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Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome
- Source :
- JAAD Case Reports
- Publication Year :
- 2016
- Publisher :
- Elsevier, 2016.
-
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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 23525126
- Volume :
- 2
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- JAAD Case Reports
- Accession number :
- edsair.doi.dedup.....641a0bcde1a4a0ab428aaf9b8105e01f