Early-onset acral basal cell carcinomas in Gorlin syndrome

A Torrelo; A Vicente; L Navarro; M Planaguma; E Bueno; R González-Sarmiento; A Hernández-Martín; L Noguera-Morel; L Requena; I Colmenero; A Parareda; M A González-Enseñat; R Happle

doi:10.1111/bjd.13118

Early-onset acral basal cell carcinomas in Gorlin syndrome

Br J Dermatol. 2014 Nov;171(5):1227-9. doi: 10.1111/bjd.13118. Epub 2014 Oct 1.

Authors

A Torrelo¹, A Vicente, L Navarro, M Planaguma, E Bueno, R González-Sarmiento, A Hernández-Martín, L Noguera-Morel, L Requena, I Colmenero, A Parareda, M A González-Enseñat, R Happle

Affiliation

¹ Department of Dermatology, Hospital Niño Jesus, Menendez Pelayo 65, Madrid, 28034, Spain.

PMID: 24837096
DOI: 10.1111/bjd.13118

Abstract

Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.

Publication types

Case Reports

MeSH terms

Age of Onset
Basal Cell Nevus Syndrome / genetics
Basal Cell Nevus Syndrome / pathology*
Carcinoma, Basal Cell / genetics
Carcinoma, Basal Cell / pathology*
Child
Child, Preschool
Hand
Humans
Male
Mutation / genetics
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface / genetics
Skin Neoplasms / genetics
Skin Neoplasms / pathology*
Toes

Substances

PTCH1 protein, human
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface