Happle-Tinschert syndrome

Happle-Tinschert syndrome (HTS) is a rare multisystem disorder. It is most visibly marked by areas of lighter and darker skin that follow specific patterns known as Blaschko's lines. These skin changes are a key feature of the condition. In addition to the skin findings, people with this condition may present with abnormalities in the bones of the hands and feet (acral skeletal abnormalities) as well as other possible anomalies. The syndrome is also linked with the growth of basaloid follicular hamartomas, which are benign skin growths.

People with Happle-Tinschert syndrome often show a mix of lighter and darker skin patches that align along Blaschko's lines. They may also have unusual bone development in the hands, feet, or other parts of the body, which can be part of the spectrum of symptoms.

Happle-Tinschert syndrome is caused by a postzygotic (occurring after fertilization) mutation in the SMO gene. This mutation leads to the varied physical features seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.