Focal Dermal Hypoplasia - Key Clinical Features

Skin

  • Linear streaks of dermal hypoplasia occurring along Blaschko's lines
  • subcutaneous fat herniation
  • hypo- and/or hyperpigmentation

Hair

  • Sparse
  • wiry
  • scarring alopecia

Teeth

  • hypodontia
  • conical shaped teeth
  • enamel defects

Bones

  • osteopathica striata
  • short stature
  • bony tumours
  • ectrodactyly/syndactyly

Nails

  • dystrophy

Gastro-intestinal tract

  • omphalocele
  • hernia

Ears

  • protrusion
  • asymmetry

Eyes

  • colobomata
  • glaucoma