Genoderm

Question 1

Other IP skin changes

Answer 1

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

Question 2

MC IP extracutaneous

Answer 2

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

Question 3

Mutations in k14 (NFJ)

Answer 3

Cause increased susceptibility to TNF alpha induced apoptosis

Question 4

Hypo of ito

Answer 4

Trisomy 13 mosaicism found

Question 5

Klinefelter

Answer 5

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

Question 6

XXYY

Answer 6

Cutaneous Angie as, acrocyanosis, stasis

Question 7

Turner

Answer 7

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

Question 8

Noon an

Answer 8

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

Question 9

Cardiofaciocutaneous syndrome

Answer 9

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

Question 10

TS

Answer 10

Up to 50% spontaneous

Avoid xrt as tx for astrocytomas bc incr risk of glioblastoma

Question 11

NF

Answer 11

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

Question 12

Type 3 and 4 NF

Answer 12

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

Question 13

Heralds severe CNS inv in NF

Answer 13

Hypertelorism

50% of NF due or new mutations

Question 14

Merlin in NF2

Answer 14

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

Question 15

Legius

Answer 15

Spred1

Have pigmentary changes but NO NFs

Question 16

NF1 vs NF2 imaging

Answer 16

Image for signs and symptoms in 1 but 2 requires MRI

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

Question 17

Angora hair Nevus syndrome

Answer 17

Schauder

Question 18

Telangectasias in AT

Answer 18

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

Question 19

AT cells

Answer 19

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

Question 20

Diagnosis of AT

Answer 20

Elevated AFP and radio sensitivity of fibroblasts

Question 21

Heterozygous K14

Answer 21

Blistering limited to hands and feet

Question 22

Ectodermal dysplasia/skin fragility syndrome (Mcgrath)

Answer 22

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

Question 23

Propylene glycol may cause what if given systemically in ichthyosis

Answer 23

Renal failure and cardiac toxicity

Question 24

EHK

Answer 24

Associated with vitamin d deficient rickets and dysplasia nevi

Question 25

EM of sjogren Larson

Answer 25

Prominent golgi and increased mitochondria numbers in keratinocytes

Question 26

Rud syndrome

Answer 26

Ichthyosis, hypogonadism, Acanthosis, retinitis pigmentosa

Question 27

Drug induced ichthyosis

Answer 27

Statins, nicotinic acid, triparanol, butyrophenones

Question 28

Porokeratosis of mibelli may appear (plaque type)

Answer 28

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

Question 29

Dariers frequently affect what site first

Answer 29

Behind ear * nose and esophageal inv seen * worse in summer * inhibition of serca impairs trafficking of desmoplakin to cell surface resulting in acantholysis

Question 30

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

Answer 30

Pachyonychia congenita

Question 31

First finding in DKC

Answer 31

Nail changes

Question 32

Pulmonary complications of DKC

Answer 32

Pulmonary fibrosis and PJP

Question 33

Other DKC genes

Answer 33

NHP2, NOP10

Question 34

Costello associations

Answer 34

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

Question 35

CHIME

Answer 35

Colobomas, heart defects, ichthyosis, MR, ear defects

Question 36

Lelis syndrome

Answer 36

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

Question 37

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

Answer 37

Association with gynecomastia and osteoporosis | Acquired may occur in chronic pulmmonary, mediastianal and cardiac dz, chronic hypoxia, bronchogenic CA

Question 38

ACC association

Answer 38

Thyroid dz

Question 39

Hair collar sign

Answer 39

Commonly seen with membranous ACC

Question 40

Focal preauricular dermal dysplasia

Answer 40

Form of ACC not associated with extracutaneous

Question 41

SCALP syndrome

Answer 41

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

Question 42

Porcn

Answer 42

Regulator of wnt signaling

Question 43

XP group without neuro

Answer 43

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

Question 44

Topical application of recombinant liposomal encapsulated T4 endonuclease

Answer 44

Repairs cyclobutane pyramiding dimensions in XP

Question 45

Cockayne vs XP

Answer 45

No freckling, no skin cancer incr risk, dwarfism

Question 46

MC finding in TTD

Answer 46

Intellectual impairment in 86%

Question 47

Popliteal pterygium syndrome

Answer 47

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

Question 48

Van der woude syndrome

Answer 48

Hypodontia Lip pits Cleft palate IRF6 gene

Question 49

Lower lip pits

Answer 49

Van der woude, popliteal pterygium syndrome, orofacial digital,

Question 50

Generalized hair follicle hamartoma syndrome

Answer 50

Generalized trichoeps, alopecia, myesthenia gravis

Question 51

Incr risk of what malignancies in cartilage hair hypoplasia

Answer 51

NHL, SCC, BCC

Question 52

ATrichia with papules

Answer 52

Associated with vitamin d resistant rickets | Cyst epithelium demonstrates K15 and K17 (suggests derived from follicular bulge)

Question 53

Atrophoderma vermiculata associations

Answer 53

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

Question 54

Keratosis follicularis spinulosa decalvans (Siemens 1 syndrome)

Answer 54

AKN, tufted hair folliculitis, aminoaciduria

Question 55

H syndrome pathology

Answer 55

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