Stern-Lubinsky-Durrie syndrome

Stern-Lubinsky-Durrie syndrome is a rare genetic condition that affects several parts of the body. People with this condition face problems with their eyes, skin, bones, and teeth. In many cases, individuals experience changes in the corneal epithelium, which can cause sensitivity to light, burning, and watering of the eyes. There are also skin changes including diffuse palmoplantar hyperkeratosis (thickening of the skin on the palms and soles), and problems with the nails such as distal onycholysis. The syndrome is also linked to changes in the bones of the hands (brachydactyly), short stature, dental issues, and a history of premature birth. This condition has been observed in a single family across three generations, indicating a genetic pattern of transmission. Information provided comes primarily from detailed clinical observations of affected individuals within that family.

Common symptoms include changes in the eye’s corneal epithelium, which may lead to photophobia (light sensitivity), burning, and watering of the eyes. People with this condition may also have thickened skin on the palms and soles, nail issues, shortened fingers (brachydactyly), dental problems, and overall short stature. A history of premature birth has also been noted.

The syndrome is inherited as an autosomal dominant trait. This means that having a single copy of the gene thought to cause the condition can result in the syndrome. The detailed genetic mechanism is not yet fully understood.

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.