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229 Cards in this Set
- Front
- Back
- 3rd side (hint)
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What are the three layers of the skin
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Epidermis, dermis, subcutaneous tissue
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What types of cells compose the epidermal layer of the skin
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Stratified squamous epithelium
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What are the four layers of the epidermis
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Stratum Corneum
Stratum Granulosum Stratum Spinosum Stratum Basalis Cocky Guys Save Babes |
None
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Hyperkeratosis affects which layer of the epidermis
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Stratus corneum
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What types of cells compose the stratum basalis
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Columnar basal cells
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What is a plaque
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Raised area of skin >1cm in diameter
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What is a papule
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Raised area of skin <1cm in diameter
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What is a macule
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Flat, discolored area of skin <1cm in diameter
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What is a vesicle
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A raised, fluid-filled blister measuring <0.5cm in diameter
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What are the small, encapsulated sensory receptors found in the dermis of the palms, soles, and digits of the skin (Hint: they are also involved in light discriminatory touch of hairless skin)
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Meissner’s corpuscles
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What is the name of tactile disks that mediate light crude touch
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Merkel corpuscles
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What are the large encapsulated sensory receptors found in deeper layers of skin that are involved in pressure, coarse touch, vibration, and tension
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Pacinian corpuscles
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Where are pacinian corpuscles found
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Deep layers of skin
Joint capsules Serous membranes Mesenteries |
None
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What structures prevent diffusion across intracellular spaces
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Zona occludens (tight junctions)
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What structures allow adjacent cells to communicate rapidly
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Gap junctions
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What structure connects cells to underlying extracellular matrix
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Hemidesmosomes
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What are structures that join adjacent cells together and provide anchoring points for intermediate filaments
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Desmosomes (macula adherens)
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What is the function of Langerhans cells
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Antigen-presenting cells; Main inducers of antibody response
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From where does the epidermis regrow after trauma or removal
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Hair follicles and sweat glands in the dermis
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What is the term that describes the replacement of one adult cell type by another, often secondary to irritation and/or environmental exposure
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Metaplasia (reversible)
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Which term describes an increased number of cells
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Hyperplasia (reversible)
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What do you call the change of a cell to a less differentiated form
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Anaplasia
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What is the term for abnormal growth with loss of orientation, shape, and size compared to normal cells
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Dysplasia (reversible)
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Which enzymes do malignant cells use to metastasize
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Collagenases and hydrolases
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Which rash is often described as a target lesion that has a red center, pale zone, and a dark outer ring
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Erythema multiforme
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What are common causes of erythema multiforme
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Infections
Antibiotics Radiation Chemicals Malignancy |
None
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What is the term for dilated, superficial blood vessels
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Telangiectasia
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Which test is designed to ascertain whether a skin lesion will blanch as a result of pressure
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Diascopy. Used to determine whether a red lesion is blood-filled or hemorrhagic
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What are the most common causes of nonscarring alopecia
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Telogen effluvium
Androgenic alopecia Alopecia areata Tinea capitis Traumatic alopecia |
None
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What are the most common causes of scarring alopecia
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Cutaneous lupus
Lichen planus Folliculitis planus Linear scleroderma |
None
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What is the easiest and quickest way to determine if a skin condition is fungal
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KOH preparation
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An 8-month old presents with large, easily ruptured flaccid bullae, with large areas of desquamation of skin and a positive Nikolsky’s sign. What is the most likely diagnosis
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Staphylococcal scalded skin syndrome
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What is the infectious agent that causes scalded skin syndrome
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Staphylococcus aureus
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What condition is described as having thin-walled vesicles or pustules that rupture to form golden-yellow crusts (honey crusts)
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Impetigo
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What is the most common bacterial infection of the skin in children
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Impetigo
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What bacteria cause impetigo
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Staph aureus or Strep pyogenes
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What test is helpful to determine the organism involved in impetigo
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Culture and catalase tests
