Genoderms Syndrome Flashcards Preview

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Flashcards in Genoderms Syndrome Deck (257)
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91

A person has kidney cancer, multiple skin tags and little skin nodules, and is now short of breath. what could it be?

Birt Hogg Dube syndrome

multiple trichodisc, fibrofolliculomas, acrochordons, chromophobe RCC, renal oncocytoma, and SPONTANEOUS PNEUMOTHORAX!)

92

Disorder with multiple lentigenes, lipomas, and hemangiomas

Bannayan-Riley-Ruvalcaba Syndrome (PTEN)

93

Mucocutaneous lentigenes, genital lentigenes, longitudinal melanonychia

Laugier-Hunziker Syndrome

94

Which PPV have congenital dermal melanocytosis?

Types II and IV

95

Type of EB associated with deafness

Dowling-Meara = EBS Herpetiformis

96

EB associated with deafness

Dowling Meara (EBS Herpetiformis)

97

EB associated with clumped tonofilaments

EBS Herpetiformis (Dowling-Meara)

98

EBS with reticulated hyperpigmentation over the trunk

EBS with Mottled pigmentation (AR with mutation in K5)

99

EB with exuberant granulation tissue

JEB Herlitz type (ED lethalis) *one of the ones with premature termination codon

100

Kind of EB with defect in Type VII Collagen

Dystrophic EBs (defect in the Sublamina Densa)

101

Bloch-Sulzbergers syndrome

Incontinentia Pigmenti

102

genoderm with sporadic inheritance pattern

ovarian cystadenomas

Proteus syndrome

103

Inheritance pattern for hypermelanosis of Ito

sporadic

104

inheritance pattern for sturge weber

sporadic

105

inheritance pattern for Cowdens

AD

106

Name some genoderms with sporadic inheritance patterns?

Proteus
McCune Albright
Hypomelanosis of Ito
Sturge Weber

107

which MEN syndrome is caused by a mutation in the tumor suppressor menin?

MEN-1

108

Wermer syndrome

MEN-1

109

Another name for MEN-1?

Wermer syndrome

110

Angiofibromas, collagenomas, lipomas, CALMs

pituitary parathyroid pancreatic tumors

MEN-1

111

MEN-1

Pituitary
Pancreatic
Parathyroid

Angiofibromas, collagenomas, lipomas, CALMS

112

Sipple syndrome

MEN-2

113

MEN syndrome due to a RET mutation (tyrosine kinase receptor)

MEN2a, 2b

114

MEN2a

Pheochromocytoma
Parathyroid
Medullary Thyroid


Lichen or macular amyloidosis, hemangiomas, genital lentigenes, hamartomas

115

MEN2b

Pheochromocytoma
Medullary thyroid


Mucosal neuromas, thickened lips, marfanoid habitus, megacolon

116

Mutation in p63

Hay Wells syndrome and other ectodermal dysplasias which cause ankeloblepharon

117

Gene defect in EHK

Keratin 1,10

118

Mild erythroderma in infancy with large translucent scales
Evolves into brown dirty scales
Spares palms/solesface
Mother with failure to progress in labor

X-linked ichtyosis

119

Which ichthyosis occurs after failure to progress in labor/ low estrogen in the urine?

X/linked ichthyosis

120

What cancer are kids with X linked ichthyosis prone to get?

Testicular (Crypchorchdism)