Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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DOI：
10.1001/archderm.140.4.466
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发表时间：
2004-04-01
影响因子：
--
通讯作者：
Goldsmith, LA
中科院分区：
文献类型：
--
作者：
Nieves, DS;Phipps, RP;Goldsmith, LA
背景资料：免疫失调、多内分泌病、肠病、X连锁（IPEX）综合征是一种罕见的遗传性皮肤病，与皮炎、肠病、1型糖尿病、甲状腺炎、溶血性贫血和血小板减少症相关。IPEX是由FOXP 3突变引起的，FOXP 3是一种位于X染色体上的基因，编码调节性T细胞发育所需的DNA结合蛋白。如果不治疗，受影响的男性在生命早期死于吸收不良和其他并发症。据我们所知，这种综合征从来没有在皮肤病学literation.Observations描述：我们研究了一个11岁的男孩与IPEX。突变分析显示，第11号外显子中存在G-->A转换（11506>A），导致DNA结合位点内第384位残基处的Ala-->Thr发生推定取代。组织病理学检查的活动性皮肤病变显示银屑病样皮炎。使用氯倍他索软膏后，病变改善。患者还表现出自18个月大以来一直存在的普秃，伴有指甲纵向隆起。淋巴细胞的挑战试验表明，一个深刻的无法合成干扰素γ（INF-γ）和失调的生产其他cytokines.Conclusions：IPEX是一种往往致命的遗传性皮肤病与多种自身免疫性疾病。皮肤发现可能包括皮炎、大疱、荨麻疹、普秃和粗甲。识别这种危及生命的疾病对于最佳治疗和遗传咨询至关重要。
Background: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genodermatosis associated with dermatitis, enteropathy, type 1 diabetes, thyroiditis, hemolytic anemia, and thrombocytopenia. IPEX results from mutations of FOXP3, a gene located on the X chromosome that encodes a DNA-binding protein required for development of regulatory T cells. If untreated, affected males die early in life from malabsorption and other complications. To our knowledge, this syndrome has never been described in the dermatology literature.Observations: We studied an 11-year-old boy with IPEX. Mutation analysis revealed a G-->A transition (11506>A) in exon 11, resulting in a putative substitution of Ala-->Thr at residue 384, within the DNA-binding site. Histopathologic examination of an active skin lesion revealed psoriasiform dermatitis. The lesions improved with clobetasol ointment. The patient also displayed alopecia universalis, which had been present since age 18 months, accompanied by longitudinal ridging of the nails. Lymphocyte challenge tests revealed a profound inability to synthesize interferon gamma (INF-gamma) and dysregulated production of other cytokines.Conclusions: IPEX is an often fatal genodermatosis associated with multiple autoimmune disorders. Cutaneous findings may include dermatitis, bullae, urticaria, alopecia universalis, and trachyonychia. Recognition of this life-threatening disorder is crucial for optimal treatment and genetic counseling.