Other genodermatoses Flashcards

(42 cards)

1
Q

Multiple endocrine neoplasia

A
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2
Q

Cowden syndrome

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3
Q

Table of genodermatoses

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4
Q

Name the types of MEN (multiple endocrine neoplasia)

A
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5
Q

Discuss MEN 1

A
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6
Q

Discuss MEN type 2A

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7
Q

Discuss MEN 2B

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8
Q

Clinical manifestations of PTEN hamartoma tumor syndrome and screening recommendations

A
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9
Q

Revised clinical diagnostic criteria for PTEN hamartoma tumor syndrome

A
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10
Q

Gardner syndrome

A
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11
Q

Muir-Torre syndrome

A
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12
Q

Risk assessment for muir-torre syndrome (MTS)

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13
Q

Surveillance guidelines for patients with Lynch syndrome, including Muir-Torre syndrome

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14
Q

Name enzyme deficiency genodermatoses

A
  1. Alkaptonuria
  2. Biotinidase and holocarboxylase synthetase deficiencies
  3. Fabry disease
  4. Fucosidosis
  5. Gaucher disease
  6. Hartnup disease
  7. Mitochondrial disorders
  8. Niemann-Pick disease
  9. Phenylketonuria
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15
Q

Alkaptonuria

A
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16
Q

Biotinidase and holocarboxylase synthetase deficiency

A
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17
Q

Fabry disease

18
Q

Clinical features of alkaptonuria (picture)

19
Q

clinical features of fabry disease and fucosidosis

20
Q

Fucosidosis

21
Q

Disorders (genodermatoses) featuring tumorigenesis

A
  1. MEN
  2. Cowden syndrome
  3. Gardner syndrome
  4. Muire-Torre syndrome
22
Q

Premature aging syndromes and poikiloderma

A
  1. Hutchinson-Gilford progeria syndrome
  2. Werner syndrome
  3. MDPL syndrome
  4. Penttinen syndrome
  5. Acrogeria
  6. Kindler syndrome
  7. Cockayne syndrome
  8. Rothmund-Thomson
23
Q

Gaucher disease

24
Q

Inherited metabolic disorders associated with angiokeratoma corporis diffusum

25
Hartnup disease
26
Cutaneous manifestations of mitochondrial respiratory chain disorders
27
Mitochondrial disorders
28
Niemann-Pick disease
29
Phenylketonuria
30
Hutchinsons-Gilford progeria syndrome
31
Werner syndrome
32
Acrogeria/Gottron syndrome AnD Metageria
33
cockyane syndrome
34
Rothmund Thomson syndrome
35
Nuclear envelopathies
36
Classic ectodermal dysplasias
37
p63 related ectodermal dysplasia syndromes
38
Hipohidrotic ectodermal dysplasia
39
Hypohydrotic ectodermal dysplasia with immune deficiency
40
Hidrotic ectodermal dysplasia (clouston syndrome)
41
Ankyloblepharon-ectodermal defect cleft lip/palate syndromr
42
Ectodermal dysplasia ectrodactaly clefting syndrome