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genoderm, ped > ctd > Flashcards

ctd Flashcards

1
Q

• AR/AD/X-Recessive (lysyl oxidase, allelic to EDS9 and Menkes), acquired (Marshall syndrome).

A

Cutis Laxa

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2
Q

• Loose skin, GI and GU diverticuli, vascular anomalies, hernias
• Lax joints
• Pulmonary emphysema
PXE

A

Cutis Laxa

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3
Q
  • FBLN5 gene defect in AR

* Elastin in AD

A

Cutis Laxa

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4
Q
  • AD/AR

* ABCC6

A

PXE

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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

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6
Q
  • Angioid streaks, blue sclera

* CAD

A

EPS

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7
Q

– Blue sclera
– Fractures, joints and teeth
– Bruising
– Hearing loss

A

• Type I—mild/moderate

Osteogenesis Imperfecta

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8
Q
  • AD for all

* Col1α1 defect

A

Osteogenesis Imperfecta

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9
Q

• Easy bruising, blue sclera, fractures, MVP

A

Osteogenesis Imperfecta

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10
Q

– Blue sclera
– Short trunk
– Fractures in utero

A

• Type II—severe Osteogenesis Imperfecta

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11
Q

– Teeth
– Limb shortening
– Fracture in utero

A

• Type III Osteogenesis Imperfecta

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12
Q

– Teeth in subtype B not A
– Mild without bleeding or hearing loss
– Fractures during infancy

A

• Type IV Osteogenesis Imperfecta

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13
Q
  • XLD

* Linear, atrophic, hyperpigmented lesions with fat herniations

A

Focal Dermal Hypoplasia (Goltz)

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14
Q

• Nevus flammeus, epidermal nevi, mongolian spots

A

Phakomatosis Pigmentovascularis

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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

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16
Q
  • Sporadic
  • Capillary malformations over spine
  • CNS defects
A

Cobb Syndrome

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17
Q
  • Sporadic

* PTEN

A

Proteus

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18
Q
  • CT nevi, malformations, bony lesions
  • Enchondromas
  • Disproportionate growth
  • May be disfiguring like the “Elephant man”
A

Proteus

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19
Q
  • AD

* LEMD

A

Buchke-Ollendorf

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20
Q
  • Collagenomas (dermatofibrosis lenticularis disseminata)

* Osteopoikilosis

A

Buchke-Ollendorf

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21
Q
  • Oral and skin papillomas
  • Alopecia
  • Eye and teeth defects
  • Osteopathia striata
  • Genitalia and kidney defects
A

Focal Dermal Hypoplasia (Goltz)

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22
Q

• Decreased B cells
• RA-like disease
• Infections
– Echovirus and DM-like syndrome

A

XL Agammaglobulinemia (Bruton’s)

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23
Q
  • Seb derm
  • Diarrhea
  • Failure to thrive
  • Gram—and candidal infections
A

Lenier’s

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24
Q

• Il-2R gamma or Adenosine deaminase deficiency (ADA)

A

SCID

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25
Q
  • Seborrheic dermatitis
  • Candida
  • Deficient thymus (shadow on X-ray)
A

SCID

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26
Q 
• AD
Severe AD
• Abscesses
• Coarse face
• Retention of primary teeth (double row)
• Skeletal anomalies
• Elevated IgE with eosinophils
A

Hyper IgE Syndrome

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27
Q
  • Exfoliative dermatitis
  • Thrombocytopenia
  • Infection
  • Leukemia, lymphoma
  • Decreased IgM/G
  • Increased IgA, E, D
A

Wiscott-Aldrich

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28
Q
  • XLR

* WAS gene

A

Wiscott-Aldrich

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29
Q
  • B2-integrin deficiency

* Delayed umbilical separation

A

LAD-1

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30
Q
  • XLR

* Gp91phox defect

A

CGD

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31
Q

• Sterile abscesses and eczema

A

Hyper IgE (Job Syndrome)

32
Q
  • LYST gene

* Staph infections, gray hair and lymphoma

A

Chediak-Higashi

33
Q
  • Impaired PMN NADPH oxidase system

* Mild dermatitis, LAD, infections

A

CGD

34
Q

β-Glucocerebrosidase defect

Hyperpigmention, multi-organ infiltration

A

Gaucher

35
Q

α-Galactosidase defect

Angiokeratomas, cardiovascular ds, neurological deterioration

A

Fabry

36
Q

α-L-Fucosidase defect

Angiokeratomas, coarse features, neurological deterioration

A

Fucosidosis

37
Q

Tryptophan defect

Photosensitivity, ataxia, psychosis, atrophic glossitis

A

Hartnup

38
Q

Prolidase defect
Telangiectases, crusted dermatitis, severe lower leg ulceration. Increased
infections/SLE. MR

A

Prolidase deficiency

39
Q

Phenylalanine synthetase defect

Fair complexion. Neurologic deterioration if untreated. Occasional sclerodermatous skin changes

