[Skip to Navigation]
November 1991

Cerebellar Ataxia in a Family With Recurrent Epidermolysis Bullosa Dystrophica

Author Affiliations

Division of Biology and Genetics Department of Biomedical Sciences and Biotechnologies; Neurological Clinic; Institute of Clinical Dermatology University of Brescia Via Valsabbina 19 25123 Brescia, Italy; Institute of Radiology Ospedale Civile di Brescia Piazzale Spedali Civili 1 25123 Brescia, Italy

Arch Dermatol. 1991;127(11):1737. doi:10.1001/archderm.1991.01680100141032

To the Editor.—  We describe a family in northern Italy with a 9-year-old boy affected by severe generalized epidermolysis bullosa dystrophica (SGEBD)1 and his two sisters who show cerebellar ataxia (CA) of postpubertal onset.

Report of Cases.—  A diagnosis of SGEBD was made (IV, 17 [Figure]) on the basis of the following clinical evidence: edentia; generalized blistering of the skin, covering 20% of the body; atrophy of the distal walls of the limbs; fusion of the digits; ulcerous lesions of the pharynx with lumen restriction; and impaired growth. This diagnosis was also confirmed by electron microscopic examination of skin biopsy specimens. Five months after the boy's birth, in the intact skin of the patient, the condition of the skin on the basal cell side of the dermoepidermal junction was normal, with undisturbed hemidesmosomes, plasma membrane, and basal lamina, thus excluding the diagnosis of epidermolysis simplex and/or epidermolysis bullosa

Add or change institution