Ultrastrukturelle Unterscheidungsmerkmale von autosomal-dominanter Ichthyosis vulgaris und X-chromosomal rezessiver Ichthyosis

Abstract

Ultrastructural evidence is presented for significant distinction of autosomal dominant ichthyosis vulgaris (ADI) and x-linked recessive ichthyosis (XRI). In the case of ADI a severe disturbance of keratohyalin synthesis reults in a largely reduced deposition of minute abnormal keratohyalin granules of crumbly appearance; on the contrary, keratohyalin in XRI is synthesized in normal or increased amounts. The mode of inheritance has been confirmed by genetic analysis of the patient’s families.