[Olmstedt syndrome--associated with primary sclerosing cholangitis and immune deficiency of uncertain origin]

The Olmstedt syndrome is an erythrokeratodermia of unknown aetiopathogenesis, which mostly becomes manifest in early childhood. Skin lesions involve palms, soles and the periorificial regions. Up to now only 6 cases have been reported. We present a new case of a 45-year-old woman who had started developing the characteristic skin lesions at the age of 30. Remarkably, primary sclerosing cholangitis and an immunodeficiency of an unknown origin were present in this patient. Systemic treatment with glucocorticosteroids cleared the periorificial lesions temporarily, whereas the palmoplantar keratoses hardly responded to therapy. An attempt at treatment with retinoids was precluded by the presence of hepatic disease.