Ascher's syndrome

Signs and symptoms

Ascher's syndrome is clinically distinguished by the triad of double upper lip, blepharochalasis, and nontoxic goiter, which comprise the syndrome's complete form. Nontoxic goiter, on the other hand, is present in only 10% to 50% of cases, and its presence is not required for diagnosis.

Only 10% of young people with blepharochalasis have double lips. It is distinguished by the following three stages:

1. Painless swelling of the eyelids that occurs intermittently
2. Ptosis due to levator aponeurosis dehiscence or lax and thin skin falling over the eyelid margin
3. Blepharochalasis with medial fat pad atrophy, orbital fat prolapse, and lacrimal gland prolapse.

Causes

The cause of the syndrome is still unknown, though trauma and hormonal dysfunction have been suggested as possible causes. Some authors mention autosomal dominant inheritance, allergies, and defects in elastic fibers that appear fragmented or reduced in size.

The acquired type is usually caused by local trauma, whereas the congenital type is caused by a developmental defect and is often associated with bifid uvula, palatine fissure, glandular cheilitis, and hemangioma.

Diagnosis

Ascher's syndrome is diagnosed clinically. Differential diagnoses may include cardiac or renal diseases, and some syndromes, such as Ehlers-Danlos syndrome type VII, may occur in conjunction with other syndromes. Blepharochalasis and double lip can also occur as isolated conditions.

Treatment

Ascher's syndrome has no specific pharmaceutical treatment. When the condition interferes with vision, speech, or chewing cosmetic surgery is usually the treatment of choice. Surgical treatment to remove excess tissue from the eyelids or lips is usually advised. Although recurrence is rare, good functional and cosmetic results are usually obtained.

History

Ascher's syndrome was first described in 1920 by Ascher, a Prague ophthalmologist. Laffer described the association of blepharochalasis and double lip in 1909. This is why some authors continue to refer to it as Laffer-Ascher syndrome.

References

References

1. (2015). "Ascher syndrome: diagnosis and surgical approach". GN1 Genesis Network.
2. (2015). "Ascher syndrome". Medknow.
3. (2015). "Ascher′s syndrome: A rare case report". Medknow.
4. (2015). "Ascher Syndrome: Report of a Case with Early Manifestations". SAGE Publications.