Kinky Hair Disease
1987; Elsevier BV; Linguagem: Inglês
10.1016/b978-0-409-90018-7.50036-0
Autores Tópico(s)Metabolism and Genetic Disorders
ResumoPublisher Summary This chapter focuses on kinky hair disease, also known as Menkes' kinky hair disease or trichopoliodystrophy, which is a focal degenerative disorder of gray matter. The basic cellular defect for kinky hair disease is still not clarified. The characteristic feature of the disease is a maldistribution of body copper, so that it accumulates to abnormal levels in a form or location rendering it inaccessible for the synthesis of copper enzyme. Kinky hair disease is transmitted as an X-linked trait. In many instances, the diagnosis is suggested by the clinical history of unexplained hypothermia and hypotonia, and the appearance of the infant's hair. Trichorrhexis nodosa may also be seen in arginosuccinicaciduria, biotin deficiency, and Pollitt's syndrome.
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