No abstract

No abstract

BackgroundMucous membrane pemphigoid (MMP) is an autoimmune blistering disease that is notoriously difficult to treat. Nail involvement in MMP is rare.Case presentationWe report on a 58 years old man with severe MMP who presented with onychomadesis.ConclusionTo our knowledge, mucous membrane pemphigoid associated paronychia and onychomadesis have not been reported before. We believe it is important for dermatologists to be aware of this entity.

Erythrokeratoderma (EK) is heterogeneous clinical entity characterized by excessive scaling with resulting erythrokeratotic plaques. Several genes have been linked to EK and they encode a number of proteins that are important for the integrity of the keratinocyte layer of the epidermis. PERP is a transcription factor that is activated by both p53 and p63. However, its deficiency in a mouse model appears to only recapitulate p63‐mediated role in skin development and organization. We report an extended multiplex consanguineous family in which an EK phenotype with a striking similarity to that observed in Perp−/− mice, is mapped to an autozygous region on chromosome 6 that spans PERP. Whole‐exome sequencing revealed a novel variant in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. Our results, therefore, support the establishment of an autosomal recessive PERP‐related EK phenotype in humans.