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A sexually active 23 year old patient presents with painful vesicles on his penis and a slight fever. He refers to having the same type of vesicles multiple times a year. Multinucleated giant cells and ballooning of nuclei are seen microscopically. What is the likely diagnosis
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Herpes simplex infection
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What is the treatment for herpes simplex type I
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Oral and topical acyclovir
Valacyclovir Famciclovir |
None
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What infection causes unilateral, painful vesicles along a dermatome of the face or trunk
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Shingles (Herpes Zoster)
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Which test can be used to assist in the diagnosis of herpes virus infection
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Tzank smear
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Which disease of childhood presents with acute vesicular eruptions that occur in successive crops, so that the rash typically consists of vesicles at different stages of resolution
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Varicella or chicken pox
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A 16 year old presents with multiple dome-shaped, umbilicated, waxy papules on the face and chest. What is the most likely diagnosis
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Molluscum contagiosum
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How does molluscum contagiosum appear microscopically
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Epidermal hyperplasia producing a basin with moluscum bodies (Henderson-Patterson bodies)
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What type of virus causes molluscum contagiosum
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Pox virus
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A 35 year old patient with AIDS presents with multiple brownish/purplish macules on the trunk and lower extremities. What is the most likely diagnosis
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Kaposi’s sarcoma (HHV8)
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A 7 year old present with multiple hard, rough-surfaced papules on his fingers and elbows. Diagnosis?
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Verruca vulagris (common wart)
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What is the causative agent of verruca vulgaris
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HPV
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What is the typical primary syphilis skin manifestation
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Painless indurated genital or lip ulcer (chancre)
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None
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What are the typical secondary syphilis skin manifestations
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Cutaneous lesions that are maculopapular or erythematosquamous, lesions on palms and soles, warts (condylomata lata) on anogenital region, and alopecia
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What HPV serotypes cause the common wart
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HPV-1,2,4,7
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A 24 year old man from the Northeast, visits the physician because of a centrifugally spreading, erythematous lesion on his right leg. The patient noticed the rash after he went hiking. Diagnosis?
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Erythema chronicum migrans (Lyme disease)
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A mother brings her 5 year old son to the physician because she noted her son scratching a pinkish lesion on his neck. Upon examination, the physician notes a ring-shaped scaling plaque with central clearing and elevated borders. Diagnosis?
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Tinea corporis (ringworms)
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How is ringworm acquired
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Tinea corporis is not due to a worm but due to a fungal infection
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Skin infections are typically caused by what bacterium
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S. aureus
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A 22 year old man presents with a rash that first appeared on his palms and soles, and then spread to his face and trunk. Diagnosis?
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Rocky Mountain spotted fever
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What type of rash is seen in spotted fever
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An inward or centripetal spreading rash
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What is used to test for typhus and Rocky mountain spotted fever
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Weil-Felix reaction
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What is the treatment for Rocky mountain spotted fever
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Tetracyclines or chloramphenicol
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None
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A 26 year old female from Texas complains of small hypopigmented spots on her upper back that usually disappear in the winter months. Diagnosis?
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Tinea versicolor
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What is the confirmatory test for tinea versicolor
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KOH preparation
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Which diseases cause hand and foot lesions
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Syphilis
Hand-foot-and-mouth disease Rocky Mountain spotted fever |
None
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A 25 year old sexually active male presents with a painful, nonindurated genital ulcer, and tender regional lymphadenopathy. Diagnosis?
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Chancroid
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A 35 year old homeless woman visits a shelter physician because of multiple, extremely pruritic papules in her axilla, groin, and finger webs. The patient indicates her husband also has the same lesions. Diagnosis?
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Scabies
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A 15 year old male on the school swim team visits the dermatologist because of itchiness on both his feet. He states he is not on any medication and has not had it before. Upon inspection, the physician notes erythematous, dry scaling lesions on both feet. Diagnosis?
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Tinea pedis
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What is the treatment for tinea pedis
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Topical or oral antifungals
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What is the rapid developing infection of the skin and fascia that may lead to death if not treated quickly
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Necrotizing fasciitis
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What are the organisms responsible for necrotizing fasciitis
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Group A streptococci or Clostridium perfringens
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A 67 year old Caucasian woman visits her dermatologist because of small reddish papules/pustules predominantly on her cheeks, nose, chin, and forehead. She states that her face becomes worse if she uses hot water or is in warm weather. Diagnosis?