A

Phenylketonuria

40
Q

Homogentisic acid oxidase defect

Blue-grey pigmentation of face, groin, axillae. Blue sclera. Arthropathy

A

Alkaptonuria

41
Q

ATP7B gene defect
Accumulation of copper: blue lunulae, copper-colored ring around cornea (Kayser-Fleischer ring), neurologic sequelae, liver failure

A

Wilson (Hepatolenticular Degeneration)

42
Q

Tyrosine aminotransferase defect

Painful PPK, keratitis, MR

A

Tyrosinemia II

43
Q

α-L-iduronidase defect

Dermal melanocytosis. Coarse facies, HSM, corneal clouding, dysostosis multiplex, and MR

A

Hurler

44
Q

Iduronidate sulfatase defect

Pebbly skin lesions on scapula and hypertrichosis. Less severe than Hurler

A

Hunter

45
Q

HGPRT defect

Self-mutilation, MR, choreoathetosis

A

Lesch-Nyhan

46
Q

ECM1 gene defect

A

Lipoid Proteinosis of
Urbach-Wiethe
(Hyalinosis Cutis et
Mucosae)

47
Q

Hyaline papules along eyelid margin (“string of pearls”), acral and axillae, early hoarseness, blisters in infancy. Drusen-like lesions on fundus

A

Lipoid Proteinosis of
Urbach-Wiethe
(Hyalinosis Cutis et
Mucosae)

48
Q

• VHL gene

– Tumor suppressor

A

Voh-Hippel-Lindau

49
Q

• Endoglin

– Receptor for TGF beta

A

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)

50
Q

• Telangiectasia, aneurysms and AVMs

A

Hereditary Hemorrhagic Telangiectasia

51
Q
  • Renal cell CA
  • Pheochromocytoma
  • Retinal hemangioblastoma
A

Voh-Hippel-Lindau

52
Q
  • AD

* B-catenin def

A

Pilomatricoma

53
Q

• Angiomata in CNS
• Ocular
– Glaucoma, retinal detachment and blindness

A

Sturge-Weber

54
Q

• Sturge-Weber V1 distribution
UL ___risk of syndrome
• V1 BL risk

A

10%

40%

55
Q
  • MR, broad thumbs and toes, facial abnormalities

* Metabolic

A

Rubenstein-Taybi Syndrome

56
Q

• CREB-binding protein def

A

Rubenstein-Taybi Syndrome

57
Q
  • Multiple tumors

* Myotonic dystrophy

A

Pilomatricoma

58
Q
  • AKA NAME and LAMB

* Type 1 PRKAR1A

A

Carney

59
Q
  • AD

* CYLD def

A

Cylindromatosis

60
Q

• Turban tumors on scalp and face

A

Cylindromatosis

61
Q
  • Melanocytic macules on lips and mucosa
  • Polyps in GI tract
  • AdenoCA of GI, lung, thyroid and GU
A

Peutz-Jeghers Syndrome

62
Q
  • AD

* STK11 def

A

Peutz-Jeghers Syndrome

63
Q
  • Lentigines, EKG, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness
  • Pectus
A

LEOPARD

64
Q
  • AD

* PTPN 11 (allelic to Noonan)

A

LEOPARD

65
Q
  • Lentigines
  • Red hair
  • Blue nevi
  • Atrial myxomas
  • Pituitary adenoma, Sertoli cell tumors, pheochromocytoma
A

Carney

66
Q
  • AD

* PTEN

A

Bannayan-Zonana

67
Q
  • Penile lentigines, lipoma, hemangiomas, CALMs, angiokeratomas
  • Lipid storage myopathy
A

Bannayan-Zonana

68
Q
  • AD

* MASH2 and MLH1 genes

A

Muir-Torre

69
Q
  • Sebaceous adenomas and other tumors, KAs, BCC
  • Tumors GI tract
  • Laryngeal and breast CA
A

Muir-Torre

70
Q
  • AD
  • TSC1 hamartin
  • TSC2 tuberin
A

Tuberous Sclerosis

71
Q

lymphangioleiomyomatosis

A

Tuberous Sclerosis

72
Q
  • AD

* PTCH

A

BCNS (Gorlin’s)

73
Q
  • Numerous BCC, palmar pits, odontogenic cysts of jaw
  • Medulloblastoma and meningiomas
  • Ovarian and cardiac fibroma
  • Musculoskeletal anomalies
A

BCNS (Gorlin’s)

74
Q
  • BCC
  • Trichoepitheliomas
  • Follicular atrophoderma
A

Rombo

75
Q
  • AD

* PTEN

A

Cowden’s

76
Q
  • Tricholemmomas, acral keratoses, lipomas, skin tags, oral papillomas
  • Hamartomas of breast, GU and thyroid
A

Cowden’s

genoderm, ped (8 decks)

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