Symposium 2-2-3 (SYP 2-2-3) : Localized blistering associated with reticular pigmentation = Symposium 2-2-3 (SYP 2-2-3) : Localized blistering associated with reticular pigmentation

다국어 초록 (Multilingual Abstract)

A 26-year-old male patient presented with localized blistering since birth, accompanied with patchy, reticulated hyperpigmentation on the flexural areas since mid-teenage. He also showed mild palmoplantar keratoderma and diffuse alopecia on the scalp. Histopathology revealed intraepidermal blistering with degeneration of basal keratinocytes. Direct immunofluorescence showed negative result and immunofluorescence mapping showed KRT5, KRT10, collagen 4 & 7 deposition on the dermal side of the blister. Electron microscopy showed cytolysis and keratin clumping in the epidermis. Increased numbers of melanosomes in keratinocytes and dermal melanophages were also shown. Genetic analysis showed a mutation in KRT14 (exon1 c.374C>C, p.Arg125Cys), which is most commonly reported in the subtype previously known as EBS-DM.