Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle

Acta Derm Venereol. 2020 Aug 18;100(15):adv00241. doi: 10.2340/00015555-3599.

Authors

Kinan Hayani¹, Kathrin Giehl, Jörg Kumbrink, Judith Fischer, Max Schlaak, Lars E French, Andreas Wollenberg

Affiliation

¹ Department of Dermatology and Allergy, University of Munich LMU, DE-80337 Munich, Germany. E-mail: [email protected].

Abstract

is missing (Short communication).

Keywords: RASopathy; Schimmelpenning-Feuerstein-Mims syndrome; next generation sequencing; phacomatosis pigmentokertotica.

Publication types

Case Reports

MeSH terms

Fatal Outcome
Humans
Mutation
Nevus, Pigmented* / genetics
Skin Neoplasms* / genetics

Supplementary concepts

Phacomatosis pigmentokeratotica