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DERMATOLOGY > PPKs and Ectodermal Dysplasias > Flashcards

PPKs and Ectodermal Dysplasias Flashcards

1
Q

Unna-Thost Syndrome

A

Non-epidermolytic PPK
AD
KQ
*ppk with erythematous border, secondary tinea, pitted keratolysis, no trangrediens

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2
Q

PPK with erythematous border, hyperhidrosis, secondary tinea reactions, pitted keratolysis, no transgrediens

A

Unna-Thost PPK (non-epidermolytic)

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3
Q

Vorner syndrome

A

Epidermolytic PPK

K1 or K9

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4
Q

clinically similar to Unna Thost PPK but with epidermolytic hyperkeratosis on path

A

Vorner syndrome (epidermolytic PPK)

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5
Q

Mal de Meleda

A

SLURP

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6
Q

Mutation in Unna-Thost syndrome

A

K1. (Non-epidermolytic PPK)

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7
Q

Mutation in Vorner syndrome

A

K1 or K9

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8
Q

Vorner syndrome is very similar to what other PPK?

A

Unna-Thost

Basically its the same )K1,K9) except Vorner has epidermolytic hyperkeratosis on path

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9
Q

Transgrediens PPK with malodor of the hands

A

Mal de Melinda

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10
Q

What facial finding do patients with Mal de Melinda get?

A

Perioral erythema

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11
Q

Mutilating keratoderma and deafness

A

VonWinkel syndrome

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12
Q

Mutation in VonWinkel syndrome

A

GJ26 (connexin 26)

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13
Q

Psuedoainhum

A

VonWinkel Syndrome

Psuedoainhum is a constriction of the 5th toe

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14
Q

What disease is Loricrin mutated in?

A

VonWinkel variant! (You get no deafness but more icthyosis)

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15
Q

Calcification of the falx/tentorium in a diffuse PPK

A

Papillon-Lefevre

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16
Q

Mutation in Cathepsin C

A

Papillon-Lefevre

&Haim Munk

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17
Q

PPK and periodontitis

A

Papillon-Lefevre and Haim Munk (Haim Munk also has onychogryphosis

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18
Q

PPK with periodontitis (trench mouth) and onychogryphosis (rams nails)

A

Haim Munk

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19
Q

Mutation in Haim Munk Disease

A

Cathepsin C

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20
Q

Mutation in Papillon-Lefevre

A

Cathepsin C

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21
Q

Cardiac Finding in Naxos

A

Right ventricular cardiomyopathy

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22
Q

Wooly hair
PPK
Cardiomyopathy

A

Naxos disease

23
Q

Wooly hair

A

Naxos

Also carvajal syndrome

24
Q

Mutation in Carvajal syndrome

A

Desmoplakin

25
Q

Heart finding in Carvajal Syndrome

A

Dilated cardiomyopathy

26
Q

Dilated cardiomyopathy and woolly hair

A

Carvajal syndrome

27
Q

Mutilating PPK and periorificial plaques

A

Olmsted Syndrome

28
Q

Mutilating perioral plaques, PPK

29
Q

Howel-Evans mutation

A

TOC gene (tylosis-oeophageal carcinoma)

30
Q

Focal PPK over areas of pressure plus esophageal carcinoma

A

Howel Evans Syndrome

31
Q

TOC gene

A

Howel Evans syndrome

32
Q

Pseudoherpetic keratitis

A

Richter-Hanhart Syndrome (Tyroinemia Type II)

33
Q

Another name for Tyrosinemia Type II

A

Richter-Hanhart Syndrome

34
Q

What do you treat Richner-Hanhart syndrome with?

A

Diet restricted in tyrosine and phenylalanine

35
Q

PAINFUL focal PPK

A

Richner-Hanhart Syndrome

36
Q

Painful focal ppk
Pseudoherpetic keratitis
Progressive MR
Treat with diet restriction of tyrosine and phenylalanine

A

Richter-Hanhart Syndrome

37
Q

Mutation in Richner-Hanhart syndrome

A

TAT (hepatic tyrosine amino-transferase)

38
Q

Tyrosine keratitis (tyrosine deposits in the eyes)

A

Richner-Hanhart syndrome

39
Q

Mutation in Striate PPK

A

Desmo Glenn 1 and desmoplakin 1

40
Q

Hyperkeratotic linear plaques on the volar fingers, proximal palms and soles

A

Striate PPK

41
Q

Another name for erythrokeratoderma Variabilis

A

Mendes de Costa

42
Q

Mutation in Mendes de Costa

A

GJB3, GJB4 (connexin 30.3, 31)

43
Q

Erythematous migratory patches lasting only minutes to days, with fixed hyperkeratotic plaques

A

Mendes de Costa (erythrokeratoderma variabilis)

44
Q

Connexin 30.3, 31

A

Same thing as GJB3, GJB4

*Mendes de Costa

45
Q

What cancer is Howell-Evans syndrome at risk for?

A

Esophageal CA

46
Q

Mutation in Clauston

A

GJB6 (connexin 30)

47
Q

Hypotrichosis
Normal teeth and sweating
Diffuse PPK
Ocular abnormalities

A

Clouston Syndrome (hidrotic ectodermal dysplasia)

48
Q

Mutation in connexin 30 (GJB6)

49
Q

Mutation in EDA (Ectodysplasin A)

A

Christ-Siemens-Touraine/ Hypohidrotic Ectodermal Dysplasia

50
Q 
Periorbital hyperpigmentation
ABSENT or conical teeth
Sweating with heat intolerance
Normal nails 
Everted thick lips
Increased broncopulmonary infections
A

Christ-Siemens-Touraine (Anhidrotic Ectodermal Dysplasia)

51
Q

Gene mutation in ectodermal dysplasia/skin fragility syndrome

A

Plakophilin-1

52
Q

Plakophilin-1

A

Ectodermal Dysplasia/Skin fragility syndrome

53
Q

Name some conditions with collodion baby

A 
Most common - no bullous congenital erythroderma
Lamellar ichthyosis 
Sjogren Larsson
Netherton
Hay-Wells syndrome
TTD
Gaucher Disease Type 2
Ectodermal Dysplasia
Neutral Lipid Storage disease
54
Q

Painful focal PPK in the first year of life, then developing painful corneal ulcers and painful keratitis

A

Richner-Hanhart syndrome (defect in tyrosinase)

DERMATOLOGY (16 decks)

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