Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.
复制标题
一名日本板层状鱼鳞病患者因 SDR9C7 纯合缺失突变导致角质层细胞间脂质缺陷。
DOI：
10.1111/bjd.15315
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Akiyama M.
中科院分区：
文献类型：
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作者：
Takeichi T;Nomura T;Takama H;Kono M;Sugiura K;Watanabe D;Shimizu H;Simpson MA;McGrath JA;Akiyama M.
常染色体隐性遗传性先天性鱼鳞病（ARCI）是遗传性非综合征鱼鳞病的总称，包括丑角鱼鳞病、板层鱼鳞病（LI）、先天性鱼鳞病样红皮病和多形性鱼鳞病（也称为自愈/自我改善火棉胶婴儿）。1临床多样性与遗传异质性相匹配，目前有11个基因与ARCI的病理生物学有关，2，3包括最近在三个黎巴嫩血缘家庭中发现的SDR 9 C7中的两个错义突变。4在这里，我们描述了一例ARCI（LI表型）病例，该病例在SDR 9 C7中存在以前未报告的纯合缺失突变。我们扩展了与SDR 9 C7突变相关的临床特征谱，并确定了角质层中细胞间脂质缺乏和细胞间脂质层畸形。患者是一名72岁的日本女性，是11名非血缘父母所生兄弟姐妹中最小的一名。出生时，她被发现有火棉胶膜，出生后出现鱼鳞病症状。她接受了全身性类维生素A治疗;然而，无效，她的量表恶化。她的其他病史包括糖尿病和高血压。经检查，她的躯干和四肢有大的、白色至浅棕色鳞屑，无红皮病（图1a，B）。有掌跖角化病。她没有头发、指甲、牙齿或粘膜异常，视力和听力正常。无任何皮肤病家族史。
Dear Editor, Autosomal recessive congenital ichthyosis (ARCI) is an umbrella term for inherited nonsyndromic ichthyosis, which includes harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma and pleomorphic ichthyosis (also called self-healing/self-improving collodion baby). 1 The clinical diversity is matched by genetic heterogeneity, with 11 genes currently implicated in the pathobiology of ARCI, 2, 3 including the most recent discovery of two missense mutations in SDR9C7 in three consanguineous Lebanese families. 4 Here we describe a case of ARCI (LI phenotype) with a previously unreported homozygous deletion mutation in SDR9C7. We extend the spectrum of clinical features associated with SDR9C7 mutations and identify deficient intercellular lipid and malformation of intercellular lipid layers in the stratum corneum.The patient is a 72-year-old Japanese woman, the youngest of 11 siblings born to nonrelated parents. At birth she was noticed to have collodion membrane and presented with symptoms of ichthyosis after birth. She was treated with systemic retinoid; however, it was ineffective and her scales got worse. Her other medical history included diabetes mellitus and hypertension. On examination, she had large, whitish to light brown scales without erythroderma on her trunk and extremities (Fig. 1a, b). There was palmoplantar keratoderma. She had no hair, nail, dental or mucosal abnormalities, and vision and hearing were normal. There was no family history of any skin disorder.