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229 Cards in this Set

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  • Back
  • 3rd side (hint)
What are the three layers of the skin
Epidermis, dermis, subcutaneous tissue
What types of cells compose the epidermal layer of the skin
Stratified squamous epithelium
What are the four layers of the epidermis
Stratum Corneum
Stratum Granulosum
Stratum Spinosum
Stratum Basalis

Cocky Guys Save Babes
None
Hyperkeratosis affects which layer of the epidermis
Stratus corneum
What types of cells compose the stratum basalis
Columnar basal cells
What is a plaque
Raised area of skin >1cm in diameter
What is a papule
Raised area of skin <1cm in diameter
What is a macule
Flat, discolored area of skin <1cm in diameter
What is a vesicle
A raised, fluid-filled blister measuring <0.5cm in diameter
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)
Meissner’s corpuscles
What is the name of tactile disks that mediate light crude touch
Merkel corpuscles
What are the large encapsulated sensory receptors found in deeper layers of skin that are involved in pressure, coarse touch, vibration, and tension
Pacinian corpuscles
Where are pacinian corpuscles found
Deep layers of skin
Joint capsules
Serous membranes
Mesenteries
None
What structures prevent diffusion across intracellular spaces
Zona occludens (tight junctions)
What structures allow adjacent cells to communicate rapidly
Gap junctions
What structure connects cells to underlying extracellular matrix
Hemidesmosomes
What are structures that join adjacent cells together and provide anchoring points for intermediate filaments
Desmosomes (macula adherens)
What is the function of Langerhans cells
Antigen-presenting cells; Main inducers of antibody response
From where does the epidermis regrow after trauma or removal
Hair follicles and sweat glands in the dermis
What is the term that describes the replacement of one adult cell type by another, often secondary to irritation and/or environmental exposure
Metaplasia (reversible)
Which term describes an increased number of cells
Hyperplasia (reversible)
What do you call the change of a cell to a less differentiated form
Anaplasia
What is the term for abnormal growth with loss of orientation, shape, and size compared to normal cells
Dysplasia (reversible)
Which enzymes do malignant cells use to metastasize
Collagenases and hydrolases
Which rash is often described as a target lesion that has a red center, pale zone, and a dark outer ring
Erythema multiforme
What are common causes of erythema multiforme
Infections
Antibiotics
Radiation
Chemicals
Malignancy
None
What is the term for dilated, superficial blood vessels
Telangiectasia
Which test is designed to ascertain whether a skin lesion will blanch as a result of pressure
Diascopy. Used to determine whether a red lesion is blood-filled or hemorrhagic
What are the most common causes of nonscarring alopecia
Telogen effluvium
Androgenic alopecia
Alopecia areata
Tinea capitis
Traumatic alopecia
None
What are the most common causes of scarring alopecia
Cutaneous lupus
Lichen planus
Folliculitis planus
Linear scleroderma
None
What is the easiest and quickest way to determine if a skin condition is fungal
KOH preparation
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
Staphylococcal scalded skin syndrome
What is the infectious agent that causes scalded skin syndrome
Staphylococcus aureus
What condition is described as having thin-walled vesicles or pustules that rupture to form golden-yellow crusts (honey crusts)
Impetigo
What is the most common bacterial infection of the skin in children
Impetigo
What bacteria cause impetigo
Staph aureus or Strep pyogenes
What test is helpful to determine the organism involved in impetigo
Culture and catalase tests
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
Herpes simplex infection
What is the treatment for herpes simplex type I
Oral and topical acyclovir
Valacyclovir
Famciclovir
None
What infection causes unilateral, painful vesicles along a dermatome of the face or trunk
Shingles (Herpes Zoster)
Which test can be used to assist in the diagnosis of herpes virus infection
Tzank smear
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
Varicella or chicken pox
A 16 year old presents with multiple dome-shaped, umbilicated, waxy papules on the face and chest. What is the most likely diagnosis
Molluscum contagiosum
How does molluscum contagiosum appear microscopically
Epidermal hyperplasia producing a basin with moluscum bodies (Henderson-Patterson bodies)
What type of virus causes molluscum contagiosum
Pox virus
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
Kaposi’s sarcoma (HHV8)
A 7 year old present with multiple hard, rough-surfaced papules on his fingers and elbows. Diagnosis?
