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DERMATOLOGY > Genoderms Syndrome > Flashcards

Genoderms Syndrome Flashcards

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1
Q

lentigenes, ECG defects, pulmonary stenosis, genetalia defects, ocular hypertelorism, deafness, and retardation of growth

A

LEOPARD Syndrome (Moynahan syndrome)

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2
Q

photodistributed erythema
high pitched voice
decreased immunoglobulins (IgM/IgA) causing chronic respiratory infections
increased risk for GI adenocarcinoma, leukemia

A

Bloom Syndrome (congenital telangiectatic erythema)

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3
Q 
plucked chicken skin 
angioid streaks
retinal hemorrhage
gastric artery hemorrhage*
MVP
fragmented calcified elastin of skin/eyes/arteries
A

PXE (Pseudoxanthoma Elasticum)

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4
Q

gastric artery hemorrhage

A

PXE

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5
Q

high pitched voice + photodistributed erythema

A

Bloom syndrome

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6
Q

Bloom syndrome has increased risk for which cancer?

A

GI andenocarcinoma (also leukemia)

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7
Q

Moynahan syndrome is another name for what?

A

LEOPARD SYNDROME

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8
Q

Name the findings in LEOPARD syndrome

A 
Lentigines
ECG abnormalities
Ocular telorism
Pulmonary stenosis
Abnormal Genetalia
Retardation of growth
Deafness
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9
Q

Angioid streaks plus retinal hemorrage

A

PXE

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10
Q

Multiple KAs

A

Ferguson Smith,

*also found in Muire Torre Syndrome

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11
Q 
cutaneous myxomas
areola myxomas
atrial myxomas
Cushings syndrome from primary pigmented nodular adrenocortical disease
psammomatous melanotic schwannomas
A

Carney Syndrome

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12
Q

LAMB or NAME syndrome

A

Carney Syndrome

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13
Q

name the findings in LAMB/NAME/Carney complex

A

Lentigenes
Atrial Myxoma
Mucocutaneous myxomas
Blue nevi

Nevi
Atrial myxomas
Myxoid tumors
Ephelids

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14
Q

psammomatous melanotic schwannomas

A

Carney Complex

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15
Q

Atrial myxomas

A

Carney complex

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16
Q

psammomatous melanotic schwannomas

A

Carney Complex

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17
Q

Atrial myxomas

A

Carney complex

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18
Q

multiple fractures
thin skin
blue sclera
MVP**

A

Osteogenesis Imperfecta Type 1

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19
Q

Type of OI with MVP

A

OI 1

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20
Q

beaded ribs

A

Osteogenesis Imperfecta Type II

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21
Q

Crumpled humeri

A

Osteogenesis Imperfecta Type II

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22
Q

“reticulate grey brown hyperpigmentaion of the neck and face”

A

Dyskeratosis Congenita

  • poikiloderma of the face, trunk, thighs
  • nail dystrophy (pterygium)
  • premalignant leukoplakia of the buccal mucosa
  • frictional bulla
  • PPK
  • bone marrow failure
  • increased risk of CA
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23
Q

Major cause of mortality in Dyskeratosis Congenita

A

Bone marrow failure! 90%!!!! (anemia, thrombocytopenia)

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24
Q

Premalignant leukoplakia

A

Dyskeratosis Congenita

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25
Q

Non premalignant oral leukoplakia

A

Pachonychia Congenita (vs Dyskeratosis Congenita which has PREMALIGNANT oral leukoplakia)

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26
Q 
mental retardation
poikiloderma
nail dystrophy
weird tongue lesion
thrombocytopenia
dental carries with loss of teeth
PPK
A

Dyskeratosis Congenita

  • pterygium (nail dystrophy)
  • thrombocytopenia
  • poikiloderma
  • oral premalignant leukoplakia
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27
Q

Zinsser-Engman-Cole Syndrome

A

Dyskeratosis Congenita

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28
Q

Genoderm characterized by short telomeres

A

Dyskeratosis Congenita

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29
Q

clumped tonofiliments

A

EM finding seen in Dowling Maera Type EBS

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30
Q 
grouped or herpetiform blisters at birth
hoarseness
PPK
mucosal membrane/laryngeal involvement
nail dystrophy
early death
A

Dowling-Maera EBS

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31
Q

Other name for EB Herpetiformis

A

Dowling-Maera

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32
Q

What finding to do you see on EM in Dowling Maera EBS?

