Fine J D, Stenn J, Johnson L, Wright T, Bock H G, Horiguchi Y
Department of Dermatology, School of Medicine, University of Alabama, Birmingham 35294.
Arch Dermatol. 1989 Jul;125(7):931-8. doi: 10.1001/archderm.125.7.931.
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.
除少数例外情况外，单纯性大疱性表皮松解症（EB）是一种常染色体显性疾病，其特征为局部性且复发性的无瘢痕水疱形成；黏膜和其他器官通常未受累。最近，有两名患者被描述为患有与肌肉萎缩症相关的常染色体隐性形式的单纯性EB。我们现在描述另外四名常染色体隐性单纯性EB患者，其中三名伴有肌肉萎缩症或先天性重症肌无力。这些患者有全身性皮肤表现，包括粟丘疹、萎缩性瘢痕、指甲营养不良和头皮脱发，这些表现传统上被归因于交界性或营养不良性EB。每位患者均有明显的口腔受累，其中两名患者还伴有明显的生长发育迟缓及贫血。我们的研究结果表明，常染色体隐性单纯性EB可能以相当严重的皮肤和皮肤外疾病活动为特征，并且可能与至少两种不同的神经肌肉疾病相关。
