Genoderms Syndrome Flashcards
1
Q
lentigenes, ECG defects, pulmonary stenosis, genetalia defects, ocular hypertelorism, deafness, and retardation of growth
A
LEOPARD Syndrome (Moynahan syndrome)
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)
3
Q
plucked chicken skin angioid streaks retinal hemorrhage gastric artery hemorrhage* MVP fragmented calcified elastin of skin/eyes/arteries
A
PXE (Pseudoxanthoma Elasticum)
4
Q
gastric artery hemorrhage
A
PXE
5
Q
high pitched voice + photodistributed erythema
A
Bloom syndrome
6
Q
Bloom syndrome has increased risk for which cancer?
A
GI andenocarcinoma (also leukemia)
7
Q
Moynahan syndrome is another name for what?
A
LEOPARD SYNDROME
8
Q
Name the findings in LEOPARD syndrome
A
Lentigines ECG abnormalities Ocular telorism Pulmonary stenosis Abnormal Genetalia Retardation of growth Deafness
9
Q
Angioid streaks plus retinal hemorrage
A
PXE
10
Q
Multiple KAs
A
Ferguson Smith,
*also found in Muire Torre Syndrome
11
Q
cutaneous myxomas areola myxomas atrial myxomas Cushings syndrome from primary pigmented nodular adrenocortical disease psammomatous melanotic schwannomas
A
Carney Syndrome
12
Q
LAMB or NAME syndrome
A
Carney Syndrome
13
Q
name the findings in LAMB/NAME/Carney complex
A
Lentigenes
Atrial Myxoma
Mucocutaneous myxomas
Blue nevi
Nevi
Atrial myxomas
Myxoid tumors
Ephelids
14
Q
psammomatous melanotic schwannomas
A
Carney Complex
15
Q
Atrial myxomas
A
Carney complex
16
Q
psammomatous melanotic schwannomas
A
Carney Complex
17
Q
Atrial myxomas
A
Carney complex
18
Q
multiple fractures
thin skin
blue sclera
MVP**
A
Osteogenesis Imperfecta Type 1
19
Q
Type of OI with MVP
A
OI 1
20
Q
beaded ribs
A
Osteogenesis Imperfecta Type II
21
Q
Crumpled humeri
A
Osteogenesis Imperfecta Type II
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
23
Q
Major cause of mortality in Dyskeratosis Congenita
A
Bone marrow failure! 90%!!!! (anemia, thrombocytopenia)
24
Q
Premalignant leukoplakia
A
Dyskeratosis Congenita
25
Non premalignant oral leukoplakia
Pachonychia Congenita (vs Dyskeratosis Congenita which has PREMALIGNANT oral leukoplakia)
26
```
mental retardation
poikiloderma
nail dystrophy
weird tongue lesion
thrombocytopenia
dental carries with loss of teeth
PPK
```
Dyskeratosis Congenita
- pterygium (nail dystrophy)
- thrombocytopenia
- poikiloderma
- oral premalignant leukoplakia
27
Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita
28
Genoderm characterized by short telomeres
Dyskeratosis Congenita
29
clumped tonofiliments
EM finding seen in Dowling Maera Type EBS
30
```
grouped or herpetiform blisters at birth
hoarseness
PPK
mucosal membrane/laryngeal involvement
nail dystrophy
early death
```
Dowling-Maera EBS
31
Other name for EB Herpetiformis
Dowling-Maera
32
What finding to do you see on EM in Dowling Maera EBS?
clumped tonofilaments
33
What is the only EBS that is not AD transmitted?
EB with muscular dystrophy (AR) defect in plectin
34
Which two types of EBS heal WITHOUT scarring?
```
Localized EBS (Weber-Cockayne)
Generalized EBS (Koebner)
```
35
Where is the split in EBS?
BASAL LAYER
36
Where is the split in Junctional EB?
Lamina Lucida (BMZ)
37
Where is the split in Junctional EB?
Sublamina Densa (Dermal)
38
Type of EB with "exuberant granulation tissue"
Herlitz (EB Lethalis)
39
```
severe widespread bulla from birth
exuberant granulation tissue
enamel defects
absent nails
early death
```
Herlitz Junctional EB (EB Lethalis)
40
type of EB which heals with "atrophic scarring"
and
"scarring alopecia"
Non-Herliz Junctional EB (Generalized Atrophic Benign EB)
41
```
widespread bulla at birth
heals with atrophic scarring
scarring alopecia
nail dystrophy
improves with time
```
Non-Herlitz Junctional EB (Generalized Atrophic Benign EB)
42
What other physical exam finding does EB with pyloric atresia have?
Hydronephrosis
43
An EB patient gets hydronephrosis. What type EB does he have?
Junctional EB with pyloric atresia
44
An EB pt gets hydronephrosis - what is the gene defect?
alpha-6-beta-4 integrin. This is Junctional EB with pyloric atresia
45
Mode of inheritance for all of the Junctional EBs?
AR
46
Hallopeau-Siemens
Recessive Dystrophic EB
Autosomal Recessive
47
Hallopeau-Siemens inheritance pattern and gene defect:
AR and defect in Collagen Type VII
48
Dystrophic EB split
Dermal - sublamina densa (Collgen Type VII)
49
Name the two AR Dystrophic EB types
Hallopeau-Siemens
| Non-Hallopeau Siemens
50
Which dystrophic EB is due to a premature termination codon?
Hallopeau-Siemens
51
Which two types of EB are due to premature stop codons?
Hallopeau-Siemens &
| Herlitz (EB Lethalis)
52
```
severe widespread bulla at birth
heals with atrophic scarring on hands and feet
= "mitten deformity"
milia
nail dystrophy
mucosal strictures
oral, esophageal, cutaneous SCCs
```
Hallopeau-Siemens Dystrophic EB
53
mitten deformity
Hallopeau-Siemens Dystrophic EB
54
what type of cancers are kids with Hallopeau-Siemens disorder at risk for?
SCCs - Oral, esophageal, cutaneous SCCs
55
where are the skin changes in non-Hallopeau Siemens located?
Less severe form of HS Dystrophic EB with skin changes localized to acral bony prominences
56
Cockayne-Touraine
Dystrophic EB with bullae on extremities, heal with milea, atrophic scars/keloids, nail dystrophy
57
Pasini Varient
Dystrophic EB - like Cockayne-Touraine but with albo-papuloid lesions (white perifollicular papules which slowly enlarge)
58
gene defect in Pasini Variant of EB?
AD
| Type VII Collagen
59
"albo-papuloid lesions"
Pasini Variant of EB Dystrophic
60
white perifollicular papules on the hands, sacrum, which slowly enlarge. been there since young childhood
albopapuloid lesions in Pasini variant dystrophic EB (also called dominant dystrophic EB)
61
Ankyloblepharon
erosive scalp dermatitis
cleft lip
Hay Wells Syndrome (AEC)
one of the ectodermal dysplasias
mutation in p63
62
dermatofibrosis lenticularis disseminata
elastomas/connective tissue nevi found in Buscke-Ollendorf Syndrome
63
osteopokilosis
ectopic calcifications in the bone; found in Buscke-Ollendorf Syndrome
64
are the osteopoikilosis in Buscke-Ollendorf Syndrome prone to fracture?
NO they are not
65
multiple yellow papules on the trunk, buttocks, arms that look like elastomas
weird ectopic bone tissue that is not prone to fracture
Buscke-Ollendorf Syndrome
66
Xeroderma Pigmentosum has early onset of which skin malignancy?
ALL OF THEM! EVENLY!
67
caused by a defect in nucleotide excision repair pathway
XP
68
solar lentigo by age 2
XP
69
lentigos plus a bunch of ocular abnormalities
(photophobia, keratitis, corneal opacification, vascularization)
progressive deafness
XP
70
what type of deafness is associated with XP?
