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Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy: A New Case
Author(s) -
Patrizi Annallsa,
Lernia Vito,
Neri Iria,
Giorgi Lucilla Badiali,
Mast Massimo
Publication year - 1994
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1994.tb00102.x
Subject(s) - medicine , epidermolysis bullosa simplex , dermatology , epidermolysis bullosa , pathology , autosomal recessive inheritance , disease , muscular dystrophy , bone marrow , gene , biochemistry , chemistry
We report an infant with a rare form of epidermolysis buliosa 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.