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Human Genetics Spring 2023 > Genodermatoses > Flashcards

Genodermatoses Flashcards

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1
Q

What are the genes and mode of inheritance in Gorlin syndrome?

A

PTCH1 and SUFU
(AD)

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2
Q

What are the skin findings in Gorlin syndrome?

A

Multiple BCC
Palmoplantar pits
CALMs and lipomas

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3
Q

What are the non-skin findings in Gorlin syndrome?

A

Keratocystic odontogenic tumors
Skeletal anomalies
Fibromas
Lymphoma and Medulloblastoma

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4
Q

What is gene and mode of inheritance of Associated Polyposis (Gardner syndrome)?

A

APC (AD)

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5
Q

What are the skin findings in Associated Polyposis (Gardner syndrome)?

A

Epidermoid cysts and fibromas
Multiple pilomatricomas
Desmoid tumors

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6
Q

What are the non-skin findings in Associated Polyposis (Gardner syndrome)?

A

Osteomas
Dental abnormalities
CHRPE

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7
Q

What is gene and mode of inheritance MEN type 2B?

A

RET (AD)

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8
Q

What are the clinical findings in MEN type 2B?

A

Medullary thyroid carcinoma
Pheochromocytoma
Neuromas of the lips and tongue

Other:
Distinctive facies with enlarged lips
Ganglioneuromatosis of the GI tract
Marfanoid habitus

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9
Q

What is the gene and mode of inheritance in Peutz-Jeghers syndrome?

A

STK11 (AD)

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10
Q

What are the clinical findings in Peutz-Jeghers syndrome?

A

GI polyposis
Mucocutaneous pigmentation
Cancer predisposition

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11
Q

What are the main genes in Dyskeratosis Congenita/Telomere biology disorders?

A

TERT, TERC, DKC1, or TINF2
(16 genes total)

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12
Q

What are the clinical signs in Dyskeratosis Congenita/Telomere biology disorders?

A
  • Classic triad dysplastic nails, lacy reticular pigmentation and oral leukoplakia
  • Increased risk of BM failure, MDS or AML, solid tumors, and pulmonary fibrosis
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13
Q

What are the genes invovled in cutis laxa?

A

ATP6V0A2, ATP7A, EFE MP2, ELN, and FBLN5

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14
Q

What is aplasia cutis congenita?

A
  • Absence of skin, with or without the absence of underlying structures such as bone.
  • It most commonly affects the scalp
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15
Q

In what syndromes do you find aplasia cutis congenita?

A

Johanson-Blizzard syndrome and Adams-Oliver syndrome

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16
Q

What is a skin finding in Fabry disease?

A

Angiokeratomas

17
Q

What is a skin finding in Alkaptonuria?

A

Ochronosis (clinical appearance of blue-black or gray-blue pigmentation)

18
Q

What is an ectodermal finding in Arginosuccinate lyase deficiency?

A

Trichorrhexis nodosa (thickened or weak points (nodes) along the hair shaft cause your hair to break off )

19
Q

What is a skin finding in MPS II?

A

Nodular skin lesion

Human Genetics Spring 2023 (12 decks)

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