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  • Title: Renal and testicular agenesis in a patient with Darier's disease.
    Author: Matsuoka LY, Wortsman J, McConnachie P.
    Journal: Am J Med; 1985 May; 78(5):873-7. PubMed ID: 3993667.
    Abstract:
    Darier's disease is a familial disorder of the skin that has been associated with corneal, bone, pulmonary, and urogenital abnormalities. This report describes a novel urogenital anomaly, namely renal and testicular agenesis, in a patient with Darier's disease. Detailed study of the kindred demonstrated an autosomal dominant pattern of inheritance for Darier's disease and also revealed the presence of autoimmune thyroiditis in several family members. Thyroid involvement ranged from isolated goiter to hypothyroidism. Tissue typing for HLA-A, B, C, and DR antigens did not reveal a specific haplotype common to all the carriers of the cutaneous or thyroid disorder. It is concluded that patients with Darier's disease should be carefully evaluated for the occurrence of systemic diseases, especially urogenital abnormalities and thyroid disorders.
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