In-Service Exam 2010

Front 1

What enzyme deficiency is associated with a Clear Cell Acanthoma?

Back 1

Phosphorylase deficiency results in glycogen deposits inside keratinocytes.

Front 2

What are the 3 histological findings seen with Granular Parakeratosis?

Back 2

1) Thickened stratum corneum
2) Severe compact parakeratosis with retention of keratohyaline granules
3) Vascular proliferation & Ectasia

Front 3

What is the cause of Axillary Granular Parakeratosis?

Back 3

An irritant response to rubbing, antiperspirants or deodorants

Front 4

Acquired Pseudoxanthoma Elasticum (PXE) is associated with what drug in newborns?

Back 4

Penicillamine

Front 5

What eye findings are associated with PXE?

Back 5

Angioid streaks of the retina

Front 6

What 2 blood disorders are associated with acquired PXE?

Back 6

1) Sickle cell anemia
2) Beta-Thalassemia

Front 7

What 2 skin findings are seen in PXE?

Back 7

1) Yellow-ish Chicken-flesh-like skin
2) Later the skin becomes lax and wrinkled

Front 8

What is the characteristic histological finding in PXE?

Back 8

Short blue fragmented and calcified dermal elastic fibers

Front 9

What are the 2 most important systemic manifestations of PXE?

Back 9

1) Intracerebral and
2) Intestinal hemorrhage

Front 10

What is the gene defect associated with Trichorrhexis Invaginata or "Bamboo Hair"?

Back 10

SPINK5 gene
-chromosome 5q32

Front 11

What is the cause of "Bamboo Hair" seen with Trichorrhexis Invaginata?

Back 11

Intussusception of the hair shaft at the zone where keratinization begins

Front 12

What other syndrome is associated with "Bamboo Hair"?

Back 12

Netherton Syndrome

Front 13

Chediak-Higashi Syndrome is an AR disorder that results in what 3 cell defects?

Back 13

1) Giant Organelles (including melanosomes)
2) Leukocyte granules
3) Platelet-dense granules

Front 14

What 4 main clinical features are seen in an infant born with Chediak-Higashi Syndrome?

Back 14

1) Silvery hair with a metallic sheen
2) Decreased ocular pigment with photophobia
3) Recurrent pyogenic infections
4) Increased bleeding time

Front 15

What 4 immunologic defects are seen with Chediak-Higashi Syndrome?

Back 15

1) Neutropenia
2) Impaired antibody-dependant cell-mediated cytotoxicity
3) Reduced T-cell activity
4) Decreased natural killer cell function

Front 16

What will a peripheral blood smear show in a patient with Chediak-Higashi Syndrome?

Back 16

Abnormally large granules in the perinuclear area of granulocytes

Front 17

Name the 3 clinical features seen in McCune-Albright Syndrome

Back 17

1) Precocious Puberty
2) Bony defects (Polyostotic fibrous dysplasia)
3) Unilateral Cafe-au-lait spots

Front 18

Describe the clinical features of cafe-au-lait spots seen in McCune-Albright Syndrome

Back 18

Large unilateral pigmented patches with an irregular "Coast of Maine" border
-often over bony locations
-follow Blaschko's lines

Front 19

What are the 2 histological features seen in McCune-Albright Syndrome?

Back 19

1) Increased basal layer melanin
2) Giant melanosomes (macro-melanosomes)

Front 20

What type of mutation on which chromosome is seen in McCune-Albright Syndrome?

Back 20

Activating mutations on chromosome 20q13

Front 21

Upregulation of which protein is seen in McCune-Albright syndrome?

Back 21

Upregulation of the alpha-subunit of the G protein, which controls cyclic AMP activity (causing stimulation of cAMP)

Front 22

What mood stabilizing drug should be avoided in Darier's disease?

Back 22

Lithium

Front 23

Darier's disease is an AD disorder caused by a mutation of what gene?

Back 23

ATP2A2 gene

Front 24

Darier's disease is an AD disorder caused by a mutation on which chromosome?

Back 24

Chromosome 12q23-24

Front 25

Darier's disease causes keratotic plaques in what distribution?

Back 25

Seborrheic distribution

Front 26

Hailey-Hailey causes keratotic plaques in what distribution?

Back 26

Intertrigenous
-Axilla and groin

Front 27

Grover's disease causes keratotic plaques in what distribution?

Back 27

upper chest and back

Front 28

Darier's disease has what specific nail finding?

Back 28

V-shaped notches

Front 29

What 3 histological features are seen in Darier's disease?