A

clumped tonofilaments

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33
Q

What is the only EBS that is not AD transmitted?

A

EB with muscular dystrophy (AR) defect in plectin

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34
Q

Which two types of EBS heal WITHOUT scarring?

A 
Localized EBS (Weber-Cockayne)
Generalized EBS (Koebner)
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35
Q

Where is the split in EBS?

A

BASAL LAYER

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36
Q

Where is the split in Junctional EB?

A

Lamina Lucida (BMZ)

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37
Q

Where is the split in Junctional EB?

A

Sublamina Densa (Dermal)

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38
Q

Type of EB with “exuberant granulation tissue”

A

Herlitz (EB Lethalis)

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39
Q 
severe widespread bulla from birth
exuberant granulation tissue
enamel defects
absent nails
early death
A

Herlitz Junctional EB (EB Lethalis)

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40
Q

type of EB which heals with “atrophic scarring”
and
“scarring alopecia”

A

Non-Herliz Junctional EB (Generalized Atrophic Benign EB)

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41
Q 
widespread bulla at birth
heals with atrophic scarring
scarring alopecia 
nail dystrophy
improves with time
A

Non-Herlitz Junctional EB (Generalized Atrophic Benign EB)

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42
Q

What other physical exam finding does EB with pyloric atresia have?

A

Hydronephrosis

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43
Q

An EB patient gets hydronephrosis. What type EB does he have?

A

Junctional EB with pyloric atresia

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44
Q

An EB pt gets hydronephrosis - what is the gene defect?

A

alpha-6-beta-4 integrin. This is Junctional EB with pyloric atresia

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45
Q

Mode of inheritance for all of the Junctional EBs?

A

AR

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46
Q

Hallopeau-Siemens

A

Recessive Dystrophic EB

Autosomal Recessive

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47
Q

Hallopeau-Siemens inheritance pattern and gene defect:

A

AR and defect in Collagen Type VII

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48
Q

Dystrophic EB split

A

Dermal - sublamina densa (Collgen Type VII)

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49
Q

Name the two AR Dystrophic EB types

A

Hallopeau-Siemens

Non-Hallopeau Siemens

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50
Q

Which dystrophic EB is due to a premature termination codon?

A

Hallopeau-Siemens

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51
Q

Which two types of EB are due to premature stop codons?

A

Hallopeau-Siemens &

Herlitz (EB Lethalis)

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52
Q 
severe widespread bulla at birth
heals with atrophic scarring on hands and feet
= "mitten deformity"
milia
nail dystrophy
mucosal strictures
oral, esophageal, cutaneous SCCs
A

Hallopeau-Siemens Dystrophic EB

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53
Q

mitten deformity

A

Hallopeau-Siemens Dystrophic EB

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54
Q

what type of cancers are kids with Hallopeau-Siemens disorder at risk for?

A

SCCs - Oral, esophageal, cutaneous SCCs

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55
Q

where are the skin changes in non-Hallopeau Siemens located?

A

Less severe form of HS Dystrophic EB with skin changes localized to acral bony prominences

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56
Q

Cockayne-Touraine

A

Dystrophic EB with bullae on extremities, heal with milea, atrophic scars/keloids, nail dystrophy

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57
Q

Pasini Varient

A

Dystrophic EB - like Cockayne-Touraine but with albo-papuloid lesions (white perifollicular papules which slowly enlarge)

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58
Q

gene defect in Pasini Variant of EB?

