Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of
Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a …

Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening.
Recently, it has been reported that familial GPP is caused by homozygous or …

Heterogeneous expression of melanocytic antigens occurs frequently in melanomas and
represents a potent barrier to immunotherapy. We previously showed that coordinated losses …

Atopic dermatitis (AD) is commonly associated with colonization by Staphylococcus aureus
in the affected skin. To understand the role of S. aureus in the development of AD, we …

The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is
important to the integrity of the permeability barrier in the stratum corneum, and its absence …

Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of
Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance. We have clarified …

The involvement of complement activation in the pathophysiology of antiphospholipid
syndrome (APS) was first reported in murine models of antiphospholipid antibody (aPL)-related …

Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder of cutaneous
pigmentation with an autosomal dominant pattern of inheritance and a high penetration rate. The …

Background Musculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function
variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in …

Objective Transcription intermediary factor 1γ (ΤΙF1γ) protein is known as a tumour suppressor
that promotes cellular differentiation. Autoantibodies to ΤΙF1γ have a strong clinical …