Palacios-Álvarez I (1), González-Sarmiento R (2), Fernández-López E (3).
(1) Departamento de Dermatología, Clínica Universidad de Navarra, Pamplona, España.
(2) Unidad de Medicina Molecular, Facultad de Medicina, Universidad de Salamanca, Salamanca, España; Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, España.
(3) Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, España; Departamento de Dermatología, Hospital Clínico Universitario, Salamanca, España.
Magazine: Actas Dermosifiliográficas
Date: Apr 1, 2018Dermatology
Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma.
Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up.
Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed.
Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance.
CITATION Actas Dermosifiliogr. 2018 Apr;109(3):207-217. doi: 10.1016/j.ad.2017.07.018. Epub 2018 Jan 17
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