PROGRESSIVE deafness (not born that way)
71
What kind of neurologic abnormalities do pts with XP have?
trick question: NO neuorologic abnormalities
72
the type of XP that does have severe neurologic abnormalities
DeSanctis-Cacchione syndrome
73
DeSanctis-Cacchione syndrome
The type of XP that does have severe neurologic abnormalities, plus deafness and ataxia
74
Name the findings in Gorlin syndrome
multiple BCCs (duh)
odontogenic cysts
calcification of the falx cerebri
dental enamel pits
75
Sprengel deformity
Basal Cell Nevus Syndrome (Gorlin)
sprengle deformity is congenital elevation of the scapula
76
atrophoderma vermiculata
Rombo syndrome
77
```
atrophoderma vermiculata
BCC
loss of lateral eyebrows
peripheral venous dilitation
blue lips
acral erythema
```
Rombo syndrome
78
Multiple small eruptive KAs that appear like milia then regress
Gryzbowski KA syndrome
79
Sign of Leser Trelat
acute eruption of SKs signaling internal malignancy (most common GI adenocarcinoma, breast, or leukemia)
80
How much increase in SCC risk is there for immunosuppressed/transplant pts?
65%
65%SCC
10%BCC
4.5Melanoma
81
This lesion from birth may represent a mosaic form of Apert syndrome
Nevus Comedomicus
82
Nevus Comedomicus associated with what syndrome?
Apert syndrome
83
```
hypotrichosis
diffuse ppk
nail dystrophy -milky white
NORMAL teeth and sweating
MR, ocular abnormalities
```
Claustons' Hidrotic Ectodermal Dysplasia
| -defect in connexin 30 GJB6 (gap junction B6)
84
kid with tons of lentigos in the month
| intususseption
Peutz Jeghers syndrome
STK11
mucocutaneous lentigenes, intestinal polyposis, intussusception, various malignancies
85
multiple lentigenies
penis lentigos
lipomas
hemangiomas
Bannayan-Riley-Ruvalcaba Syndrome
| PTEN
86
Brooke-Spiegler
Trichoeps + cylindromas
87
Brooke-Fordyce
AD Multiple Trichoepitheliomas
88
Rombo syndrome
```
Trichoeps
BCC
milia
atrophoderma
vasodilation with cyanosis
```
89
Birt-Hogg-Dube syndrome systemic symptoms
spontaneous pnuemothorax
renal oncocytomas
chromophone RCC
90
person with multiple fibrofolliculomas, trichodiscs, skin tags. What else should you order for them?
```
Chest XRAY (spontaneous pneumothorax)
Abdominal CT( check for renal oncocytomas, chromophobe RCC)
```
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)
121
Test for X-linked ichthyosis?
Serum lipoprotein electrophoresis (detects accumulation of steroid sulfatase)
122
What is the difference in the distribution of the involvement of X-linked ichtyosis and lamellar ichtyosis?
X-linked is extensor involved and spares the flexures, vs all the other ichtyosis involve the flextures
123
Which is the o KU ichtyosis that spares the flexures?
X-linked ichtyosis
124
"Corrugated cardboard"
Epidermolytic Hyperkeratosis (EHK)
125
What part of the body is spared in X-Linked ichthyosis?
Palms, soles, face
126
Which are the only two ichthyosis that do not have PPK?
X-linked Ichthyosis and Ichthyosis Bullosa of Siemens
127
Which Ichthyosis presents with mild erythroderma and blistering
Ichthyosis bullosa of Siemens
128
Comma shaped corneal opacifications
X-linked Ichthyosis
129
Periodical "glistening" white dots in occular fundus
Sjogren-Larson Syndrome. "Snowy dots" , "jog" with a spastic gait
130
Ichytosis with spastic gait
Sjogren Larson
131
Unilateral ichthyotic erythroderma, ipsilateral alopecia, limb defects
CHILD syndrome
132
Stipples epiphyses
CHILD syndrome. Also Condradi-Hunermann-Happle syndrome
133
New AR form of EB
Dystonan. (BPAG)
134
Three syndromes associated with milea
Oro-facial-digital syndrome, Rombo, Basex
Goblins, brooke-Speigler
135
Genoderm resulting from defect in:
| Enzyme 3b-hydroxysteroid-dehydrogenase
CHILD syndrome
136
Which genoderm has stippled epiphysis in early infancy but resolve during childhood
CHILD
137
Besides CHILD syndrome, what other genoderm has stippled epiphysis
Condrodysplasia Punctata
138
Ipsilateral alopecia, erythroderma, organ aplasia, skeletal defects, stippled epiphysis
CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
139
```
Symmetric erythematous hyperkeratosis plaques on knees, elbows, and face at birth
PPK
Congenital sensorineural deafness
Vascularizing keratitis
Infections
SCC
```
KID syndrome
140
What kind of deafness is associated with KID syndrome
Congenital sensorineural deafness.