A

AD

Type VII Collagen

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59
Q

“albo-papuloid lesions”

A

Pasini Variant of EB Dystrophic

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60
Q

white perifollicular papules on the hands, sacrum, which slowly enlarge. been there since young childhood

A

albopapuloid lesions in Pasini variant dystrophic EB (also called dominant dystrophic EB)

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61
Q

Ankyloblepharon
erosive scalp dermatitis
cleft lip

A

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

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62
Q

dermatofibrosis lenticularis disseminata

A

elastomas/connective tissue nevi found in Buscke-Ollendorf Syndrome

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63
Q

osteopokilosis

A

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

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64
Q

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

A

NO they are not

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65
Q

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

A

Buscke-Ollendorf Syndrome

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66
Q

Xeroderma Pigmentosum has early onset of which skin malignancy?

A

ALL OF THEM! EVENLY!

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67
Q

caused by a defect in nucleotide excision repair pathway

A

XP

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68
Q

solar lentigo by age 2

A

XP

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69
Q

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

A

XP

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70
Q

what type of deafness is associated with XP?

A

PROGRESSIVE deafness (not born that way)

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71
Q

What kind of neurologic abnormalities do pts with XP have?

A

trick question: NO neuorologic abnormalities

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72
Q

the type of XP that does have severe neurologic abnormalities

A

DeSanctis-Cacchione syndrome

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73
Q

DeSanctis-Cacchione syndrome

A

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

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74
Q

Name the findings in Gorlin syndrome

A

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

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75
Q

Sprengel deformity

A

Basal Cell Nevus Syndrome (Gorlin)

sprengle deformity is congenital elevation of the scapula

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76
Q

atrophoderma vermiculata

A

Rombo syndrome

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77
Q 
atrophoderma vermiculata
BCC
loss of lateral eyebrows
peripheral venous dilitation 
blue lips 
acral erythema
A

Rombo syndrome

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78
Q

Multiple small eruptive KAs that appear like milia then regress

A

Gryzbowski KA syndrome

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79
Q

Sign of Leser Trelat

A

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

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80
Q

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

A

65%

65%SCC
10%BCC
4.5Melanoma

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81
Q

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

A

Nevus Comedomicus

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82
Q

Nevus Comedomicus associated with what syndrome?

A

Apert syndrome

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83
Q 
hypotrichosis
diffuse ppk
nail dystrophy -milky white
NORMAL teeth and sweating
MR, ocular abnormalities
A

Claustons’ Hidrotic Ectodermal Dysplasia

-defect in connexin 30 GJB6 (gap junction B6)

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84
Q

kid with tons of lentigos in the month

intususseption

A

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

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85
Q

multiple lentigenies
penis lentigos
lipomas
hemangiomas

A

Bannayan-Riley-Ruvalcaba Syndrome

PTEN

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86
Q

Brooke-Spiegler

A

Trichoeps + cylindromas

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87
Q

Brooke-Fordyce

A

AD Multiple Trichoepitheliomas

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88
Q

Rombo syndrome

A 
Trichoeps
BCC
milia
atrophoderma
vasodilation with cyanosis
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89
Q

Birt-Hogg-Dube syndrome systemic symptoms

A

spontaneous pnuemothorax
renal oncocytomas
chromophone RCC

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90
Q

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

A 
Chest XRAY (spontaneous pneumothorax)
Abdominal CT( check for renal oncocytomas, chromophobe RCC)
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91
Q

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

A

Birt Hogg Dube syndrome

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

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92
Q

Disorder with multiple lentigenes, lipomas, and hemangiomas

A

Bannayan-Riley-Ruvalcaba Syndrome (PTEN)

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93
Q

Mucocutaneous lentigenes, genital lentigenes, longitudinal melanonychia

A

Laugier-Hunziker Syndrome

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94
Q

Which PPV have congenital dermal melanocytosis?

