1. Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome
- Author
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Eric L. Cole, Michael G. Wilkerson, Andrew J. DeCrescenzo, and Olga S. Bachilo
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,medicine.medical_treatment ,ectodermal defect ,genetic defect ,Case Report ,Dermatology ,GENETIC ABNORMALITY ,developmental anomaly ,03 medical and health sciences ,Goltz-Gorlin syndrome ,medicine ,GGS, Goltz-Gorlin syndrome ,business.industry ,Genodermatosis ,medicine.disease ,Focal dermal hypoplasia ,PORCN ,Plastic surgery ,030104 developmental biology ,focal dermal hypoplasia ,Skin grafting ,Dominant inheritance ,business ,genodermatosis ,Goltz-Gorlin Syndrome - Abstract
Focal dermal hypoplasia, also known as Goltz-Gorlin syndrome (GGS) or Goltz syndrome, arises from a rare genetic abnormality in the WNT/β-catenin signaling pathway first described by Goltz et al in 1962.1 Molecularly, Goltz syndrome is caused by a mutation or deletion in PORCN that occurs sporadically or through X-linked dominant inheritance. We report on a 17-year-old patient who presented to our clinic with extensive papillomas on her right foot and focal dermal hypoplasia. The papillomas were a source of significant pain and prevented our patient from wearing adequate footwear. She was referred to plastic surgery for excision and skin grafting because of persistent symptoms that were not adequately controlled by topical therapy. We report this case because of paucity in the literature for this cutaneous finding and lack of reports for management.
- Published
- 2016