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This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.