A

Types II and IV

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95
Q

Type of EB associated with deafness

A

Dowling-Meara = EBS Herpetiformis

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96
Q

EB associated with deafness

A

Dowling Meara (EBS Herpetiformis)

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97
Q

EB associated with clumped tonofilaments

A

EBS Herpetiformis (Dowling-Meara)

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98
Q

EBS with reticulated hyperpigmentation over the trunk

A

EBS with Mottled pigmentation (AR with mutation in K5)

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99
Q

EB with exuberant granulation tissue

A

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

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100
Q

Kind of EB with defect in Type VII Collagen

A

Dystrophic EBs (defect in the Sublamina Densa)

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101
Q

Bloch-Sulzbergers syndrome

A

Incontinentia Pigmenti

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102
Q

genoderm with sporadic inheritance pattern

ovarian cystadenomas

A

Proteus syndrome

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103
Q

Inheritance pattern for hypermelanosis of Ito

A

sporadic

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104
Q

inheritance pattern for sturge weber

A

sporadic

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105
Q

inheritance pattern for Cowdens

A

AD

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106
Q

Name some genoderms with sporadic inheritance patterns?

A

Proteus
McCune Albright
Hypomelanosis of Ito
Sturge Weber

107
Q

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

A

MEN-1

108
Q

Wermer syndrome

A

MEN-1

109
Q

Another name for MEN-1?

A

Wermer syndrome

110
Q

Angiofibromas, collagenomas, lipomas, CALMs

pituitary parathyroid pancreatic tumors

A

MEN-1

111
Q

MEN-1

A

Pituitary
Pancreatic
Parathyroid

Angiofibromas, collagenomas, lipomas, CALMS

112
Q

Sipple syndrome

A

MEN-2

113
Q

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

A

MEN2a, 2b

114
Q

MEN2a

A

Pheochromocytoma
Parathyroid
Medullary Thyroid

Lichen or macular amyloidosis, hemangiomas, genital lentigenes, hamartomas

115
Q

MEN2b

A

Pheochromocytoma
Medullary thyroid

Mucosal neuromas, thickened lips, marfanoid habitus, megacolon

116
Q

Mutation in p63

A

Hay Wells syndrome and other ectodermal dysplasias which cause ankeloblepharon

117
Q

Gene defect in EHK

A

Keratin 1,10

118
Q

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

A

X-linked ichtyosis

119
Q

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

A

X/linked ichthyosis

120
Q

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

A

Testicular (Crypchorchdism)

121
Q

Test for X-linked ichthyosis?

A

Serum lipoprotein electrophoresis (detects accumulation of steroid sulfatase)

122
Q

What is the difference in the distribution of the involvement of X-linked ichtyosis and lamellar ichtyosis?

A

X-linked is extensor involved and spares the flexures, vs all the other ichtyosis involve the flextures

123
Q

Which is the o KU ichtyosis that spares the flexures?

A

X-linked ichtyosis

124
Q

“Corrugated cardboard”

A

Epidermolytic Hyperkeratosis (EHK)

125
Q

What part of the body is spared in X-Linked ichthyosis?

A

Palms, soles, face

126
Q

Which are the only two ichthyosis that do not have PPK?

A

X-linked Ichthyosis and Ichthyosis Bullosa of Siemens

127
Q

Which Ichthyosis presents with mild erythroderma and blistering

A

Ichthyosis bullosa of Siemens

128
Q

Comma shaped corneal opacifications

A

X-linked Ichthyosis

129
Q

Periodical “glistening” white dots in occular fundus

A

Sjogren-Larson Syndrome. “Snowy dots” , “jog” with a spastic gait

130
Q

Ichytosis with spastic gait

A

Sjogren Larson

131
Q

Unilateral ichthyotic erythroderma, ipsilateral alopecia, limb defects

A

CHILD syndrome

132
Q

Stipples epiphyses

A

CHILD syndrome. Also Condradi-Hunermann-Happle syndrome

133
Q

New AR form of EB

A

Dystonan. (BPAG)

134
Q

Three syndromes associated with milea

A

Oro-facial-digital syndrome, Rombo, Basex

Goblins, brooke-Speigler

135
Q

Genoderm resulting from defect in:

Enzyme 3b-hydroxysteroid-dehydrogenase

A

CHILD syndrome

136
Q

Which genoderm has stippled epiphysis in early infancy but resolve during childhood

A

CHILD

137
Q

Besides CHILD syndrome, what other genoderm has stippled epiphysis

A

Condrodysplasia Punctata

138
Q

Ipsilateral alopecia, erythroderma, organ aplasia, skeletal defects, stippled epiphysis

A

CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)

139
Q 
Symmetric erythematous hyperkeratosis plaques on knees, elbows, and face at birth
PPK
Congenital sensorineural deafness
Vascularizing keratitis
Infections
SCC
A

KID syndrome

140
Q

What kind of deafness is associated with KID syndrome

A

Congenital sensorineural deafness.

