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
Colombi M, Gardella R, Barlati S, Cappa SF, Marini D, Gasparotti R. Cerebellar Ataxia in a Family With Recurrent Epidermolysis Bullosa Dystrophica. Arch Dermatol. 1991;127(11):1737. doi:10.1001/archderm.1991.01680100141032