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Rosacea
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What is the treatment for Rosacea
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Avoid precipitating factors
Topical metronidazole Sulfur lotions Oral tetracyclines Isotretinoin |
None
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A 12 year old male visits his physician because of a slap-like red mark on his cheek and a rash on his arms that appeared 1 day after the cheek rash. Upon physical examination, the physician notes malar erythema and a maculopapular rash on his extremities. Diagnosis?
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Fifth diseas (erythema infectiosum)
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What causes fifth disease
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Parvovirus B19
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What are the other complications of fifth disease
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Nonimmune fetal hydrops (virus infects and destroys fetal red blood cells)
More severe anemia in patients with other type of chronic anemia (like aplastic crisis in sickle cell patient) |
None
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Which bacteria cause erythrasma
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Corynebacterium
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What bacterium causes scarlet fever
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S. pyogenes (group A β-hemolytic)
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What type of rash is seen in typhus
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An outward or centrifugal-spreading rash
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How do the rickettsiae cause severe tissue damage
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Organisms infect endothelial cells and cause vascular leakage, which results in hypovolemic shock, pulmonary edema, renal failure, and CNS damage
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What does disseminated disease of coccidioidomycosis manifest as on the skin
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Verrucous plaques (usually on face)
Subcutaneous abscesses Pustular lesions |
None
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A 23 year old farmhand presents to the dermatologist with multiple red-violaceous nodules on the hand, fever, and history of diarrhea. During the examination, the patient states he is in charge of the cows on the farm. Diagnosis?
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Milker’s nodules
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What causes milker’s nodules
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Paravaccinia virus
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What group is paravaccinia in
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Double-stranded parapoxvirus
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What disease may follow paravaccinia infection
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Bullous pemphigoid
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A 16 year old female complains of fatigue, fever, sore throat, and lymphadenopathy. She leaves with a prescription for medication. Two days later she returns with a cutaneous rash on her face. What did the physician prescribe the patient
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Ampicillin
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What is the most likely diagnosis for a patient who develops a rash after treatment with ampicillin
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Mononucleosis
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What is the etiologic agent for mononucleosis
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EBV (HHV 4)
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What are the classic criteria for diagnosing mononucleosis
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Lymphocytosis, presence of at least 10% atypical lymphocytes on peripheral smear, and a positive serologic test for EBV
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What organism is responsible for tinea versicolor
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Malassezia furfur
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What is used to treat tinea versicolor
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Topical miconazole
Selenium sulfide |
None
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A 45 year old rancher visits a dermatologist because of a black 2-cm lesion on his hand. He states that the lesion was itchy and had a reddish color a day or two ago. What is the most likely diagnosis
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Anthrax
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What is the causative agent of anthrax
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Bacillus anthracis
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A 36 year old migrant worker from Mexico visits the physician because of small disfiguring nodules forming on his ears and hands. The patient also states that he is losing sensation in the affected areas. Diagnosis?
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Leprosy
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What is the causative agent of leprosy
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Mycobacterium leprae
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What agent causes hand-foot-and-mouth disease
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Coxsackie virus type A-16
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What are the signs and symptoms of hand-foot-and-mouth disease
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Fever and malaise with small oval vesicles along creases of palms, soles, and lips
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What is the most common type of bacterial infection in burn victims
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Pseudomonas aeruginosa infections
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Dermatophytes include members of which genera
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Trichophyton; Microsporum; Epidermophyton
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An inner-city child is brought to the physician because of patches of hair loss. His mother states that he has had this problem for at least a month. The lesions are painless and have some scaling. Diagnosis?
