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To explore the contribution of functional coding variants to psoriasis, we analyzed nonsynonymous single-nucleotide variants (SNVs) across the genome by exome sequencing in 781 psoriasis cases and 676 controls and through follow-up validation in 1,326 candidate genes by targeted sequencing in 9,946 psoriasis cases and 9,906 controls from the Chinese(More)
BACKGROUND As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. METHODOLOGY We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent(More)
Epidermolysis bullosa acquisita (EBA) is a rare, acquired, subepidermal blistering disease characterized by autoantibodies directed against type VII collagen, the major component of anchoring fibrils. We report a 5-year-old Chinese boy who presented with extensive lesions consisting of disseminated pruritic vesicles and tense blisters. The diagnosis of EBA(More)
OBJECTIVE To investigate the histological classification of melasma with reflectance confocal microscopy (RCM) in vivo. METHODS Two hundred and ten cases with facial melasma lesions were enrolled. After informed consent, the target melasma lesion of 10 patients were imaged with RCM and then biopsied as well. Under the RCM scanning, the distribution of the(More)
TO THE EDITOR Psoriasis is a common, chronic, inflammatory, organ-specific autoimmune skin disease with a complex genetic background (Nestle et al., 2009; Zhang et al., 2013). Psoriasis vulgaris (PsV) is the most common type, accounting for approximately 85–90% of all psoriasis patients, and characterized by raised, well-demarcated, erythematous oval(More)
BACKGROUND Previous reports have shown that indirect immunofluorescence (IIF) performed on sodium chloride-split skin (SSS) is helpful to differentiate epidermolysis bullosa acquisita (EBA) from bullous pemphigoid (BP). Antibodies of BP may bind to the epidermal side of SSS, while antibodies of EBA bind to the dermal side. AIMS To determine the accuracy(More)
BACKGROUND The autoimmune bullous diseases quality of life (ABQOL) questionnaire was recently developed by an Australian group and has been validated in Australian and North American patient cohorts. It is a 17-item, multidimensional, self-administered English questionnaire. The study aimed to validate the Chinese version of the ABQOL questionnaire and(More)
A Kaposi varicelliform eruption (KVE) refers to a widespread cutaneous infection with a virus that often causes local vesicular eruptions over a pre-existing skin disease. Pemphigus foliaceus complicated by KVE is rare. We report the case of a 68-year-old Chi-nese woman with pemphigus foliaceus complicated by KVE. A 68-year-old woman was admitted to our(More)
BACKGROUND Differentiation of some seborrheic keratosis (SK) and verruca plana (VP) lesions is a challenge. Confocal laser scanning microscopy (CLSM) has been proved to be useful in the diagnosis of skin diseases; however, to date, there is no report on the differential study of the two diseases with CLSM. OBJECTIVES To obtain the CLSM image(More)