Verruca vulagris (common wart)
What is the causative agent of verruca vulgaris
HPV
What is the typical primary syphilis skin manifestation
Painless indurated genital or lip ulcer (chancre)
None
What are the typical secondary syphilis skin manifestations
Cutaneous lesions that are maculopapular or erythematosquamous, lesions on palms and soles, warts (condylomata lata) on anogenital region, and alopecia
What HPV serotypes cause the common wart
HPV-1,2,4,7
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?
Erythema chronicum migrans (Lyme disease)
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?
Tinea corporis (ringworms)
How is ringworm acquired
Tinea corporis is not due to a worm but due to a fungal infection
Skin infections are typically caused by what bacterium
S. aureus
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?
Rocky Mountain spotted fever
What type of rash is seen in spotted fever
An inward or centripetal spreading rash
What is used to test for typhus and Rocky mountain spotted fever
Weil-Felix reaction
What is the treatment for Rocky mountain spotted fever
Tetracyclines or chloramphenicol
None
A 26 year old female from Texas complains of small hypopigmented spots on her upper back that usually disappear in the winter months. Diagnosis?
Tinea versicolor
What is the confirmatory test for tinea versicolor
KOH preparation
Which diseases cause hand and foot lesions
Syphilis
Hand-foot-and-mouth disease
Rocky Mountain spotted fever
None
A 25 year old sexually active male presents with a painful, nonindurated genital ulcer, and tender regional lymphadenopathy. Diagnosis?
Chancroid
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?
Scabies
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?
Tinea pedis
What is the treatment for tinea pedis
Topical or oral antifungals
What is the rapid developing infection of the skin and fascia that may lead to death if not treated quickly
Necrotizing fasciitis
What are the organisms responsible for necrotizing fasciitis
Group A streptococci or Clostridium perfringens
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?
Rosacea
What is the treatment for Rosacea
Avoid precipitating factors
Topical metronidazole
Sulfur lotions
Oral tetracyclines
Isotretinoin
None
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?
Fifth diseas (erythema infectiosum)
What causes fifth disease
Parvovirus B19
What are the other complications of fifth disease
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
Which bacteria cause erythrasma
Corynebacterium
What bacterium causes scarlet fever
S. pyogenes (group A β-hemolytic)
What type of rash is seen in typhus
An outward or centrifugal-spreading rash
How do the rickettsiae cause severe tissue damage
Organisms infect endothelial cells and cause vascular leakage, which results in hypovolemic shock, pulmonary edema, renal failure, and CNS damage
What does disseminated disease of coccidioidomycosis manifest as on the skin
Verrucous plaques (usually on face)
Subcutaneous abscesses
Pustular lesions
None
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?
Milker’s nodules
What causes milker’s nodules
Paravaccinia virus
What group is paravaccinia in
Double-stranded parapoxvirus
What disease may follow paravaccinia infection
Bullous pemphigoid
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
Ampicillin
What is the most likely diagnosis for a patient who develops a rash after treatment with ampicillin
Mononucleosis
What is the etiologic agent for mononucleosis
EBV (HHV 4)
What are the classic criteria for diagnosing mononucleosis
Lymphocytosis, presence of at least 10% atypical lymphocytes on peripheral smear, and a positive serologic test for EBV
What organism is responsible for tinea versicolor
Malassezia furfur
What is used to treat tinea versicolor
Topical miconazole
Selenium sulfide
None
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
Anthrax
What is the causative agent of anthrax
Bacillus anthracis
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?
Leprosy
What is the causative agent of leprosy
Mycobacterium leprae
What agent causes hand-foot-and-mouth disease
Coxsackie virus type A-16
What are the signs and symptoms of hand-foot-and-mouth disease
Fever and malaise with small oval vesicles along creases of palms, soles, and lips
What is the most common type of bacterial infection in burn victims
Pseudomonas aeruginosa infections
Dermatophytes include members of which genera
Trichophyton; Microsporum; Epidermophyton
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?
