Olmsted syndrome, X-linked

Olmsted syndrome, X-linked is a condition that primarily affects the skin, especially the palms and soles, and is characterized by keratoderma and periorificial plaques as suggested by its descriptive name. The condition is linked to variants in the MBTPS2 gene, which plays a role in important cellular processes, although the precise molecular details remain under investigation. Because it follows an X-linked pattern of inheritance, affected individuals are most often males, while females may experience milder manifestations. Precise prevalence data are not well established, and available information is limited.

Individuals with Olmsted syndrome, X-linked may present with significant skin findings, which include thickening of the skin on the palms and soles as well as keratotic plaques around body orifices, as implied by the condition’s synonym description. Although detailed clinical features have not been extensively characterized in the current packet, the available descriptors suggest that the skin changes can be severe and, in some cases, even mutilating. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the MBTPS2 gene, which is implicated in key cellular pathways. Olmsted syndrome, X-linked is inherited in an X-linked pattern, meaning that affected individuals are typically males, while females may show milder symptoms due to skewed X-inactivation. The inheritance pattern indicates that family members, including potential female carriers, might have subtle signs and should consider discussing monitoring and family planning with their healthcare provider. Genetic counseling is recommended for families to understand these implications more fully. Associated genes include MBTPS2.