Back 29

1) Acantholysis
2) Dyskeratosis
3) Corps Ronds & Grains

Front 30

What gene defect causes Hailey-Hailey disease?

Back 30

ATP2C1

Front 31

Acrodermatitis Enteropathica is caused by an AR defect in which gene?

Back 31

Intestinal Zinc transport gene, SLC39A4

Front 32

Acrodermatitis Enteropathica lead to deficiency of what mineral?

Back 32

Zinc

Front 33

Cafe-au-Lait spots are seen in what 2 disorders?

Back 33

1) McCune-Albright Syndrome
2) NF1

Front 34

What 5 clinical features are seen in Neurofibromatosis 1 (NF1)?

Back 34

1) Cafe-au-lait spots (>6)
2) Neurofibromas (>2)
3) "Freckling" in the axilla or groin
4) Lisch Nodules of the Iris
5) Bony defects

Front 35

What is the most common bony defect seen with NF1?

Back 35

Sphenoid Wing Dysplasia

Front 36

What 2 medications are associated with Acanthosis Nigricans?

Back 36

1) Insulin
2) Statins (HMG Co-A Reductase Inhibitors)

Front 37

What is the histological feature of Xanthomas?

Back 37

Lipid-laden foamy histiocytes

Front 38

What are 2 common sites for Verruciform Xanthomas to occur?

Back 38

1) Around the Mouth
2) Scrotum

Front 39

Xanthomas are also seen in what congenital syndrome?

Back 39

CHILD Syndrome

Front 40

What does CHILD syndrome stand for?

Back 40

Congenital Hemidysplasia
Ichthyosiform Erythroderma
Limb Defect

Front 41

What is the skin lesion you see with Multicentric Reticulohistiocytosis?

Back 41

Red-brown papules with a cobblestone appearance on face and hands

Front 42

What is the term for lesions around the nails seen with Multicentric Reticulohistiocytosis?

Back 42

"Coral Beading"
multiple tiny lumps around the nails

Front 43

What bony disorder is seen with Multicentric Reticulohistiocytosis?

Back 43

Arthritis Mutilans in 50%

Front 44

What are the 2 histological features of Multicentric Reticulohistiocytosis?

Back 44

1) Abundance of non-foamy histocytes with ground-glass cytoplasm
2) Multinucleated, bizarre looking histiocytes

Front 45

Multicentric Reticulohistiocytosis is associated with underlying malignancy. T or F?

Back 45

True
20-30% of cases

Front 46

What are 2 other names for Basal cell nevus syndrome?

Back 46

1) Gorlin Syndrome
2) Bazex Syndrome

Front 47

What is the gene defect in Basal Cell Nevus Syndrome?

Back 47

PTCH gene

Front 48

What 2 systemic manifestations are seen with Gorlin Syndrome?

Back 48

1) Odontogenic cysts in the jaw
2) Palmoplantar pits

Front 49

What typical hair finding is seen with Trichothiodystrophy?

Back 49

Tiger Tail Hair
-under polarizing light

Front 50

What AR disorder seen in infants leads to hair loss caused by sulfur-deficiency?

Back 50

Trichothiodystrophy

Front 51

What malignancy is associated with DH?

Back 51

Enteropathy-associated T-cell Lymphoma

Front 52

What malignancy is associated with chronic infection with H. pylori?

Back 52

Mucosa-associated lymphoid tissue (MALT)
-B-cell lymphoma in the gut

Front 53

What 2 histological findings are seen in Calciphylaxis?

Back 53

1) Calification and
2) Fibroplasia of small vessels in the dermis and SQ

Front 54

What is the triad of Calciphylaxis?

Back 54

1) Vascular calcification
2) Thrombosis
3) Skin Necrosis

Front 55

What systemic disease is associated with Calciphylaxis?

Back 55

End-Stage Renal Failure

Front 56

What is the name for multiple angiokeratomas on the genitals?

Back 56

Fordyce Spots

Front 57

What is the name for multiple angiokeratomas on acral skin?

Back 57

Mibelli angiokeratomas

Front 58

What X-linked recessive disease is associated with diffuse widespread angiokeratomas?

Back 58

Fabry's Disease

Front 59

What is another name for Fabry's disease?

Back 59

Angiokeratoma Corporis Diffusum

Front 60

Fabry's is due to deficiency of what enzyme?

Back 60

alpha-galactosidase A

Front 61

What is another name for Morbihan's Disease?

