Focal dermal hypoplasia in Child
Later, hypo- and hyperpigmentation with herniation of the subcutaneous fat occurs. Fleshy and vascular papillomas can develop on mucosal, perioral, perigenital, and intertriginous areas. Nail dystrophy, sparse hair, and intellectual disability can also be present. The characteristic bony finding on x-ray is vertical striations in the metaphysis of long bones called osteopathia striata. Osteopathia striata is generally found in older patients.
Patients with FDH generally have a normal lifespan but may be handicapped by skeletal deformities. The skin, eye, teeth, central nervous system, and skeletal anomalies can have other psychosocial consequences.
Q82.8 – Other specified congenital malformations of skin
205573006 – Focal dermal hypoplasia
Differential Diagnosis & Pitfalls