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Tinea capitis
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None
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What is the most likely etiologic organism of tinea capitis
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Trichophyton tonsurans
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What is the treatment for tinea capitis
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Griseofulvin
Terbinafine |
None
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Which form of M. furfur generally causes disease
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Hyphal form
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What is the most common type of skin cancer
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Basal cell carcinoma
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What is the neoplasm that is often described as a pearly, red macule, papule, or nodule that is found on sun-exposed areas of the head or neck
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Basal cell carcinoma
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What skin cancer is microscopically characterized by nests of palisading cells
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Basal cell carcinoma
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Which neoplasm is often described as a red papule, nodule, or plaque that may be hyperkeratotic or ulcerated on sun-exposed skin
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Squamous cell carcinoma
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Arsenic causes which type of skin cancer
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Squamous cell carcinoma
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None
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Which neoplasm is microscopically characterized by nest of atypical squamous epithelial cells and keratin
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Squamous cell carcinoma
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Which type of skin cancer results as a complication of severe burns 20-40 years later and has a higher risk of metastasis compared to its regular skin version
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Squamous cell carcinoma
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None
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Actinic keratosis lesions may transform into what type of skin cancer if left untreated
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Squamous cell carcinoma
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What are some risk factors for squamous cell carcinoma
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Sun exposure
Ionizing radiation Actinic keratosis Immunosuppression Arsenic Industrial carcinogens |
None
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A 54 year old male visits the dermatologist because of a dark brown-black 5mm freckle in between his third and fourth toe. The patient stated that he noticed the freckle about a year and a half ago. The dermatologist biopsies the lesion and under the microscope, sees atypical confluent melanocytes with asymmetrical proliferation. Diagnosis?
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Melanoma
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Which stains are used to test for melanoma
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S-100
HMB-45 MART-1 |
None
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What is the most sensitive stain that could be used to test for melanoma and is almost always positive
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S-100
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Large congenital nevi and dysplastic nevi may be precursor lesions for what type of cancer
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Melanoma
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Which clinical criteria are used to help diagnose melanomas
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Aysmmetry
Border irregularity Color variation Diameter ABCDs of melanoma |
None
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What is the term for a lesion that is a precursor or marker to melanoma
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Dysplastic nevus
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How is dysplastic nevus syndrome inherited
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Autosomal dominant inheritance
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What chromosome is dysplastic nevus syndrome located on
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Chromosome 1
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What are the peak ages for melanoma
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40-70 years of age
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What are risk factors for melanoma
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Sunburns
Chronic sun exposure Fair skin Dysplastic nevi |
None
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What is the most common subtype of melanoma
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Superficial spreading melanoma
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Which type of melanoma has the best prognosis
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Lentigo maligna melanoma
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Which type of melanoma has the worst prognosis
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Nodular melanoma
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What is the most common type of melanoma in dark-skinned individuals
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Acral-lentiginous melanoma
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What is the most important prognostic parameter for melanoma
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Depth (Breslow’s thickness)
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In what condition would you find cytoplasmic Birbeck granules through electron microscopy
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Histiocytosis X (Langerhans cell histiocytosis)
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In histiocytosis X, proliferations of which cells is usually found in the epidermis
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Langerhans cells (macrophages)
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What term describes full-thickness epithelia atypia with an intact basement membrane in a cancer biopsy
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Carcinoma in situ
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A 40 year old male has rash of scaly red patches on his trunk, face, and extremities. A biopsy is taken and superficial dermal infiltrates of T-lymphocytes and a collection of atypical lymphocytes are seen within the epidermis. Diagnosis?
