mosaic disease ch61

Question 1

Incontinentia Pigmenti

Answer 1

X linked mosaicism, lethal antenatally in males, clinically: 4 stages of skin findings along ***blaschko’s lines (e.g. inflammatory/vesicular, verrucous, hyperpigmented, hypopigmented/atrophic). Defect in NEMO gene. Tx: long term dental and eye care

Question 2

Goltz syndrome

Answer 2

X linked mosaicism, lethal antenatally in males, Defect in PORCN gene, clinically: fat herniation, dermal atrophy along ***blaschko’s lines, hypopigmentation & hyperpigmentation, raspberry-like papillomas in perioral and anogenital regions (may be confused with warts), telangiectasia, ectrodactyly (e.g. lobster claw hands), osteopathia striata, hypodontia, ocular defects. Tx: largely supportive

Question 3

MIDAS syndrome

Answer 3

X linked mosaicism, defect in HCCS gene; lethal antenatally in males, clinically: microphthalmia, dermal aplasia, +/- sclerocornea, +/- cardiac arrhythmias.

Question 4

Oral-facial-digital syndrome type 1

Answer 4

defect in OFD1 gene, clinically: cleft lip/palate, lobulations/hamartomas of the tongue, hypertrophic oral frenula, malformation of the digits, intellectual disability, patchy alopecia

Question 5

Menkes disease

Answer 5

defect in copper metabolism. Clinically: patchy pili torti and hypopigmentation along blaschko’s lines

Question 6

Epidermal nevus syndrome

Answer 6

term encompasses a heterogenous group of disorders with possible systemic abnormalities affecting the skeleton, eyes, CNS. Tx: supportive with referral to neuro, opthalmo, orthopedic. Mutations tend to be in FGFR3 and PTEN

Question 7

PROTEUS SYNDROME

Answer 7

defect in AKT1 gene, characterized by asymmetric overgrowth of a variety of tissues (e.g. large limbs), increased risk of DVT/PE. Tx: surgery, selective embolization

Question 8

McCune-Albright Syndrome

Answer 8

GNAS gene defect, clinically: cafe au lait spots, bone defects and/or endocrine hyperfunction