What is Focal Dermal Hypoplasia

Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic disorder that primarily affects the skin, skeleton, eyes, and face. It is characterized by various abnormalities, including underdeveloped or missing patches of skin (hypoplasia), small and malformed fingers or toes, and distinctive facial features. FDH is caused by mutations in the PORCN gene, which plays a crucial role in embryonic development.

Individuals with FDH may experience a wide range of symptoms and severity, making each case unique. The condition predominantly affects females, although males can also be affected, albeit with more severe symptoms. Some common features include skin abnormalities, such as thin and translucent skin, fat nodules, and pigmentation changes. Skeletal abnormalities may include missing or fused fingers or toes, limb deformities, and spinal defects.

Management of FDH involves a multidisciplinary approach, addressing the specific symptoms and complications that arise. Treatment options focus on improving quality of life and may include surgical interventions, physical therapy, and specialized care for associated conditions.

It is important to consult with a healthcare professional for an accurate diagnosis and appropriate management of FDH.