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Mycosis fungoides (cutaneous T-cell lymphomas)
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What is mycosis fungoides called where there is blood involvement
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Sezary syndrome
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Skin carcinogenesis is thought to be caused by the accumulation of mutations in which tumor suppressor gene
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p53
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What type of carcinoma microscopically resembles metastatic small cell carcinoma from the lung or certain lymphomas
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Merkel cell carcinoma
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Which HPV serotypes cause condyloma acuminatum
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HPV 6 and 11
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What are tan/brown plaques or papules that have a stuck on appearance and may be found anywhere on the body of adults, except the palms and soles
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Seborrheic keratosis
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What is the most common type of collagen in a keloid
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Type III collagen
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What are the risk factors for keloid formation
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African-American race, <30 years of age, and increased skin tension in a wound
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Single or multiple bright red papules measuring a few millimeters in diameter that occur predominantly on the trunks and limbs of patients over 40 years are what type of lesions
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Senile angiomas (cherry angiomas)
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A 59 year old male visits his family physician because of loss of appetite, weight loss, and fatigue. During the physical examination, the physician notes dark, rough-looking skin in the axilla region. What should the physician suspect
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Internal cancer or an endocrine disorder
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What skin condition is described as dark, rough-looking or velvety skin in the axilla or on the back of the neck
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Acanthosis nigricans
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Which autosomal recessive disease is characterized by defective DNA repair and photosensitivity
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Xeroderma pigmentosa
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Patients with xeroderma pigmentosa usually develop which skin lesions
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Basal cell carcinoma
Squamous cell carcinoma Actinic keratosis Melanoma in childhood |
None
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Exposure to UV light causes what type of dimmers in the skin
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Thymine-thymine dimmers
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What are the multiple, light-brown, freckle-like lesions found in neurofibromatosis
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Café au lait spots
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Café au lait spots usually grow along what structures
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Peripheral nerves
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Hypopigmented macules or ash-leaf spots on the trunk or lower extremities are associated with what disease
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Tuberous sclerosis
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What is the tuberous sclerosis triad
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Mental retardation
Epilepsy Multiple angiofibromas |
None
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A unilateral port-wine stain of the forehead and upper eyelid is associated with what condition
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Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
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Which nerve is associated with Sturge-Weber syndrome
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Ophthalmic branch of the trigeminal nerve
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What condition has whitish-red nodules especially on digits and over joints, and is associated with uric acid accumulation
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Gout
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A 39 year old man comes to the physician because he has noted a bluish-black color on his ears, nose, and sclera. The patient also states that his urine is sometimes very dark. Diagnosis?
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Alkaptonuria
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How is alkaptonuria inherited
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Autosomal recessive inheritance
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None
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What accounts for the discoloration of the skin and urine in alkaptonuria
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Deposition of homogentisic acid
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Hemochromatosis has what manifestation in the skin
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Hyperpigmented bronze skin
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Which connective tissue disorder is associated with hyperextensible fragile skin, loose joints, and a tendency toward easy bruising and bleeding
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Ehlers-Danlos syndrome
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What is the cause of death for a patient with Ehlers-Danlos disease
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Arterial or intestinal rupture
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What is the name of the group of autosomal recessive diseases of premature aging
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Progeria
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Marfan syndrome is due to a defect in which gene
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Fibrillin-1 (FBN-1)
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On which chromosome is the defect for Marfan syndrome
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15q21
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What is the most common cause of death in a Marfan patient
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Ascending aortic dissection
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How is albinism generally inherited
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Autosomal recessive inheritance
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What is lacking in the epidermis of albino patients
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Melanin
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A 35 year old woman visits her physician because she recently noticed multiple small nodules on the back of her ankle. The patient’s vital signs are normal and she has no prior clinical illnesses. A blood test is taken that reveals Na 142, glucose 100, creatinine 1, BUN 17, cholesterol 310, triglycerides 412. What do the small nodules likely represent
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Xanthomas
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None
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What is the most likely cause of xanthomas
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Hyperlipidemia
|
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A mother brings her 7 year old son to the physician because of two small masses on his right chest. The mother states that the child is adopted and does not know the child’s family history. A 4 and 3 cm mass is palpated on his right pectoral, small tan lesions are seen on his back and right arm, and a small growth is seen on his iris. Diagnosis?
