Genodermatoses

Question 1

What is genetic variant that causes Turners syndrome? (1)

What are the skin findings associated with Turners syndrome? (5)

Other exam findings?

Answer 1

45, XO

Congenital lymphedema (resolves by age 2)

Low posterior hairline

Numerous melanocytic naevi

Small hyperconvex nails

Tendency to keloid

Other:
- short stature
- webbed neck
- wide spaced nipples
- absence of sexual development
- CVS defects
- renal malformations
- sensorineural hearing loss
- hypothyroidism

Question 2

What is genetic variant that causes Klinefelter syndrome? (1)

What are the skin findings associated with Klinefelters syndrome? (2)

Other exam findings?

Answer 2

47, XXY

Varicose veins

Leg ulcers

Other
- tall stature
- gynaeclomastia
- small testes
- infertility

Question 3

What is genetic variant that causes downs syndrome? (1)

What are the skin findings associated with down syndrome? (11)

Answer 3

Extra copy of chromosome 21

Single palmar crease

Protruding scrotal tongue

Chelitis

Multiple syringomas

Alopecia areata

Ichthyosiform hyperkeratosis

KP

milia like calcinosis cutis

elasosis perforans serpiginosa

Collagenomas

Cutis mamorata

Question 4

What is phylloid hypomelanosis?

Answer 4

Mosaic trisomy 13 varant

Round, oval or oblong hypopigmented macules resembling floral ornaments

Question 5

What is Pallister- Killan syndrome?

Answer 5

Mosaic tetrasomy 12p

Hypopigmented and/ or hyperpigmented streaks; fine, sparse hair during infancy