1
Q
• AR/AD/X-Recessive (lysyl oxidase, allelic to EDS9 and Menkes), acquired (Marshall syndrome).
A
Cutis Laxa
2
Q
• Loose skin, GI and GU diverticuli, vascular anomalies, hernias
• Lax joints
• Pulmonary emphysema
PXE
A
Cutis Laxa
3
Q
- FBLN5 gene defect in AR
* Elastin in AD
A
Cutis Laxa
4
Q
- AD/AR
* ABCC6
A
PXE
5
Q
- Yellowish papules on lips, flexures, periumbilical region
- Peau d’orange
- Angioid streaks, claudication, GI hemorrhage, increased rate 1st trimester miscarriage, GU bleeds
- HTN from renal artery involvement
A
PXE
6
Q
- Angioid streaks, blue sclera
* CAD
A
EPS
7
Q
– Blue sclera
– Fractures, joints and teeth
– Bruising
– Hearing loss
A
• Type I—mild/moderate
Osteogenesis Imperfecta
8
Q
- AD for all
* Col1α1 defect
A
Osteogenesis Imperfecta
9
Q
• Easy bruising, blue sclera, fractures, MVP
A
Osteogenesis Imperfecta
10
Q
– Blue sclera
– Short trunk
– Fractures in utero
A
• Type II—severe Osteogenesis Imperfecta
11
Q
– Teeth
– Limb shortening
– Fracture in utero
A
• Type III Osteogenesis Imperfecta
12
Q
– Teeth in subtype B not A
– Mild without bleeding or hearing loss
– Fractures during infancy
A
• Type IV Osteogenesis Imperfecta
13
Q
- XLD
* Linear, atrophic, hyperpigmented lesions with fat herniations
A
Focal Dermal Hypoplasia (Goltz)
14
Q
• Nevus flammeus, epidermal nevi, mongolian spots
A
Phakomatosis Pigmentovascularis
15
Q
• Unknown cause – May be an angiogenic factor • Limb enlargement due to vascular and lymphatic malformations • Usually UL • Hypertrophy of underlying tissue
A
Klippel-Trenauney
16
Q
- Sporadic
- Capillary malformations over spine
- CNS defects
A
Cobb Syndrome
17
Q
- Sporadic
* PTEN
A
Proteus
18
Q
- CT nevi, malformations, bony lesions
- Enchondromas
- Disproportionate growth
- May be disfiguring like the “Elephant man”
A
Proteus
19
Q
- AD
* LEMD
A
Buchke-Ollendorf
20
Q
- Collagenomas (dermatofibrosis lenticularis disseminata)
* Osteopoikilosis
A
Buchke-Ollendorf
21
Q
- Oral and skin papillomas
- Alopecia
- Eye and teeth defects
- Osteopathia striata
- Genitalia and kidney defects
A
Focal Dermal Hypoplasia (Goltz)
22
Q
• Decreased B cells
• RA-like disease
• Infections
– Echovirus and DM-like syndrome
A
XL Agammaglobulinemia (Bruton’s)
23
Q
- Seb derm
- Diarrhea
- Failure to thrive
- Gram—and candidal infections
A
Lenier’s
24
Q
• Il-2R gamma or Adenosine deaminase deficiency (ADA)
A
SCID
25
* Seborrheic dermatitis
* Candida
* Deficient thymus (shadow on X-ray)
SCID
26
```
• AD
Severe AD
• Abscesses
• Coarse face
• Retention of primary teeth (double row)
• Skeletal anomalies
• Elevated IgE with eosinophils
```
Hyper IgE Syndrome
27
* Exfoliative dermatitis
* Thrombocytopenia
* Infection
* Leukemia, lymphoma
* Decreased IgM/G
* Increased IgA, E, D
Wiscott-Aldrich
28
* XLR
| * WAS gene
Wiscott-Aldrich
29
* B2-integrin deficiency
| * Delayed umbilical separation
LAD-1
30
* XLR
| * Gp91phox defect
CGD
31
• Sterile abscesses and eczema
Hyper IgE (Job Syndrome)
32
* LYST gene
| * Staph infections, gray hair and lymphoma
Chediak-Higashi
33
* Impaired PMN NADPH oxidase system
| * Mild dermatitis, LAD, infections
CGD
34
β-Glucocerebrosidase defect
| Hyperpigmention, multi-organ infiltration
Gaucher
35
α-Galactosidase defect
| Angiokeratomas, cardiovascular ds, neurological deterioration
Fabry
36
α-L-Fucosidase defect
| Angiokeratomas, coarse features, neurological deterioration
Fucosidosis
37
Tryptophan defect
| Photosensitivity, ataxia, psychosis, atrophic glossitis
Hartnup
38
Prolidase defect
