Goltz syndrome (focal dermal hypoplasia)
- Rare
- PORCN gene mutation: expressed in skin, craniofacial, long bones, tooth buds and eyes, protein involved in Wnt signaling, fibroblast proliferation, inhibits adipogenesis and induces osteogenesis, early limb patterning, tooth formation
- XL-D
- At birth: vermiculate dermal atrophy/telangiectasias
- Later: hypo/hyperpigmentation + fat “herniations”
- “Raspberry-like” papillomas + verrucous surface and fibrovascular core, esp. in anogenital area, lips, larynx, and acral sites
- Ectrodactyly, asymmetric syndactyly, oligodactyly, long bone reduction defects
- Eye involvement
- Ectodermal (nails, hair, teeth, dysmorphic facies)
- Aplasia cutis congenita, cleft lip/ palate
- Spine, urinary tract and uterus anomalies
- Radiographs of lower extremities midportion, osteopathia striata
- H&E: ↓dermal thickness + fewer adnexal structures
- Genetic diagnosis/counselling
- Multidisciplinary care
- Supportive treatment
- Telangiectasia: pulsed dye laser
- Exophytic papillomas: curettage or photodynamic therapy