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Neurofibromatosis 1
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On what chromosome is NF type 1 found
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Chromosome 17
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What are other manifestations associated with NF type 1
|
Optic gliomas
Bone abnormalities Freckling of the axillary or genital area |
None
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What is the most common neurocutaneous disorder
|
Neurofibromatosis
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What condition is associated with multiple neuromas on the eyelid, lips, distal tongue, and/or oral mucosa
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MEN, Type 2b (III)
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None
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Epidermolysis bullosa acquisita (EBA) is associated with which disease
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Inflammatory bowel disease, especially Crohn’s disease
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What haplotype is frequently found in patients with EBA
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HLA-DR2
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Which drugs cause erythema multiforme or “target” lesions
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Aspirin
Penicillin Sulfonamides Phenytoin Corticosteroids Cimetidine Allopurinol Oral contraceptives |
None
|
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Which drugs cause Stevens-Johnson syndrome
|
Sulfa drugs
Carbamazepine Phenytoin Valproic acid Phenobarbital Quinolones Cephalosporins Allopurinol Corticosteroids Aminopenicillins |
None
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Which drugs induce acne
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Lithium
Steroids Androgens Oral contraceptive pills |
None
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Which marker is associated with a genetic susceptibility to fixed-drug reactions
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HLA-B22
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A 16 year old male with a clinical history of acne visits his family physician because he has a red rash on his face and various exposed parts. During the exam, he states the rash occurred after he spent a couple of hours outside playing football. What medication is he most likely taking
|
Tetracyclines
|
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A 75 year old female heart patient visits her dermatologist because her skin has begun to turn a light blue color. She is embarrassed to go in public because children say she looks like a “smurf.” What medication did her cardiologist most likely give her
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Amiodarone
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What type of drug is Amiodarone
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Class III antiarrhythmic
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What do you call a symmetrical, hyperpigmented lesion of the forehead and cheeks that occurs in women who are on oral contraceptives or pregnant
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Melasma
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What are some common drugs that are associated with hyperpigmentation
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Bleomycin; Minocycline; Miodarone; Chloroquine; Gold; Chlorpromazine; 5-Fluorouracil; Daunorubicin; Busulfan
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Which groups of patients have an increased risk of adverse drug reaction
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Women
Patients with Sjogren’s syndrome AIDS patients |
None
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Which drug causes red man syndrome usually during rapid IV infusion
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Vancomycin
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A 24 year old female presents to the dermatologist because of target-like lesions on her right arm. The patient states she is taking some type of antibiotic for a urinary tract infection. What drug class most likely caused the lesions
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Sulfonamides
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What is the most common cause of burns in children
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Scalds from hot liquids
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What is the most common cause of burns in adults
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Accidents with flammable liquids
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Which kind of burn affects only the epidermis
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First-degree burn
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Which kind of burn usually blisters and affects the dermis and adnexal structures
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Second-degree burn
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Which type of burn involves the entire thickness of the skin, including variable amount of underlying fat and causes loss of sensation in affected area
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Third-degree burn
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The scar that follows a deep second and third degree burn is composed of what
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Hyalinized collagen
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Sharply demarcated, silvery-white plaques on a patient’s elbows and knees are most likely what disorder
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Psoriasis
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What conditions can trigger psoriasis
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Trauma; Infection; Drugs
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Which major histocompatibility markers are associated with psoriasis
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HLA-CW6
B13 B17 B27 |
None
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What disorder has scaly, thickened plaques that develop in response to persistent rubbing of pruritic sites
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Lichen simplex chronicus
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Which disease results from the deposition of collagen in skin that causes a “hardened” and “thickened” appearance and is associated with Raynaud’s phenomenon
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Scleroderma
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Which antibodies are associated with scleroderma
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Scl-70 (diffuse)
Anticentromere antibodies (localized) |
None
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What other conditions are associated with scleroderma
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Hypertension
Gastrointestinal disease Pulmonary fibrosis Kidney disease |
None
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Which type of collagen is defective in osteogenesis imperfecta
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Type I collagen
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Which disease is associated with a rash on the face, particularly the malar areas
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Systemic lupus erythematosus