141
Q 
Mild ichthyosis
Cerebellar ataxia
Peripheral neuropathy 
Retinitis pigmentosa
Deafness
A

Refsum Disease

142
Q

Salt and pepper retinitis pigmentosa

A

Refsum

143
Q

Name some findings of Refsum disease

A 
Retinitis pigmentosa (salt and pepper)
Deafness
Ichthyosis
Peripheral neuropathies
Ataxia
144
Q

In addition to Ataxia-Telangiectasia, name another genoderm which causes cerebellar ataxia?

A

Refsum Disease

145
Q

Genoderm caused by defect in Peronist all phytanolyl-CoA hydroxylase

A

Refsum

146
Q

What substance is accumulated in Refsum?

A

Phytanic acid

147
Q

Treatment for Refsum?

A

Dietary restriction of phytanic acid

148
Q

What are the verrucous papules on the back of the hands in Dariers called?

A

Acrokeratosis verruciformis of Hopf

149
Q

Acrokeratosis verruciformis of Hopf

A

Verrucous hyperkeratotic papules on dorsal hands in Dariers disease

150
Q

Nail findings in Darier

A

Red and white alternating longitudinal bands
V shaped nicks at distal plate
Subungal hyperkeratosis

151
Q

Oral findings in Darier

A

Cobblestoning of the oral and anogenital mucosa

152
Q 
Atrophoderma vermiculata
BCC
Milia
Hypotrichosis
Trichoeps
Vasodilation with cyanosis
A

Rombo

153
Q 
"String of pearls" over eyelids
Hoarse voice
Bean-shaped temporal/hippocampal calcifications
Large wooden tongue 
Waxy yellow papules of the face
A

Lipoid Proteinosis

*ECM-1 gene

154
Q

ECM-1 gene

A

Lipoid Proteinosis (ECM-1 gene also in lichen sclerosis)

155
Q

“String of pearls” around eyelid

A

Lipoid proteinosis

156
Q

Bean-shaped temporal calcification

A

Lipoid Proteinosis

157
Q

Hippocampal calcifications with seizures

A

Lipoid proteinosis

158
Q

Name the skin findings in Lipoid Proteinosis

A

Waxy yellow papules of the face

String of pearls on the eyelids

159
Q

Recurrent Infections
Thrombocytopenia
Eczema

A

Wiskott-Aldrich-Syndrome
(Immunodeficiency with Thrombocytopenia)

*butler with an askott without enough plates)

160
Q

What two diseases have retinitis pigmentosa? (Salt and pepper)

A

Cockayne and Refsum

161
Q

Immune deficiency
GI adenocarcinoma
Defect in RecQ

A

Bloom syndrome

162
Q

What immune deficiency does Bloom have?

A

IgM, IgA. *like MA mas boy

163
Q

What type of cancer does Blood syndrome get?

A

GI adenocarcinoma

164
Q

Increased risk of Osteosarcoma

A

Rothmund-Thompson. (Rotheosarcoma)

165
Q

Hypoplastic thumbs

A

Rothmund-Thompson

166
Q

Broad thumbs

A

Rubinstein-Tayabi

167
Q 
Photodistributed erythema which ends up as poikiloderma
Hypoplastic thumbs and radia-ulna 
Osteosarcoma
Premalignant acral keratosis
Recql4
A

Rothmund-Thompson

168
Q

Inheritance pattern of Dyskeratosis Congenita

A

XLR

169
Q

Severe and frequent sinopulminary infections
Erythematous cheeks
Ataxia

*WHAT cancer to watch out for?

A

Breast cancer!!!

