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This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.

This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.

This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.