heredity

 The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide. It belongs to the group of peroxisomal diseases, is associated with the accumulation of fatty acids with a very long chain and is characterized by a combined lesion of the nervous system and adrenal glands. X-ALD in neurology and Pediatrics require a targeted individual approach to each patient, genetic tests in relatives and prenatal diagnosis among patients at risk.

This review summarizes the literature, specifically describing etiology, pathogenesis, classification and inheritance of ichthyosiform dermatoses. A case of ichthyosis vulgaris inherited in three generations of a family is described.

The data of literature, reflecting etiology, clinical features and differential diagnosis of progeria of childhood and adult are presented