170
Q

What cancer is increased in Ataxia Telangiectasia?

A

Breast Cancer

171
Q

Comma shaped corneal opacities

A

X-Linked ichthyosis

172
Q

Periofovial glistening dots

A

Sjogren-Larson

173
Q

Ichthyosis with spastic ditetrplegia

A

Sjogren Larson

174
Q

Gene defect in Conrad-Hunermann-Happle Syndrome

A 
EBP gene (enamel binding protein)
*Conrad has pearly white teeth (enamel)
175
Q 
Ichthyosis replaced with ice-pick scars, follicular atrophoderma
Stippled epiphysis 
Cataracts
Deafness
Scarring alopecia
Frontal bossing flat nasal bridge
A

Conrad-Hunermann-Happle Syndrome (XLD Chondrodysplasia)

176
Q

What is the gene mutation in School-Shultz-Passarge?

A

WNT-1

*went shopping

177
Q

Unna Thost PPK

A

Mutation in K1 (unna*)
Unna thost is non-Epidermolytic PPK
-PPK with erythematous border,no transgradiens, pitted keratolysis, secondary tinea

178
Q

Vorner Syndrome

A

Epidermolytic PPK
Mutation in K1 or K9
*similar to Unna Thost but has EHK on histology

179
Q

Mal de Maleda

A

SLURP
*Transgredients - involves hands feet, elbows, knees
Maloder and secondary infections
Perioral erythema

180
Q

Gene defect in both Lamellar Ichthyosis and CIE (Congenital Ichthyosiform Erythroderma)

A

TGM-1

And then in Lamellar there is also ABCCA, and in CIE there is also ELOX

181
Q

Cowdens + brain tumor

A

Lhermitte-Duclos

182
Q

What is sipple syndrome?

A

MEN2a

183
Q

What cutaneous finding in sipple syndrome

A

Amyloidosis

184
Q

What is Wermer syndrome

A

MEN1a

185
Q

What is the side effect from Selsun Blue shampoo called?

A

Xanthotrichia (yellow hair)

186
Q

Two syndromes with follicular atrophoderma:

A

Bazex Syndrome
Conradi-Hunermann-Happle Syndrome

*Rombo has atrophoderma vermiculatum which is the same thing just limited to ice-pick scars on the cheeks)

187
Q

Multiple BCCs
Hypotrichosis
Hypohidrosis
Follicular atrophoderma (dorsal hands and feet)

A

Bazex Syndrome

*XLD

188
Q

Inheritance pattern of Conradi-Hunermann-Happle

A

XLD

189
Q

CHIRPE

A

Gardner syndrome (congenital hypertrophy of the retinal pigment epithelium)

190
Q

What type of cancer (besides GI) are patients with Gardner syndrome

A

Papillary thyroid cancer
Hepatoblastoma
Adrenal adenoma

191
Q

Supranumerary teeth

A

Gardners

192
Q

Two syndromes with defect in Recql2

A

Bloom syndrome

Werner (adult progeria)

193
Q

What do patients with Progeria die from?

A

Cardiovascular complications

194
Q

“Nuclear” blebbing

A

Progeria

195
Q

Abnormal protein lamin A causes which genoderm?

A

Progeria

196
Q

Another name for childhood onset Progeria?

A

Hutchinson-Gilford Syndrome

197
Q

Hutchison Gilford Syndrome

A

Progeria

198
Q

Another name for adult progeria

A

Werner Syndrome

199
Q

Retained primary teeth

A

Hyper IgE (Jobs Syndrome)

200
Q

Mutation in JOBs syndrome

A

AD form - STAT3 mutation

AR form - TYK2

201
Q 
Cold abscesses 
Papulopustular eczema 
Coarse facies 
Retained primary teeth
Brittle bones
A

Hyper IgE syndrome (Jobs)

202
Q

Gene defect in Chronic Granulomatous Disease

A

CYBB (cytochrome B subunit) recurrent staph infections

203
Q

CYBB gene in Chronic Granulomatous disease encodes what protein

A

NADPH (inhibits the respiratory burst so cant defend from staph infections)

204
Q

What is the inheritance pattern for chronic granulomatous disease

A

XLR

205
Q

Thrombocytopenia
Eczema
Recurrent bacterial infections

A

Wiskott-Aldrich Syndrome

206
Q

What type of malignancy does Wiskott-Aldrich Syndrome get?

