Naegeli-Franceschetti-Jadassohn syndrome

Naegeli-Franceschetti-Jadassohn syndrome is a rare genetic disorder classified as an ectodermal dysplasia. It primarily affects the skin, sweat glands, nails, and teeth. People with this condition may notice changes in the skin and alterations in nail and dental structures, which are signs of the underlying ectodermal development issues. The syndrome is named after the clinicians who first described its features. While the manifestations vary among people, the changes in skin patterns, tooth formation, and sweat gland function are central features of the condition.

People with this condition often experience distinct changes in the skin, such as a reticular (net-like) pattern. Dental anomalies and reduced sweat gland function have also been reported. Some descriptions include issues with the nails, and there are mentions of eye-related signs like strabismus and optic atrophy, although details may vary among affected individuals.

Naegeli-Franceschetti-Jadassohn syndrome is linked to changes in the KRT14 gene. This gene is important for producing proteins that help form the skin and other tissues. The genetic changes affect ectodermal development, which leads to the skin, nail, teeth, and sweat gland abnormalities observed in this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.