Unexpected manifestation of naevoid basal cell carcinoma (Gorlin) syndrome with a novel mutation in the PTCH1 gene in a female patient with long-lasting pemphigus vulgaris

J Eur Acad Dermatol Venereol. 2016 Mar;30(3):493-4. doi: 10.1111/jdv.12880. Epub 2015 Jan 20.

Authors

S Goetze¹, F Raessler¹, U C Hipler¹, S Schulz², J Kohlhase³, P Elsner¹

Affiliations

¹ Department of Dermatology, Skin Cancer Center, Jena University Hospital, Jena, Germany.
² Center for Human Genetics, Jena University Hospital, Jena, Germany.
³ Center for Human Genetics, Freiburg, Germany.

PMID: 25600101
DOI: 10.1111/jdv.12880

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Basal Cell Nevus Syndrome / complications
Basal Cell Nevus Syndrome / genetics*
Basal Cell Nevus Syndrome / metabolism
Biopsy
DNA Mutational Analysis
DNA, Neoplasm / genetics*
Female
Humans
Middle Aged
Mutation*
Patched-1 Receptor / genetics*
Patched-1 Receptor / metabolism
Pemphigus / complications*
Pemphigus / diagnosis
Skin / pathology*
Skin Neoplasms / complications
Skin Neoplasms / genetics*
Skin Neoplasms / metabolism

Substances

DNA, Neoplasm
PTCH1 protein, human
Patched-1 Receptor