141
```
Mild ichthyosis
Cerebellar ataxia
Peripheral neuropathy
Retinitis pigmentosa
Deafness
```
Refsum Disease
142
Salt and pepper retinitis pigmentosa
Refsum
143
Name some findings of Refsum disease
```
Retinitis pigmentosa (salt and pepper)
Deafness
Ichthyosis
Peripheral neuropathies
Ataxia
```
144
In addition to Ataxia-Telangiectasia, name another genoderm which causes cerebellar ataxia?
Refsum Disease
145
Genoderm caused by defect in Peronist all phytanolyl-CoA hydroxylase
Refsum
146
What substance is accumulated in Refsum?
Phytanic acid
147
Treatment for Refsum?
Dietary restriction of phytanic acid
148
What are the verrucous papules on the back of the hands in Dariers called?
Acrokeratosis verruciformis of Hopf
149
Acrokeratosis verruciformis of Hopf
Verrucous hyperkeratotic papules on dorsal hands in Dariers disease
150
Nail findings in Darier
Red and white alternating longitudinal bands
V shaped nicks at distal plate
Subungal hyperkeratosis
151
Oral findings in Darier
Cobblestoning of the oral and anogenital mucosa
152
```
Atrophoderma vermiculata
BCC
Milia
Hypotrichosis
Trichoeps
Vasodilation with cyanosis
```
Rombo
153
```
"String of pearls" over eyelids
Hoarse voice
Bean-shaped temporal/hippocampal calcifications
Large wooden tongue
Waxy yellow papules of the face
```
Lipoid Proteinosis
| *ECM-1 gene
154
ECM-1 gene
Lipoid Proteinosis (ECM-1 gene also in lichen sclerosis)
155
"String of pearls" around eyelid
Lipoid proteinosis
156
Bean-shaped temporal calcification
Lipoid Proteinosis
157
Hippocampal calcifications with seizures
Lipoid proteinosis
158
Name the skin findings in Lipoid Proteinosis
Waxy yellow papules of the face
| String of pearls on the eyelids
159
Recurrent Infections
Thrombocytopenia
Eczema
Wiskott-Aldrich-Syndrome
(Immunodeficiency with Thrombocytopenia)
*butler with an askott without enough plates)
160
What two diseases have retinitis pigmentosa? (Salt and pepper)
Cockayne and Refsum
161
Immune deficiency
GI adenocarcinoma
Defect in RecQ
Bloom syndrome
162
What immune deficiency does Bloom have?
IgM, IgA. *like MA mas boy
163
What type of cancer does Blood syndrome get?
GI adenocarcinoma
164
Increased risk of Osteosarcoma
Rothmund-Thompson. (Rotheosarcoma)
165
Hypoplastic thumbs
Rothmund-Thompson
166
Broad thumbs
Rubinstein-Tayabi
167
```
Photodistributed erythema which ends up as poikiloderma
Hypoplastic thumbs and radia-ulna
Osteosarcoma
Premalignant acral keratosis
Recql4
```
Rothmund-Thompson
168
Inheritance pattern of Dyskeratosis Congenita
XLR
169
Severe and frequent sinopulminary infections
Erythematous cheeks
Ataxia
*WHAT cancer to watch out for?
Breast cancer!!!
170
What cancer is increased in Ataxia Telangiectasia?
Breast Cancer
171
Comma shaped corneal opacities
X-Linked ichthyosis
172
Periofovial glistening dots
Sjogren-Larson
173
Ichthyosis with spastic ditetrplegia
Sjogren Larson
174
Gene defect in Conrad-Hunermann-Happle Syndrome
```
EBP gene (enamel binding protein)
*Conrad has pearly white teeth (enamel)
```
175
```
Ichthyosis replaced with ice-pick scars, follicular atrophoderma
Stippled epiphysis
Cataracts
Deafness
Scarring alopecia
Frontal bossing flat nasal bridge
```
Conrad-Hunermann-Happle Syndrome (XLD Chondrodysplasia)
176
What is the gene mutation in School-Shultz-Passarge?
