Cutaneous Findings In Unverricht's Syndrome: (Progressive Familial Myoclonic Epilepsy)

Unverricht's syndrome (progressive familial myoclonic epilepsy) appears to be due to a systemic disturbance in mucopolysaccharide metabolism. Abnormal deposits of acid mucopolysaccharide have been previously demonstrated in the central nervous system, retina, spinal nerves, cardiac muscle, and liver of patients reported with this syndrome. Our patient was found to have unusual papules and nodules behind both ears as well as indurated, thickened skin of both forearms. Histochemical studies of tissue from these lesions demonstrated large amounts of acid mucopolysaccharide. This appears to be the first example of Unverricht's syndrome with positive cutaneous findings, suggesting that a simple punch biopsy with suitable histochemical study of nodular or infiltrated areas of skin may be an easy method of substantiating the diagnosis.