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Atopic dermatitis is associated with what conditions
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Asthma and allergic rhinitis
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Which test is often helpful in the evaluation of patients with chronic contact dermatitis
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Patch test
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What is the most common presentation of contact dermatitis
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Hand eczema, most likely due to occupational exposure
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Contact dermatitis is what type of hypersensitivity reaction
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Type IV-delayed hypersensitivity
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Eruptive forms of what condition may be associated with Reiter syndrome
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Psoriasis
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Touch normal-appearing skin with a sliding motion and having the epidermis layer separated from the basal layer is what skin test
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Nikolsky’s sign
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Which HLA types are increased in frequency in patients with dermatitis herpetiformis
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HLA-B8, DR3, DQW2
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Which rheumatologic disease is associated with a diffuse red rash of trunk, periungual telangiectasis, proximal weakness, myositis on muscle biopsy, and elevated CPK and aldolase
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Dermatomyositis
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Vitiligo is most commonly associated with what conditions
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Thyroid disease
Pernicious anemia Addison’s disease Diabetes mellitus type 1 |
None
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What are some clinical manifestations of type I hypersensitivity reactions
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Anaphylaxis
Urticaria Exanthema Angioedema |
None
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Urticaria is what type of hypersensitivity reaction
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IgE-mediated, type I hypersensitivity reaction
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Autoantibodies to the intercellular junction of epidermal cells are found in which disease
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Pemphigus vulgaris
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Pemphigus vulgaris is associated with which antibody
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IgG
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What do the autoantibodies in pemphigus vulgaris target
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Desmocollins and desmogleins (transmembrane desmosomal glycoproteins)
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Patients with pemphigus vulgaris have an increased incidence of which haplotypes
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HLA-DR4, DRw6
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What do the autoantibodies in bullous pemphigoid target
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BP1 and BP2 in basement membrane
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Bullous pemphigoid is an autoimmune disorder that rarely affects which part of the body in contrast to pemphigus vulgaris, which affects it frequently
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Oral mucosa
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Dermatitis herpetiformis is associated with what condition
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Gluten-sensitive enteropathy
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TB skin test, transplant rejection, and contact dermatitis are what type of hypersensitivity reaction
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Delayed type hypersensitivity reaction, type IV
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What is the most likely vitamin deficiency that manifests as petechiae, echymoses, abnormal hair growth, bleeding gums, and poor wound healing
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Vitamin C (scurvy)
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A 45 year old patient presents with intense hyperpigmentation, areas of epithelial desquamation, diarrhea, and confusion. What is the most likely deficient vitamin
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Niacin (nicotinic acid)
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Which vitamin deficiencies have cutaneous manifestations
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Vitamin C
Vitamin A Nicotinic acid Riboflavin Pyridoxine |
None
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What are some skin manifestations of kwashiorkor
|
Dry skin
Patches of hypopigmentation Skin peeling Peripheral edema Thin hair shafts |
None
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What condition would cause an increase in skin glycogen and acid α-glucosidase in cultured fibroblasts
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Pompe’s disease (type II)
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A 3 year old male presents to the physician with a photosensitive rash, cerebellar ataxia, mental disturbances, and aminoaciduria. Niacin levels are within normal range. What is the most likely diagnosis
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Hartnup disease
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How is Hartnup disease inherited
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Autosomal recessive inheritance
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What are the cutaneous manifestations in Whipple’s disease
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Hyperpigmentation of scars and sun-exposed skin
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A 32 year old woman visits her family physician because of rapid weight gain, profuse sweating, sudden abnormal hair growth, and easy bruising. Upon physical examination, the physician notes purplish striae on the abdomen, telangiectasia, thin skin, and an increase of fatty tissue on her back at the level of C6. What is the most likely diagnosis
|
Cushing’s syndrome
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Which test is used to diagnose Cushing’s disease
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Dexamethasone suppression test and 24 hour urinary measurement for cortisol
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What is the most common cause of Cushing’s syndrome
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Iatrogenic
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What hormone is increased in Cushing’s syndrome
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Cortisol
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Patients with carcinoid syndrome may have which skin manifestation
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Episodes of flushing of the head, neck, and sometimes trunk
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What are the metabolic causes of hyperpigmentation
|
Porphyria cutanea tarda
Hemochromatosis Vitamin B12 deficiency Folic acid deficiency Pellagra Mallabsorption Whipple’s disease |
None
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