Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome
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چکیده
منابع مشابه
Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome
GGS: Goltz-Gorlin syndrome INTRODUCTION Focal dermal hypoplasia, also known as GoltzGorlin syndrome (GGS) or Goltz syndrome, arises from a rare genetic abnormality in the WNT/b-catenin signaling pathway first described by Goltz et al in 1962. 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...
متن کاملGorlin-Goltz Syndrome
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multi...
متن کاملGorlin-Goltz syndrome.
Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The...
متن کاملGorlin-Goltz Syndrome
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very...
متن کاملGorlin-Goltz syndrome: clinicopathologic aspects.
Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the "Patched" tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is about a multisystemic process that is characterised ...
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ژورنال
عنوان ژورنال: JAAD Case Reports
سال: 2016
ISSN: 2352-5126
DOI: 10.1016/j.jdcr.2016.07.001