Xeroderma pigmentosum

Abstract

SUMMARYFollowing some observations on the pathogenesis and clinical manifestations of « Xeroderma Pigmentosum «, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular recessive inheritance. In the second case the lack of sufficient familial information suggests a non-genetic origin. In both cases it was possible to rol out venereal disease as the causin factor, and the disease appeared only after the third year of age, at 10 years in one case, with onset at the cornea. In the latter case the EEG reveals variations indicating the existence of organic brain disturbances which (associated with the ocular alterations) suggests the occurence of a neuroectodermosis.In any case it would be wise to warn Xeroderma patients that in the case of consanguineous marriage, there is the danger of the recessive disease (latent in both parents) becoming real; otherwise the physician may, after such a marriage, support the possible request for sterilization on the part of the patient.