Focal dermal hypoplasia

Focal dermal hypoplasia (FDH), also known as Goltz syndrome or Goltz-Gorlin syndrome, is a rare multisystem genetic disorder primarily affecting the skin, skeletal system, eyes, and face. It is caused by mutations in the PORCN gene, which plays a critical role in Wnt signaling pathways essential for embryonic development. The condition predominantly affects females, as it is typically lethal in males, though rare affected males have been reported (often attributed to somatic mosaicism or Klinefelter syndrome). The hallmark feature of FDH is patchy, thin skin (dermal hypoplasia) with areas where fat tissue herniates through the skin, creating soft yellowish nodules. Skin findings often follow the lines of Blaschko and may include linear streaks of hypo- or hyperpigmentation, telangiectasias, and raspberry-like papillomas of the skin and mucous membranes. Skeletal abnormalities are common and include syndactyly (fusion of fingers or toes), oligodactyly (missing digits), split hand/foot malformation, and limb asymmetry. Ocular manifestations may include colobomas, microphthalmia, and strabismus. Dental anomalies such as enamel hypoplasia, oligodontia, and malocclusion are frequently observed. Additional features can include nail dystrophy, sparse or brittle hair, and occasionally involvement of the kidneys, heart, or gastrointestinal tract. There is no cure for focal dermal hypoplasia, and management is supportive and multidisciplinary. Treatment is tailored to the individual's specific manifestations and may include surgical correction of skeletal anomalies, dermatologic management of skin lesions (including removal of papillomas if symptomatic), ophthalmologic care, dental interventions, and physical or occupational therapy. Regular monitoring by a team including geneticists, dermatologists, orthopedic surgeons, ophthalmologists, and dentists is recommended to address the wide spectrum of potential complications.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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