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Dermatology > Genoderm > Flashcards

Genoderm Flashcards

1
Q

Other IP skin changes

A 
Patchy alopecia of vertex scalp
Atrophic changes of dorsal hands
Onychodystrophy
Subungual tumors with lytic bone lesions
Palmerplantar hyperhidrosis
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2
Q

MC IP extracutaneous

A

Teeth (90%) > bones (40%) > CNS (33%)

MC CNS are seizures
Defective neutrophil chemotaxis reported

Eye changes- cataracts, strabismus, retinal detachment, optic atrophy, blue sclera, exudative chorioretinitis

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3
Q

Mutations in k14 (NFJ)

A

Cause increased susceptibility to TNF alpha induced apoptosis

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4
Q

Hypo of ito

A

Trisomy 13 mosaicism found

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5
Q

Klinefelter

A

Leg ulcers
Thrombophlebitis
Hypercoaguability from increased plasminogen activator 1
Incr risk of CA - breast, hematologist, rhabdiblastoma, retinoblastoma

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6
Q

XXYY

A

Cutaneous Angie as, acrocyanosis, stasis

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7
Q

Turner

A 
Frontal alopecia
Pilo
Koilonychia
Incr risk of melanoma
Increases AA and halo nevi*
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8
Q

Noon an

A

PTPN11 encodes phosphatase SHP-2 in the RasMapk p’way

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9
Q

Cardiofaciocutaneous syndrome

A

Hair is MC derm finding
May see kiolonychia
Associated with KRAS, BRAF, MAP2K1/2

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10
Q

TS

A

Up to 50% spontaneous

Avoid xrt as tx for astrocytomas bc incr risk of glioblastoma

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11
Q

NF

A

Sacral hypertricosis, cutis vertices, macroglossa, nipple NFs in 90% of women

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12
Q

Type 3 and 4 NF

A

Resemble type 2 with NFs but greater risk of optic gliomas, neurilemmomas, and meningiomas

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13
Q

Heralds severe CNS inv in NF

A

Hypertelorism

50% of NF due or new mutations

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14
Q

Merlin in NF2

A

Protein links actin cytoskeleton to cell surface glycoproteins and functions as a negative growth regulator

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15
Q

Legius

A

Spred1

Have pigmentary changes but NO NFs

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16
Q

NF1 vs NF2 imaging

A

Image for signs and symptoms in 1 but 2 requires MRI

83% of NF2 with vision loss, 75% with hearing loss

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17
Q

Angora hair Nevus syndrome

A

Schauder

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18
Q

Telangectasias in AT

A

Face, helix, back of ear, roof of mouth, necklace area, flexures, dorsal hands and feet

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19
Q

AT cells

A

Sensitive to ionizing radiation (but not UV) and at the G1/S checkpoint

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20
Q

Diagnosis of AT

A

Elevated AFP and radio sensitivity of fibroblasts

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21
Q

Heterozygous K14

A

Blistering limited to hands and feet

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22
Q

Ectodermal dysplasia/skin fragility syndrome (Mcgrath)

A

Trauma induced blisters of pressure points
Reduced/small desmosomes in the lower epidermis
Plakophilin

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23
Q

Propylene glycol may cause what if given systemically in ichthyosis

A

Renal failure and cardiac toxicity

24
Q

EHK

A

Associated with vitamin d deficient rickets and dysplasia nevi

25
Q

EM of sjogren Larson

A

Prominent golgi and increased mitochondria numbers in keratinocytes

26
Q

Rud syndrome

A

Ichthyosis, hypogonadism, Acanthosis, retinitis pigmentosa

27
Q

Drug induced ichthyosis

A

Statins, nicotinic acid, triparanol, butyrophenones

28
Q

Porokeratosis of mibelli may appear (plaque type)

A

In chemotherapy, renal tx, PUVA, areas of chronic sun damage and chemical exposure to benzylhydrochlorothiazide

29
Q

Dariers frequently affect what site first

A

Behind ear

  • nose and esophageal inv seen
  • worse in summer
  • inhibition of serca impairs trafficking of desmoplakin to cell surface resulting in acantholysis
30
Q

Mutant specific small inhibitory mRNAs and hedgehog signaling may be important in expression of which disease

A

Pachyonychia congenita

31
Q

First finding in DKC

A

Nail changes

32
Q

Pulmonary complications of DKC

A

Pulmonary fibrosis and PJP

33
Q

Other DKC genes

A

NHP2, NOP10

34
Q

Costello associations

A

Ventricular dilation (40%), hydrocephalus, brain atrophy, chairs, syringomyelia

35
Q

CHIME

A

Colobomas, heart defects, ichthyosis, MR, ear defects

36
Q

Lelis syndrome

A

Form of ectodermal dysplasia with AN, PPK, hypotrichosis, hypohidrosis, nail dystrophy, early loss of adult teeth and MR

37
Q

Pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy, touraine-solente-gole syndrome)

A

Association with gynecomastia and osteoporosis

Acquired may occur in chronic pulmmonary, mediastianal and cardiac dz, chronic hypoxia, bronchogenic CA

38
Q

ACC association

A

Thyroid dz

39
Q

Hair collar sign

A

Commonly seen with membranous ACC

40
Q

Focal preauricular dermal dysplasia

A

Form of ACC not associated with extracutaneous

41
Q

SCALP syndrome

A

Nevus sebaceous syndrome with CNS malformations, ACC, Limbaugh dermoid, giant CMN with dermal melanosis

42
Q

Porcn

A

Regulator of wnt signaling

43
Q

XP group without neuro

A

C

Ocular finding in 40% of XP pts- ectopion, corneal opacity, neoplasms

44
Q

Topical application of recombinant liposomal encapsulated T4 endonuclease

A

Repairs cyclobutane pyramiding dimensions in XP

45
Q

Cockayne vs XP

A

No freckling, no skin cancer incr risk, dwarfism

46
Q

MC finding in TTD

A

Intellectual impairment in 86%

47
Q

Popliteal pterygium syndrome

A

Pterygia or skin folds may extend from the thigh down to the heel, prevents extension or rotation of legs
Allelic with van der woude

48
Q

Van der woude syndrome

A

Hypodontia
Lip pits
Cleft palate
IRF6 gene

49
Q

Lower lip pits

A

Van der woude, popliteal pterygium syndrome, orofacial digital,

50
Q

Generalized hair follicle hamartoma syndrome

A

Generalized trichoeps, alopecia, myesthenia gravis

51
Q

Incr risk of what malignancies in cartilage hair hypoplasia

A

NHL, SCC, BCC

52
Q

ATrichia with papules

A

Associated with vitamin d resistant rickets

Cyst epithelium demonstrates K15 and K17 (suggests derived from follicular bulge)

53
Q

Atrophoderma vermiculata associations

A

Congenital heart block and other cardiac, NF, oligophrenia, Down syndrome

54
Q

Keratosis follicularis spinulosa decalvans (Siemens 1 syndrome)

A

AKN, tufted hair folliculitis, aminoaciduria

55
Q

H syndrome pathology

A

Acanthosis with dermal and subcutaneous infiltration of histiocytes, plasma cells and mast cells

Dermatology (28 decks)

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