WNT-1
*went shopping
177
Unna Thost PPK
Mutation in K1 (unna*)
Unna thost is non-Epidermolytic PPK
-PPK with erythematous border,no transgradiens, pitted keratolysis, secondary tinea
178
Vorner Syndrome
Epidermolytic PPK
Mutation in K1 or K9
*similar to Unna Thost but has EHK on histology
179
Mal de Maleda
SLURP
*Transgredients - involves hands feet, elbows, knees
Maloder and secondary infections
Perioral erythema
180
Gene defect in both Lamellar Ichthyosis and CIE (Congenital Ichthyosiform Erythroderma)
TGM-1
And then in Lamellar there is also ABCCA, and in CIE there is also ELOX
181
Cowdens + brain tumor
Lhermitte-Duclos
182
What is sipple syndrome?
MEN2a
183
What cutaneous finding in sipple syndrome
Amyloidosis
184
What is Wermer syndrome
MEN1a
185
What is the side effect from Selsun Blue shampoo called?
Xanthotrichia (yellow hair)
186
Two syndromes with follicular atrophoderma:
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
Multiple BCCs
Hypotrichosis
Hypohidrosis
Follicular atrophoderma (dorsal hands and feet)
Bazex Syndrome
| *XLD
188
Inheritance pattern of Conradi-Hunermann-Happle
XLD
189
CHIRPE
Gardner syndrome (congenital hypertrophy of the retinal pigment epithelium)
190
What type of cancer (besides GI) are patients with Gardner syndrome
Papillary thyroid cancer
Hepatoblastoma
Adrenal adenoma
191
Supranumerary teeth
Gardners
192
Two syndromes with defect in Recql2
Bloom syndrome
| Werner (adult progeria)
193
What do patients with Progeria die from?
Cardiovascular complications
194
"Nuclear" blebbing
Progeria
195
Abnormal protein lamin A causes which genoderm?
Progeria
196
Another name for childhood onset Progeria?
Hutchinson-Gilford Syndrome
197
Hutchison Gilford Syndrome
Progeria
198
Another name for adult progeria
Werner Syndrome
199
Retained primary teeth
Hyper IgE (Jobs Syndrome)
200
Mutation in JOBs syndrome
AD form - STAT3 mutation
AR form - TYK2
201
```
Cold abscesses
Papulopustular eczema
Coarse facies
Retained primary teeth
Brittle bones
```
Hyper IgE syndrome (Jobs)
202
Gene defect in Chronic Granulomatous Disease
CYBB (cytochrome B subunit) recurrent staph infections
203
CYBB gene in Chronic Granulomatous disease encodes what protein
NADPH (inhibits the respiratory burst so cant defend from staph infections)
204
What is the inheritance pattern for chronic granulomatous disease
XLR
205
Thrombocytopenia
Eczema
Recurrent bacterial infections
Wiskott-Aldrich Syndrome
206
What type of malignancy does Wiskott-Aldrich Syndrome get?
NHL in 20% of people
207
What antibodies are low in Wiskott Aldrich?
Low IgM
208
Dystopia canthorum
Wardenburg (especially type I)
209
Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis
Waardenburg (Type I) - also obvious see a white forelock
210
Waardenburg type one gene defect
PAX3
*PAX MIT(tens) PAX SOx
211
Which two types of Waardenburg have deafness?
Type II and IV (MITF, and SOX, respectively)
*stuff socks/mittens in your ears
212
Which type of Waardenburg associated with Hirschsprung disease
Type IV (SOX mutation)
213
Waardenburg with upper limb abnormalities
Type III
214
Aplasia cutis associated with what genoderm
Dominant Dystrophic EB (Bart Syndrome)
215
Dystopia canthorum
Wardenburg (especially type I)
216
Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis
Waardenburg (Type I) - also obvious see a white forelock
217
Waardenburg type one gene defect
PAX3
*PAX MIT(tens) PAX SOx
218
Which two types of Waardenburg have deafness?
