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