Back 61

Lymphedematous Rosacea

Front 62

What clinical feature do you see in Morbihan's disease?

Back 62

Pitting edema of the central face, over time becoming irreversible hard non-pitting edema

Front 63

Name the 2 forms of Paget's Disease seen in the skin.

Back 63

1) Paget's disease of the breast
2) Extramammary Paget's disease

Front 64

What type of carcinoma does Paget's disease of the breast represent?

Back 64

Intraepidermal extension of underlying intraductal breast carcinoma

Front 65

What type of carcinoma does extramammary Paget's represent?

Back 65

May be an extension of an underlying adenocarcinoma but commonly arises de novo

Front 66

Which 4 stains are positive in Paget's Disease?

Back 66

1) CEA
2) EMA
3) PAS
4) CAM 5.2 (low-molecular weight cytokeratins)

Front 67

What stains can help differentiate Paget's from Melanoma and Bowen's disease?

Back 67

Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+
Paget's: S100-

Front 68

Superficial Pemphigus is also known as?

Back 68

Pemphigus Foliaceous

Front 69

What are the 3 histological features of PF?

Back 69

1) Subcorneal blister
2) Eosinophils
3) DIF+ for intracellular IgG, C3

Front 70

Seborrheic Dermatitis is associated with activation of which complement pathway?

Back 70

Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement

Front 71

What is another name for Morbihan's Disease?

Back 71

Lymphedematous Rosacea

Front 72

What clinical feature do you see in Morbihan's disease?

Back 72

Pitting edema of the central face, over time becoming irreversible hard non-pitting edema

Front 73

Name the 2 forms of Paget's Disease seen in the skin.

Back 73

1) Paget's disease of the breast
2) Extramammary Paget's disease

Front 74

What type of carcinoma does Paget's disease of the breast represent?

Back 74

Intraepidermal extension of underlying intraductal breast carcinoma

Front 75

What type of carcinoma does extramammary Paget's represent?

Back 75

May be an extension of an underlying adenocarcinoma but commonly arises de novo

Front 76

Which 4 stains are positive in Paget's Disease?

Back 76

1) CEA
2) EMA
3) PAS
4) CAM 5.2 (low-molecular weight cytokeratins)

Front 77

What stains can help differentiate Paget's from Melanoma and Bowen's disease?

Back 77

Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+
Paget's: S100-

Front 78

Superficial Pemphigus is also known as?

Back 78

Pemphigus Foliaceous

Front 79

What are the 3 histological features of PF?

Back 79

1) Subcorneal blister
2) Eosinophils
3) DIF+ for intracellular IgG, C3

Front 80

Seborrheic Dermatitis is associated with activation of which complement pathway?

Back 80

Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement

Front 81

What is another name for Morbihan's Disease?

Back 81

Lymphedematous Rosacea

Front 82

What clinical feature do you see in Morbihan's disease?

Back 82

Pitting edema of the central face, over time becoming irreversible hard non-pitting edema

Front 83

Name the 2 forms of Paget's Disease seen in the skin.

Back 83

1) Paget's disease of the breast
2) Extramammary Paget's disease

Front 84

What type of carcinoma does Paget's disease of the breast represent?

Back 84

Intraepidermal extension of underlying intraductal breast carcinoma

Front 85

What type of carcinoma does extramammary Paget's represent?

Back 85

May be an extension of an underlying adenocarcinoma but commonly arises de novo

Front 86

Which 4 stains are positive in Paget's Disease?

Back 86

1) CEA
2) EMA
3) CK7
4) CK20

Front 87

What stains can help differentiate Paget's from Melanoma and Bowen's disease?

Back 87

Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+
Paget's: S100-

Front 88

Superficial Pemphigus is also known as?

Back 88

Pemphigus Foliaceous

Front 89

What are the 3 histological features of PF?

Back 89

1) Subcorneal blister
2) Eosinophils
3) DIF+ for intracellular IgG, C3

Front 90

Seborrheic Dermatitis is associated with activation of which complement pathway?

Back 90

Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement

Front 91

Pellagra is cause by deficiency of what?

Back 91

Niacin

Front 92

What are the 3 D's of Pellagra?

Back 92

1) Diarrhea
2) Dementia
3) Dermatitis (periorficial & around the neck)

Front 93

What skin disorder is associated with a glucagon-secreting tumor of the pancreas?

Back 93

Necrolytic Migratory Erythema

Front 94

What is the earliest skin lesion of Scurvy?