Tinea capitis
None
What is the most likely etiologic organism of tinea capitis
Trichophyton tonsurans
What is the treatment for tinea capitis
Griseofulvin
Terbinafine
None
Which form of M. furfur generally causes disease
Hyphal form
What is the most common type of skin cancer
Basal cell carcinoma
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
Basal cell carcinoma
What skin cancer is microscopically characterized by nests of palisading cells
Basal cell carcinoma
Which neoplasm is often described as a red papule, nodule, or plaque that may be hyperkeratotic or ulcerated on sun-exposed skin
Squamous cell carcinoma
Arsenic causes which type of skin cancer
Squamous cell carcinoma
None
Which neoplasm is microscopically characterized by nest of atypical squamous epithelial cells and keratin
Squamous cell carcinoma
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
Squamous cell carcinoma
None
Actinic keratosis lesions may transform into what type of skin cancer if left untreated
Squamous cell carcinoma
What are some risk factors for squamous cell carcinoma
Sun exposure
Ionizing radiation
Actinic keratosis
Immunosuppression
Arsenic
Industrial carcinogens
None
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?
Melanoma
Which stains are used to test for melanoma
S-100
HMB-45
MART-1
None
What is the most sensitive stain that could be used to test for melanoma and is almost always positive
S-100
Large congenital nevi and dysplastic nevi may be precursor lesions for what type of cancer
Melanoma
Which clinical criteria are used to help diagnose melanomas
Aysmmetry
Border irregularity
Color variation
Diameter

ABCDs of melanoma
None
What is the term for a lesion that is a precursor or marker to melanoma
Dysplastic nevus
How is dysplastic nevus syndrome inherited
Autosomal dominant inheritance
What chromosome is dysplastic nevus syndrome located on
Chromosome 1
What are the peak ages for melanoma
40-70 years of age
What are risk factors for melanoma
Sunburns
Chronic sun exposure
Fair skin
Dysplastic nevi
None
What is the most common subtype of melanoma
Superficial spreading melanoma
Which type of melanoma has the best prognosis
Lentigo maligna melanoma
Which type of melanoma has the worst prognosis
Nodular melanoma
What is the most common type of melanoma in dark-skinned individuals
Acral-lentiginous melanoma
What is the most important prognostic parameter for melanoma
Depth (Breslow’s thickness)
In what condition would you find cytoplasmic Birbeck granules through electron microscopy
Histiocytosis X (Langerhans cell histiocytosis)
In histiocytosis X, proliferations of which cells is usually found in the epidermis
Langerhans cells (macrophages)
What term describes full-thickness epithelia atypia with an intact basement membrane in a cancer biopsy
Carcinoma in situ
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?
Mycosis fungoides (cutaneous T-cell lymphomas)
What is mycosis fungoides called where there is blood involvement
Sezary syndrome
Skin carcinogenesis is thought to be caused by the accumulation of mutations in which tumor suppressor gene
p53
What type of carcinoma microscopically resembles metastatic small cell carcinoma from the lung or certain lymphomas
Merkel cell carcinoma
Which HPV serotypes cause condyloma acuminatum
HPV 6 and 11
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
Seborrheic keratosis
What is the most common type of collagen in a keloid
Type III collagen
What are the risk factors for keloid formation
African-American race, <30 years of age, and increased skin tension in a wound
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
Senile angiomas (cherry angiomas)
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
Internal cancer or an endocrine disorder
What skin condition is described as dark, rough-looking or velvety skin in the axilla or on the back of the neck
Acanthosis nigricans
Which autosomal recessive disease is characterized by defective DNA repair and photosensitivity
Xeroderma pigmentosa
Patients with xeroderma pigmentosa usually develop which skin lesions
Basal cell carcinoma
Squamous cell carcinoma
Actinic keratosis
Melanoma in childhood
None
Exposure to UV light causes what type of dimmers in the skin
Thymine-thymine dimmers
What are the multiple, light-brown, freckle-like lesions found in neurofibromatosis
Café au lait spots
Café au lait spots usually grow along what structures
Peripheral nerves
Hypopigmented macules or ash-leaf spots on the trunk or lower extremities are associated with what disease
Tuberous sclerosis
What is the tuberous sclerosis triad
Mental retardation
Epilepsy
Multiple angiofibromas
None
A unilateral port-wine stain of the forehead and upper eyelid is associated with what condition
Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
Which nerve is associated with Sturge-Weber syndrome
Ophthalmic branch of the trigeminal nerve
What condition has whitish-red nodules especially on digits and over joints, and is associated with uric acid accumulation
Gout
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?
