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This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

In this study, a case of a 20-year-old woman revealed ectopic acanthosis nigricans at a post-syndactyly-release surgical site, suggesting this rare condition could result from epidermal–dermal mismatch and altered growth factor signaling in grafted skin, without indicating any metabolic or malignancy concerns.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.