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The article presents a case study of three white patients with Brooke–Spiegler syndrome (BSS) who were initially diagnosed both clinically and histopathologically. Topics include mutation analysis of the cylindromatosis (CYLD) gene, which revealed three splice site mutations and assessment of the expression of CYLD in normal human epidermal keratinocytes (NHEK), leucocytes and peripheral blood mononuclear cells (PBMC) by quantitative reverse transcriptase (qRT)-PCR.

Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene. A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article about the missense mutation in KRT14 which cause a Naegeli-Franceschetti-Jadasshn syndrome/dermatopathia igmentosa reticularis (NFJS/DPR).

A letter to the editor is presented in response to the article "Nail Dystrophy in Focal Acral Hyperkeratosis: A Distinctive Feature," by Z. Khamaysi, R. Bergman and E. Sprecher in the previous issue of the journal.