Alkaptonuria
How is alkaptonuria inherited
Autosomal recessive inheritance
None
What accounts for the discoloration of the skin and urine in alkaptonuria
Deposition of homogentisic acid
Hemochromatosis has what manifestation in the skin
Hyperpigmented bronze skin
Which connective tissue disorder is associated with hyperextensible fragile skin, loose joints, and a tendency toward easy bruising and bleeding
Ehlers-Danlos syndrome
What is the cause of death for a patient with Ehlers-Danlos disease
Arterial or intestinal rupture
What is the name of the group of autosomal recessive diseases of premature aging
Progeria
Marfan syndrome is due to a defect in which gene
Fibrillin-1 (FBN-1)
On which chromosome is the defect for Marfan syndrome
15q21
What is the most common cause of death in a Marfan patient
Ascending aortic dissection
How is albinism generally inherited
Autosomal recessive inheritance
What is lacking in the epidermis of albino patients
Melanin
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
Xanthomas
None
What is the most likely cause of xanthomas
Hyperlipidemia
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?
Neurofibromatosis 1
On what chromosome is NF type 1 found
Chromosome 17
What are other manifestations associated with NF type 1
Optic gliomas
Bone abnormalities
Freckling of the axillary or genital area
None
What is the most common neurocutaneous disorder
Neurofibromatosis
What condition is associated with multiple neuromas on the eyelid, lips, distal tongue, and/or oral mucosa
MEN, Type 2b (III)
None
Epidermolysis bullosa acquisita (EBA) is associated with which disease
Inflammatory bowel disease, especially Crohn’s disease
What haplotype is frequently found in patients with EBA
HLA-DR2
Which drugs cause erythema multiforme or “target” lesions
Aspirin
Penicillin
Sulfonamides
Phenytoin
Corticosteroids
Cimetidine
Allopurinol
Oral contraceptives
None
Which drugs cause Stevens-Johnson syndrome
Sulfa drugs
Carbamazepine
Phenytoin
Valproic acid
Phenobarbital
Quinolones
Cephalosporins
Allopurinol
Corticosteroids
Aminopenicillins
None
Which drugs induce acne
Lithium
Steroids
Androgens
Oral contraceptive pills
None
Which marker is associated with a genetic susceptibility to fixed-drug reactions
HLA-B22
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
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
Amiodarone
What type of drug is Amiodarone
Class III antiarrhythmic
What do you call a symmetrical, hyperpigmented lesion of the forehead and cheeks that occurs in women who are on oral contraceptives or pregnant
Melasma
What are some common drugs that are associated with hyperpigmentation
Bleomycin; Minocycline; Miodarone; Chloroquine; Gold; Chlorpromazine; 5-Fluorouracil; Daunorubicin; Busulfan
Which groups of patients have an increased risk of adverse drug reaction
Women
Patients with Sjogren’s syndrome
AIDS patients
None
Which drug causes red man syndrome usually during rapid IV infusion
Vancomycin
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
Sulfonamides
What is the most common cause of burns in children
Scalds from hot liquids
What is the most common cause of burns in adults
Accidents with flammable liquids
Which kind of burn affects only the epidermis
First-degree burn
Which kind of burn usually blisters and affects the dermis and adnexal structures
Second-degree burn
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
Third-degree burn
The scar that follows a deep second and third degree burn is composed of what
Hyalinized collagen
Sharply demarcated, silvery-white plaques on a patient’s elbows and knees are most likely what disorder
Psoriasis
What conditions can trigger psoriasis
Trauma; Infection; Drugs
Which major histocompatibility markers are associated with psoriasis
HLA-CW6
B13
B17
B27
None
What disorder has scaly, thickened plaques that develop in response to persistent rubbing of pruritic sites
Lichen simplex chronicus
Which disease results from the deposition of collagen in skin that causes a “hardened” and “thickened” appearance and is associated with Raynaud’s phenomenon
