Marina Eskin-Schwartz1,2, Yoav Metzger1, Alon Peled1,2, Daphna Weissglas-Volkov3, Natalia Malchin1, Andrea Gat4, Dan Vodo1,2, Baruch Mevorah1, Noam Shomron3, Eli Sprecher1,2, Ofer Sarig1. 1. Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 2. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 3. Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 4. Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Abstract
BACKGROUND: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. METHODS: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. RESULTS: We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. CONCLUSION: Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.
BACKGROUND: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. METHODS: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. RESULTS: We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. CONCLUSION: Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.
Authors: Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Hamidreza Mahmoudi; Razieh Karamzadeh; Ariana Kariminejad; Jianhe Huang; Leping Li; Thomas F Jannace; Paolo Fortina; Sirous Zeinali; Thomas W White; Jouni Uitto Journal: Hum Mutat Date: 2018-12-01 Impact factor: 4.878