A

NHL in 20% of people

207
Q

What antibodies are low in Wiskott Aldrich?

A

Low IgM

208
Q

Dystopia canthorum

A

Wardenburg (especially type I)

209
Q

Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis

A

Waardenburg (Type I) - also obvious see a white forelock

210
Q

Waardenburg type one gene defect

A

PAX3

*PAX MIT(tens) PAX SOx

211
Q

Which two types of Waardenburg have deafness?

A

Type II and IV (MITF, and SOX, respectively)

*stuff socks/mittens in your ears

212
Q

Which type of Waardenburg associated with Hirschsprung disease

A

Type IV (SOX mutation)

213
Q

Waardenburg with upper limb abnormalities

A

Type III

214
Q

Aplasia cutis associated with what genoderm

A

Dominant Dystrophic EB (Bart Syndrome)

215
Q

Dystopia canthorum

A

Wardenburg (especially type I)

216
Q

Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis

A

Waardenburg (Type I) - also obvious see a white forelock

217
Q

Waardenburg type one gene defect

A

PAX3

*PAX MIT(tens) PAX SOx

218
Q

Which two types of Waardenburg have deafness?

A

Type II and IV (MITF, and SOX, respectively)

*stuff socks/mittens in your ears

219
Q

Which type of Waardenburg associated with Hirschsprung disease

A

Type IV (SOX mutation)

220
Q

Waardenburg with upper limb abnormalities

A

Type III

221
Q

Gene mutation in Pachyonychia type I

A

K6a/16

222
Q

Gene mutation in Pachyonychia Type II

A

K6b/17

223
Q

Jadassohn-Lewandowsky

A

Pachyonichia Type I (K6a/K16)

224
Q

Jackson-Lawler

A

Pachyonychia Type II

225
Q

Dystrophic nails, palmoplantar keratoderma, oral leukokeratosis (benign)

A

Pachyonychia Congenita Type I (Jadassohn-Lewandowsky)

226
Q

Name the findings of Pachyonychia Congenita Type I

A

Jadassohn-Lewandowsky (K6a/K16)
PPK
Nail dystrophy
Oral leukokeratosis

227
Q 
Dystrophic Nails
PPK
Steatocystoma
Epidermal cysts
Natal Teeth
A

Pachyonychia Congenita Type II (Jackson-Lawler)

228
Q

Name the findings of Pachyonychia Congenita Type II

A 
Jackson-Lawler (Type II)
PPK
Nails 
Steatocystoma multiplex
Natal teeth
Epidermal cysts
229
Q

Natal teeth

A

Pachyonychia Congenita Type II

230
Q

Steatocystomas in a genoderm

A

Pachyonychia Congenita Type II

231
Q

Leiners disease

A

Chronic seb derm and infections that progress into erythroderma
-defect in C5

232
Q

Chronic seb derm and infections that progress into erythroderma
Defect in C5

A

Leiners disease

233
Q

Menkes disease is caused by deficiency in what cellular product

A

Defect in a copper transporter

234
Q

What vascular anomaly is found in Menkes

A

Tortuous arteries

235
Q

Sparse hair, Pear-shaped nose and cone-shaped epiphyses

A

Trichorhinophalangeal Syndrome

236
Q

Beaded hair with elliptical nodes along the shaft + KP

A

Monilethrix, due to defect in hHb1, hHb2

237
Q

Pili trianguli et canaliculi, spun glass hair

A

Uncombable hair syndrome

238
Q

Hair finding in Uncombable hair syndrome

A

Pili trianguli et canaliculi “spun glass hair”

