PDF(Pubmed)
Abstract：
Kindler syndrome (KS) is a rare autosomal recessive skin condition. The FERMT1 gene mutates and causes symptoms such as blistering and epidermal atrophy, as well as an increased risk of cancer and poor wound healing. A male in his 20s sought treatment for his hyper-hypopigmentation over the body with poikiloderma of the face with thin wrinkled cigarette paper skin in association with photosensitivity. He gave a history of developing blisters all over the body during his childhood, which formed raw areas and eventually healed forming atrophic scars. The objective is to assess the correlation of clinical findings with dermoscopy in a case of KS. KS is a rare disorder with poikiloderma, photosensitivity, and acral bullae in infancy as predominant features. Dermoscopy proves to be a useful tool in the diagnosis of this rare disorder as it helps in the identification of poikiloderma, adermatoglyphia, and cigarette paper scarring.
摘要：
Kindler综合征（KS）是一种罕见的常染色体隐性皮肤病。FERMT1基因突变并引起诸如起泡和表皮萎缩等症状，以及癌症和伤口愈合不良的风险增加。一名20多岁的男性寻求治疗，因为他的身体色素沉着过度，面部变硬，卷烟纸皮肤薄薄的皱纹与光敏性有关。他在童年时期就有过全身水泡的历史，形成原始区域并最终治愈，形成萎缩性疤痕。目的是评估KS患者的临床发现与皮肤镜检查的相关性。KS是一种罕见的真皮病，光敏性,婴儿期的肢端大疱为主要特征。皮肤镜检查被证明是诊断这种罕见疾病的有用工具，因为它有助于鉴定真皮病，Adermatoglyphia,和香烟纸疤痕。