Back 94

Violaceous perifollicular papules on the shins

Front 95

What hair findings will you see with Vitamin C deficiency?

Back 95

Corkscrew hairs
-break easily

Front 96

What deficiency causes "Toad-like" skin?

Back 96

Vitamin A deficiency

Front 97

Phrynoderma is caused by excessive development of what?

Back 97

Excessive amounts of Keratin in hair follicles
-caused by vitamin A deficiency

Front 98

Phrynoderma can look similar to what common skin lesion?

Back 98

Prurigo nodularis

Front 99

Multiple Hamartoma Syndrome is also known as what?

Back 99

Cowden's Syndrome

Front 100

What 3 skin lesions are seen in Cowden's Syndrome?

Back 100

1) Trichole-MOO-mas (Moo goes the Cow)
2) Palmoplantar keratoderma
3) Cobble-stoning of the oral mucosa

Front 101

What gene defect is associated with Multiple Hamartoma Syndrome?

Back 101

PTEN
-tumor supressor gene

Front 102

What gene defect is seen in Cowden's syndrome?

Back 102

PTEN

Front 103

Cowden's syndrome is associated with increased susceptibility of what 2 types of cancer?

Back 103

1) Breast
2) Thyroid

Front 104

Multiple Tricholemmomas on the face is associated with what cancer syndrome?

Back 104

Cowden's Syndrome

Front 105

Acquired Ichthyosis is associated with what infectious pulmonary disease?

Back 105

Pulmonary TB

Front 106

What skin lesions are seen in Multiple Myeloma?

Back 106

Raccoon eyes
-atraumatic ecchymoses in a periorbital and perioral distribution

Front 107

What AR condition is characterized by diffuse flat-topped warts?

Back 107

Epidermodysplasia Verruciformis (EDV)

Front 108

What HPV-type is associated with EDV?

Back 108

HPV-5

Front 109

50% of EDV pts have associated malignant change in what area of the skin?

Back 109

Sun-exposed skin

Front 110

Where is the split in SSSS?

Back 110

Intraepidermal split in the granular layer

Front 111

SSSS is associated with Staph Aureus phage group what?

Back 111

Phage group 2
-Types 71 & 55

Front 112

What 2 exotoxins are produced by S. aureus in SSSS?

Back 112

1) Exfoliatin A (ET-A)
2) Exofoliatin B (ET-B)

Front 113

What is the antigen attacked in SSSS?

Back 113

Desmoglein 1

Front 114

Bacillary Angiomatosis is caused by what bacteria?

Back 114

Bartonella Henselae

Front 115

Bacillary Angiomatosis associated with lytic bone lesions is caused by what bacteria?

Back 115

Bartonella Quintana

Front 116

Painful red to purple papules on the skin that become systemic affecting the spleen, liver and bone is what disease?

Back 116

Bacillary Angiomatosis

Front 117

Sporotrichosis is caused by...

Back 117

Sporothrix Schenckii

Front 118

Sporothrix Schenckii is what type of fungus?

Back 118

Dimorphic fungus, living as a saprophyte on plants

Front 119

What histological finding can be seen in Sporotrichosis?

Back 119

Asteroid Bodies

Front 120

Asteroid bodies are pathomnemonic for what?

Back 120

Sarcoidosis

Front 121

A patient with Bowen's disease and punctate yellow papules on the palms and soles is being exposed to what?

Back 121

Arsenic

Front 122

Describe arsenical keratosis

Back 122

Palmoplantar keratosis, look like AK's and associated with Bowen's disease

Front 123

What does POEMS stand for?

Back 123

Polyneuropathy
Organomegaly
Endocrinopathy
Monoclonal gammopathy
Skin changes

Front 124

What is the term used to describe whitening of the proximal nail?

Back 124

Terry's Nails

Front 125

Terry's Nails are seen with what multisystemic disease?

Back 125

POEMS

Front 126

What is another name for Hobnail Hemagnioma?

Back 126

Targetoid Hemosiderotic Hemangioma

Front 127

What are the 2 characteristic clinical findings of a hobnail or targetoid hemosiderotic hemangioma?

Back 127

Solitary violaceous papule surrounded by a red ring or halo

Front 128

HHV-8 is known to cause what disease?

Back 128

Kaposi's Sarcoma

Front 129

What is another name for Follicular Mucinosis?

Back 129

Alopecia Mucinosa

Front 130

The hair loss in follicular mucinosis is caused by what?

Back 130

Mucin deposition in hair follicles and sebaceous glands.