Type II and IV (MITF, and SOX, respectively)
*stuff socks/mittens in your ears
219
Which type of Waardenburg associated with Hirschsprung disease
Type IV (SOX mutation)
220
Waardenburg with upper limb abnormalities
Type III
221
Gene mutation in Pachyonychia type I
K6a/16
222
Gene mutation in Pachyonychia Type II
K6b/17
223
Jadassohn-Lewandowsky
Pachyonichia Type I (K6a/K16)
224
Jackson-Lawler
Pachyonychia Type II
225
Dystrophic nails, palmoplantar keratoderma, oral leukokeratosis (benign)
Pachyonychia Congenita Type I (Jadassohn-Lewandowsky)
226
Name the findings of Pachyonychia Congenita Type I
Jadassohn-Lewandowsky (K6a/K16)
PPK
Nail dystrophy
Oral leukokeratosis
227
```
Dystrophic Nails
PPK
Steatocystoma
Epidermal cysts
Natal Teeth
```
Pachyonychia Congenita Type II (Jackson-Lawler)
228
Name the findings of Pachyonychia Congenita Type II
```
Jackson-Lawler (Type II)
PPK
Nails
Steatocystoma multiplex
Natal teeth
Epidermal cysts
```
229
Natal teeth
Pachyonychia Congenita Type II
230
Steatocystomas in a genoderm
Pachyonychia Congenita Type II
231
Leiners disease
Chronic seb derm and infections that progress into erythroderma
-defect in C5
232
Chronic seb derm and infections that progress into erythroderma
Defect in C5
Leiners disease
233
Menkes disease is caused by deficiency in what cellular product
Defect in a copper transporter
234
What vascular anomaly is found in Menkes
Tortuous arteries
235
Sparse hair, Pear-shaped nose and cone-shaped epiphyses
Trichorhinophalangeal Syndrome
236
Beaded hair with elliptical nodes along the shaft + KP
Monilethrix, due to defect in hHb1, hHb2
237
Pili trianguli et canaliculi, spun glass hair
Uncombable hair syndrome
238
Hair finding in Uncombable hair syndrome
Pili trianguli et canaliculi "spun glass hair"
239
Fissured tongue, facial palsy, granulomatous cheilitis
Melkersson-Rosenthal syndrome
240
Helical depression of the ear
Linear crease in the ear
Macroglossia
Wilms tumor
Beckwith-Weidman syndrome
241
Name some of the findings of Beckwith-Weidham syndrome
Linear crease in the ear
Helical depressions
Macroglossia
Wilms tumor
242
Name the tumor associated with Beckwith-Weidham syndrome
Wilms tumor
243
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
Fabry disease (defect in alpha-galactadose resulting in the accumulation of glycosphingolipids)
244
What is usually the first presenting symptom in Fabrys?
Burning pain of the hands and feet
245
Keratitis
Icthyosis
Deafness
KID syndrome! Defect in GJB2 (encoded connexin 26)
246
```
Glomerulonephritis
Posterior iliac horns
Hypoplastic patella
Triangular lunulae
Thickened scapula
Radial head subluxation
```
Nail Patella syndrome
247
Name the findings in Nail Patella syndrome
```
P-posterior iliac horns
A-Absent patella
T-thickened scapula
E- eye-Lester iris
L-lunulae, triangular
L - gLomerulonephritis
```
248
Granular cell tumor is associated with which Genoderm?
Noonan Syndrome
249
XLR mutation of SCID
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
Defect in adenosine deaminase ADA
AR form of SCID
251
Which genoderm has an increased risk of DFSP?
SCID
252
Gene defect in congenital contractural arachnodactyly
Fibrillin 2
*can also be seen in Marfans. This condition has *Crumpled ears, long limbs, and arachnodactyly
253
What type of neuro cancer do you get with Basal Cell Nevus syndrome?
Medullablastoma
254
What solid organ tumor do patient's with BCNS get?
Ovarian fibroma
255
Fibrillin 1
Fibrillin 2
Fibulin 5
Fibrillin 1 is Marfans
Fibrillin 2 is congenital contractural arachnodactyly
Fibulin 5 is Cutis Laxa
256
Name all of the XLD genoderms
BIG ChOMP
```
Bazex
Incontinentia Pigmenti
Goltz
CHILD
H
Oro-facial Digital Syndrome
MIDAS syndrome
P Chondrodysplasia Punctata
```
257
Name the XLR genoderms
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
```
