Ascher syndrome

Ascher syndrome is a very rare condition that primarily involves the eyelids and lips. People with this syndrome may experience blepharochalasis, which is repeated swelling of the eyelids, and a double lip appearance caused by extra tissue on the upper lip. Around puberty, these signs often begin, with the eyelid changes being noted in about 80% of cases. In some cases, there is also a non-toxic enlargement of the thyroid gland, although this feature is seen in only 10-50% of people with Ascher syndrome. Even though all three features can occur together, it is uncommon for them all to be present at the same time. Most cases appear sporadically, but there are reports of familial cases that suggest a possible autosomal dominant inheritance pattern.

Common symptoms include episodic swelling of the eyelids (blepharochalasis), which usually appears around puberty and is typically seen on both sides. People with this condition may also show a double lip, where the upper lip appears enlarged due to extra mucosal tissue. In some cases, there is a non-toxic thyroid enlargement. The severity and combination of these features can vary between individuals.

The exact cause of Ascher syndrome is not well understood. Most cases occur sporadically without a clear family history. However, some familial cases have been observed, which suggests that there may be an autosomal dominant inheritance pattern in some families.

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.