Epidermolysis bullosa simplex associated with muscular dystrophy: A new case

A. Patrizi, V. Di Lernia, I. Neri, L. B. De Giorgi, M. Masi

Research output: Contribution to journalArticlepeer-review


We report an infant with a rare form of epidermolysis bullosa simplex characterized by an autosomal recessive pattern of inheritance, severe cutaneous involvement, oral and nail lesions, association with muscular dystrophy, and a poor prognosis, due to extracutaneous disease. In addition to the usual presentation of this disease, our patient had severe anemia, with immature circulating white cells, and bone marrow histology suggestive of a pre-leukemic state, a finding which has not before been reported in the literature.

Original languageEnglish
Pages (from-to)342-345
Number of pages4
JournalPediatric Dermatology
Issue number4
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health


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