Telangiectases, crusted dermatitis, severe lower leg ulceration. Increased
infections/SLE. MR
Prolidase deficiency
39
Phenylalanine synthetase defect
| Fair complexion. Neurologic deterioration if untreated. Occasional sclerodermatous skin changes
Phenylketonuria
40
Homogentisic acid oxidase defect
| Blue-grey pigmentation of face, groin, axillae. Blue sclera. Arthropathy
Alkaptonuria
41
ATP7B gene defect
Accumulation of copper: blue lunulae, copper-colored ring around cornea (Kayser-Fleischer ring), neurologic sequelae, liver failure
Wilson (Hepatolenticular Degeneration)
42
Tyrosine aminotransferase defect
| Painful PPK, keratitis, MR
Tyrosinemia II
43
α-L-iduronidase defect
| Dermal melanocytosis. Coarse facies, HSM, corneal clouding, dysostosis multiplex, and MR
Hurler
44
Iduronidate sulfatase defect
| Pebbly skin lesions on scapula and hypertrichosis. Less severe than Hurler
Hunter
45
HGPRT defect
| Self-mutilation, MR, choreoathetosis
Lesch-Nyhan
46
ECM1 gene defect
Lipoid Proteinosis of
Urbach-Wiethe
(Hyalinosis Cutis et
Mucosae)
47
Hyaline papules along eyelid margin (“string of pearls”), acral and axillae, early hoarseness, blisters in infancy. Drusen-like lesions on fundus
Lipoid Proteinosis of
Urbach-Wiethe
(Hyalinosis Cutis et
Mucosae)
48
• VHL gene
| – Tumor suppressor
Voh-Hippel-Lindau
49
• Endoglin
| – Receptor for TGF beta
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)
50
• Telangiectasia, aneurysms and AVMs
Hereditary Hemorrhagic Telangiectasia
51
* Renal cell CA
* Pheochromocytoma
* Retinal hemangioblastoma
Voh-Hippel-Lindau
52
* AD
| * B-catenin def
Pilomatricoma
53
• Angiomata in CNS
• Ocular
– Glaucoma, retinal detachment and blindness
Sturge-Weber
54
• Sturge-Weber V1 distribution
UL ___risk of syndrome
• V1 BL risk
10%
| 40%
55
* MR, broad thumbs and toes, facial abnormalities
| * Metabolic
Rubenstein-Taybi Syndrome
56
• CREB-binding protein def
Rubenstein-Taybi Syndrome
57
* Multiple tumors
| * Myotonic dystrophy
Pilomatricoma
58
* AKA NAME and LAMB
| * Type 1 PRKAR1A
Carney
59
* AD
| * CYLD def
Cylindromatosis
60
• Turban tumors on scalp and face
Cylindromatosis
61
* Melanocytic macules on lips and mucosa
* Polyps in GI tract
* AdenoCA of GI, lung, thyroid and GU
Peutz-Jeghers Syndrome
62
* AD
| * STK11 def
Peutz-Jeghers Syndrome
63
* Lentigines, EKG, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness
* Pectus
LEOPARD
64
* AD
| * PTPN 11 (allelic to Noonan)
LEOPARD
65
* Lentigines
* Red hair
* Blue nevi
* Atrial myxomas
* Pituitary adenoma, Sertoli cell tumors, pheochromocytoma
Carney
66
* AD
| * PTEN
Bannayan-Zonana
67
* Penile lentigines, lipoma, hemangiomas, CALMs, angiokeratomas
* Lipid storage myopathy
Bannayan-Zonana
68
* AD
| * MASH2 and MLH1 genes
Muir-Torre
69
* Sebaceous adenomas and other tumors, KAs, BCC
* Tumors GI tract
* Laryngeal and breast CA
Muir-Torre
70
* AD
* TSC1 hamartin
* TSC2 tuberin
Tuberous Sclerosis
71
lymphangioleiomyomatosis
Tuberous Sclerosis
72
* AD
| * PTCH
BCNS (Gorlin’s)
73
* Numerous BCC, palmar pits, odontogenic cysts of jaw
* Medulloblastoma and meningiomas
* Ovarian and cardiac fibroma
* Musculoskeletal anomalies
BCNS (Gorlin’s)
74
* BCC
* Trichoepitheliomas
* Follicular atrophoderma
Rombo
75
* AD
| * PTEN
Cowden’s
76
* Tricholemmomas, acral keratoses, lipomas, skin tags, oral papillomas
* Hamartomas of breast, GU and thyroid
Cowden’s
genoderm, ped
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Decks in class (8)
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