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Flashcards in Genoderms Syndrome Deck (257)
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61

Ankyloblepharon
erosive scalp dermatitis
cleft lip

Hay Wells Syndrome (AEC)
one of the ectodermal dysplasias
mutation in p63

62

dermatofibrosis lenticularis disseminata

elastomas/connective tissue nevi found in Buscke-Ollendorf Syndrome

63

osteopokilosis

ectopic calcifications in the bone; found in Buscke-Ollendorf Syndrome

64

are the osteopoikilosis in Buscke-Ollendorf Syndrome prone to fracture?

NO they are not

65

multiple yellow papules on the trunk, buttocks, arms that look like elastomas
weird ectopic bone tissue that is not prone to fracture

Buscke-Ollendorf Syndrome

66

Xeroderma Pigmentosum has early onset of which skin malignancy?

ALL OF THEM! EVENLY!

67

caused by a defect in nucleotide excision repair pathway

XP

68

solar lentigo by age 2

XP

69

lentigos plus a bunch of ocular abnormalities
(photophobia, keratitis, corneal opacification, vascularization)
progressive deafness

XP

70

what type of deafness is associated with XP?

PROGRESSIVE deafness (not born that way)

71

What kind of neurologic abnormalities do pts with XP have?

trick question: NO neuorologic abnormalities

72

the type of XP that does have severe neurologic abnormalities

DeSanctis-Cacchione syndrome

73

DeSanctis-Cacchione syndrome

The type of XP that does have severe neurologic abnormalities, plus deafness and ataxia

74

Name the findings in Gorlin syndrome

multiple BCCs (duh)
odontogenic cysts
calcification of the falx cerebri
dental enamel pits

75

Sprengel deformity

Basal Cell Nevus Syndrome (Gorlin)

sprengle deformity is congenital elevation of the scapula

76

atrophoderma vermiculata

Rombo syndrome

77

atrophoderma vermiculata
BCC
loss of lateral eyebrows
peripheral venous dilitation
blue lips
acral erythema

Rombo syndrome

78

Multiple small eruptive KAs that appear like milia then regress

Gryzbowski KA syndrome

79

Sign of Leser Trelat

acute eruption of SKs signaling internal malignancy (most common GI adenocarcinoma, breast, or leukemia)

80

How much increase in SCC risk is there for immunosuppressed/transplant pts?

65%

65%SCC
10%BCC
4.5Melanoma

81

This lesion from birth may represent a mosaic form of Apert syndrome

Nevus Comedomicus

82

Nevus Comedomicus associated with what syndrome?

Apert syndrome

83

hypotrichosis
diffuse ppk
nail dystrophy -milky white
NORMAL teeth and sweating
MR, ocular abnormalities

Claustons' Hidrotic Ectodermal Dysplasia
-defect in connexin 30 GJB6 (gap junction B6)

84

kid with tons of lentigos in the month
intususseption

Peutz Jeghers syndrome
STK11
mucocutaneous lentigenes, intestinal polyposis, intussusception, various malignancies

85

multiple lentigenies
penis lentigos
lipomas
hemangiomas

Bannayan-Riley-Ruvalcaba Syndrome
(PTEN)

86

Brooke-Spiegler

Trichoeps + cylindromas

87

Brooke-Fordyce

AD Multiple Trichoepitheliomas

88

Rombo syndrome

Trichoeps
BCC
milia
atrophoderma
vasodilation with cyanosis

89

Birt-Hogg-Dube syndrome systemic symptoms

spontaneous pnuemothorax
renal oncocytomas
chromophone RCC

90

person with multiple fibrofolliculomas, trichodiscs, skin tags. What else should you order for them?

Chest XRAY (spontaneous pneumothorax)
Abdominal CT( check for renal oncocytomas, chromophobe RCC)