Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.
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DOI：
10.1001/archderm.1989.01670190065007
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发表时间：
1989-07
影响因子：
--
通讯作者：
J. Fine;Judit Stenn;L. Johnson;Timothy Wright;Hans Georg O. Bock;Yuji Horiguchi
中科院分区：
文献类型：
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作者：
J. Fine;Judit Stenn;L. Johnson;Timothy Wright;Hans Georg O. Bock;Yuji Horiguchi
除了少数例外，单纯性大疱性表皮病（EB）是一种常染色体显性遗传疾病，其特征是相当局限性和复发性非瘢痕性水疱形成;粘膜和其他器官通常不受影响。最近，两名患者被描述为与肌营养不良症相关的常染色体隐性形式的EB单纯型。我们现在描述另外四例常染色体隐性遗传单纯EB患者，其中三例伴有肌营养不良或先天性重症肌无力。这些患者有全身性皮肤表现，包括粟粒疹、萎缩性瘢痕、指甲营养不良和头皮脱发，这些通常归因于交界性或营养不良性EB。每例患者都有明显的口腔受累，其中2例还存在明显的生长迟缓和贫血。我们的研究结果表明，常染色体隐性遗传单纯性EB可能的特点是相当严重的皮肤和皮外疾病的活动，并可能与至少两种不同的神经肌肉疾病。
With few exceptions, epidermolysis bullosa (EB) simplex is an autosomal dominant disorder characterized by rather localized and recurrent nonscarring blister formation; mucous membranes and other organs are usually uninvolved. Recently, two patients were described with an autosomal recessive form of EB simplex associated with muscular dystrophy. We now describe four additional patients with autosomal recessive EB simplex, three of whom had associated muscular dystrophy or congenital myasthenia gravis. These patients had generalized cutaneous findings, including milia, atrophic scarring, nail dystrophy, and scalp alopecia, which have been classically attributed to either junctional or dystrophic EB. Each patient had significant oral cavity involvement, and in two, marked growth retardation and anemia were also present. Our findings suggest that autosomal recessive EB simplex may be characterized by rather severe cutaneous and extracutaneous disease activity, and may be associated with at least two distinct neuromuscular diseases.