Focal dermal hypoplasia (FDH), also known as Goltz syndrome or focal dermal hypoplasia syndrome, is a rare genetic disorder characterized by various structural and developmental abnormalities that primarily affect the skin, skeletal system, eyes, and other organs.
FDH is caused by mutations in the PORCN gene, which is responsible for the proper development and functioning of various tissues in the body. This X-linked dominant disorder predominantly affects females, while males with FDH typically experience more severe symptoms.
The main characteristic feature of FDH is the presence of patchy areas of underdeveloped or absent skin, especially on the hands, feet, face, and trunk. These areas may appear as red or pink patches, thin skin, or streaks of tiny blisters. In addition to skin abnormalities, individuals with FDH may have skeletal abnormalities such as syndactyly (fused digits), split-hand/foot deformity, or limb malformations. Eye abnormalities, including coloboma (a defect in the iris), strabismus, and vision problems, are also common in FDH.
Other health issues associated with FDH may include dental anomalies, growth retardation, hearing loss, gastrointestinal problems, and genitourinary abnormalities. However, the severity and range of symptoms can vary widely among affected individuals.
Treatment for FDH is primarily focused on managing and addressing specific symptoms. This may involve surgical interventions for limb deformities, careful monitoring and treatment of eye and dental problems, and supportive care for other associated health issues. Genetic counseling is crucial for individuals and families affected by FDH to understand and cope with the condition's inheritable nature and potential risks.