239
Q

Fissured tongue, facial palsy, granulomatous cheilitis

A

Melkersson-Rosenthal syndrome

240
Q

Helical depression of the ear
Linear crease in the ear
Macroglossia
Wilms tumor

A

Beckwith-Weidman syndrome

241
Q

Name some of the findings of Beckwith-Weidham syndrome

A

Linear crease in the ear
Helical depressions
Macroglossia
Wilms tumor

242
Q

Name the tumor associated with Beckwith-Weidham syndrome

A

Wilms tumor

243
Q

12 year old boy with pains in the hands and feet
Whorled corneal opacities
Small red clustered papules on the body
Heart, kidney, GI problems

A

Fabry disease (defect in alpha-galactadose resulting in the accumulation of glycosphingolipids)

244
Q

What is usually the first presenting symptom in Fabrys?

A

Burning pain of the hands and feet

245
Q

Keratitis
Icthyosis
Deafness

A

KID syndrome! Defect in GJB2 (encoded connexin 26)

246
Q 
Glomerulonephritis
Posterior iliac horns
Hypoplastic patella
Triangular lunulae
Thickened scapula
Radial head subluxation
A

Nail Patella syndrome

247
Q

Name the findings in Nail Patella syndrome

A 
P-posterior iliac horns
A-Absent patella
T-thickened scapula
E- eye-Lester iris
L-lunulae, triangular
L - gLomerulonephritis
248
Q

Granular cell tumor is associated with which Genoderm?

A

Noonan Syndrome

249
Q

XLR mutation of SCID

A

Defect in the y chain of the IL-2 receptor

*the AR form of SCID is due to defect in JAK3 or ADA (adenosine deaminase)

250
Q

Defect in adenosine deaminase ADA

A

AR form of SCID

251
Q

Which genoderm has an increased risk of DFSP?

A

SCID

252
Q

Gene defect in congenital contractural arachnodactyly

A

Fibrillin 2

*can also be seen in Marfans. This condition has *Crumpled ears, long limbs, and arachnodactyly

253
Q

What type of neuro cancer do you get with Basal Cell Nevus syndrome?

A

Medullablastoma

254
Q

What solid organ tumor do patient’s with BCNS get?

A

Ovarian fibroma

255
Q

Fibrillin 1
Fibrillin 2
Fibulin 5

A

Fibrillin 1 is Marfans
Fibrillin 2 is congenital contractural arachnodactyly
Fibulin 5 is Cutis Laxa

256
Q

Name all of the XLD genoderms

A

BIG ChOMP

Bazex
Incontinentia Pigmenti
Goltz
CHILD
H
Oro-facial Digital Syndrome
MIDAS syndrome
P Chondrodysplasia Punctata
257
Q

Name the XLR genoderms

A

CHADS KINKY WIFE CHANDA

Chronic Granulomatous Disease
Hunter
Anhidrotic Ectodermal Dysplasia
Dyskeratosis Congenitas
SCID
Kinky - Menkes kinky hair 
Wiscott-Aldrich
Ichthyosis, X linked
Fabry
Ehlers-Danlos
Chondrodysplasia Punctata (not Conrad)
Hypohidrotic ED with Immunodeficiency
Agammaglobulinemia, Briton
N: Lesch Nyhan
258
Q

Name some “RAS-opathies” and what types of complications they have in common

A

Noonan, LEOPARD, Costello, Cardio-facio-cutaneous syndrome

All all cardiomyopathies, PULMONARY STENOSIS, coarse facies

259
Q

Gene defect in Cutis Laxa

A

Fibulin-5 (FBLN5). Is the AR form
AD form is Elastin
XLR form is ATP7a

260
Q

Complications of Cutis Laxa

A

Cardiac - right sided heart failure, aortic dilation/rupture

GI-diverticulae

261
Q

Current name for XLR Cutis Laxa

A

Occipital Horn Syndrome. Also used to be called Ehlers Danlos Type IX. Now OHS is thought to be a mild variant of Menkes kinky hair syndrome

262
Q

Ehlers Danlos Type IV is due to a defect is what gene mutation

A

Type III Collagen

263
Q

Gilts syndrome bone finding

A

Osteopathia striata

DERMATOLOGY (16 decks)

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