Conditions / Skin
congenital hypotrichosis with juvenile macular dystrophy
info · Skin
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
Signs and symptoms
- Subretinal deposits
- Pallor
- Sparse hair
- Epidermoid cyst
- Reduced visual acuity
- Macular atrophy
- Follicular hyperkeratosis
- Absent sebaceous glands
- Macular hyperpigmentation
- Macular degeneration
Also known as: HJMD; hypotrichosis with cone-rod dystrophy