Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.
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, associated 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.
Patrizi
A
A
Department of Dermatology, University of Bologna, Italy.
Di Lernia
V
V
Neri
I
I
Badiali De Giorgi
L
L
Masi
M
M
D000740:Anemia / Q000209:etiology; D018450:Disease Progression; D016110:Epidermolysis Bullosa Simplex / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D011030:Pneumothorax / Q000209:etiology; D012131:Respiratory Insufficiency; D012867:Skin / Q000648:ultrastructure