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July 1989

Autosomal Recessive Epidermolysis Bullosa Simplex: Generalized Phenotypic Features Suggestive of Junctional or Dystrophic Epidermolysis Bullosa, and Association With Neuromuscular Diseases

Author Affiliations

From the Department of Dermatology, School of Medicine (Drs Fine, Johnson, and Horiguchi), and the Department of Pediatric Dentistry, School of Dentistry (Dr Wright), University of Alabama at Birmingham; the Dermatology Section, Medical Service, Birmingham (Ala) Veterans Administration Medical Center (Dr Fine); the Department of Dermatology, Yale University School of Medicine, New Haven, Conn (Dr Stenn); and the Division of Medical Genetics, Departments of Preventive Medicine and Pediatrics, School of Medicine, University of Mississippi Medical Center, Jackson (Dr Bock).

Arch Dermatol. 1989;125(7):931-938. doi:10.1001/archderm.1989.01670190065007

• 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, atrophicscarring, 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.

(Arch Dermatol. 1989;125:931-938)

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