Scleroderma
Which antibodies are associated with scleroderma
Scl-70 (diffuse)
Anticentromere antibodies (localized)
None
What other conditions are associated with scleroderma
Hypertension
Gastrointestinal disease
Pulmonary fibrosis
Kidney disease
None
Which type of collagen is defective in osteogenesis imperfecta
Type I collagen
Which disease is associated with a rash on the face, particularly the malar areas
Systemic lupus erythematosus
Atopic dermatitis is associated with what conditions
Asthma and allergic rhinitis
Which test is often helpful in the evaluation of patients with chronic contact dermatitis
Patch test
What is the most common presentation of contact dermatitis
Hand eczema, most likely due to occupational exposure
Contact dermatitis is what type of hypersensitivity reaction
Type IV-delayed hypersensitivity
Eruptive forms of what condition may be associated with Reiter syndrome
Psoriasis
Touch normal-appearing skin with a sliding motion and having the epidermis layer separated from the basal layer is what skin test
Nikolsky’s sign
Which HLA types are increased in frequency in patients with dermatitis herpetiformis
HLA-B8, DR3, DQW2
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
Dermatomyositis
Vitiligo is most commonly associated with what conditions
Thyroid disease
Pernicious anemia
Addison’s disease
Diabetes mellitus type 1
None
What are some clinical manifestations of type I hypersensitivity reactions
Anaphylaxis
Urticaria
Exanthema
Angioedema
None
Urticaria is what type of hypersensitivity reaction
IgE-mediated, type I hypersensitivity reaction
Autoantibodies to the intercellular junction of epidermal cells are found in which disease
Pemphigus vulgaris
Pemphigus vulgaris is associated with which antibody
IgG
What do the autoantibodies in pemphigus vulgaris target
Desmocollins and desmogleins (transmembrane desmosomal glycoproteins)
Patients with pemphigus vulgaris have an increased incidence of which haplotypes
HLA-DR4, DRw6
What do the autoantibodies in bullous pemphigoid target
BP1 and BP2 in basement membrane
Bullous pemphigoid is an autoimmune disorder that rarely affects which part of the body in contrast to pemphigus vulgaris, which affects it frequently
Oral mucosa
Dermatitis herpetiformis is associated with what condition
Gluten-sensitive enteropathy
TB skin test, transplant rejection, and contact dermatitis are what type of hypersensitivity reaction
Delayed type hypersensitivity reaction, type IV
What is the most likely vitamin deficiency that manifests as petechiae, echymoses, abnormal hair growth, bleeding gums, and poor wound healing
Vitamin C (scurvy)
A 45 year old patient presents with intense hyperpigmentation, areas of epithelial desquamation, diarrhea, and confusion. What is the most likely deficient vitamin
Niacin (nicotinic acid)
Which vitamin deficiencies have cutaneous manifestations
Vitamin C
Vitamin A
Nicotinic acid
Riboflavin
Pyridoxine
None
What are some skin manifestations of kwashiorkor
Dry skin
Patches of hypopigmentation
Skin peeling
Peripheral edema
Thin hair shafts
None
What condition would cause an increase in skin glycogen and acid α-glucosidase in cultured fibroblasts
Pompe’s disease (type II)
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
Hartnup disease
How is Hartnup disease inherited
Autosomal recessive inheritance
What are the cutaneous manifestations in Whipple’s disease
Hyperpigmentation of scars and sun-exposed skin
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
Which test is used to diagnose Cushing’s disease
Dexamethasone suppression test and 24 hour urinary measurement for cortisol
What is the most common cause of Cushing’s syndrome
Iatrogenic
What hormone is increased in Cushing’s syndrome
Cortisol
Patients with carcinoid syndrome may have which skin manifestation
Episodes of flushing of the head, neck, and sometimes trunk
What are the metabolic causes of hyperpigmentation
Porphyria cutanea tarda
Hemochromatosis
Vitamin B12 deficiency
Folic acid deficiency
Pellagra
Mallabsorption
Whipple’s disease
None