Ascher's syndrome

Overview

Ascher’s Syndrome is a rare, benign condition characterized by a classic triad of clinical features: double upper lip (redundant mucosal fold), blepharochalasis (recurrent eyelid swelling leading to droopy eyelids), and sometimes non-toxic thyroid enlargement (euthyroid goiter). First described by Karl Ascher in 1920, the syndrome typically presents in childhood or adolescence and progresses gradually.

While it is not life-threatening, Ascher’s Syndrome can cause aesthetic and functional issues, particularly involving speech, vision, or facial appearance.

Causes

The exact cause of Ascher’s Syndrome remains unknown. It is considered an idiopathic condition, though some researchers suggest it may have a genetic or hereditary component, particularly when there is a family history of similar features.

Blepharochalasis is thought to result from recurrent, painless inflammation or localized angioedema, while the double lip may be congenital or develop during puberty. The thyroid enlargement, when present, is non-toxic and not associated with thyroid dysfunction.

Symptoms

The symptoms of Ascher’s Syndrome vary in severity and usually develop gradually over time. The hallmark features include:

1. Double Upper Lip:

• Redundant mucosal fold on the inner upper lip, more prominent when smiling or speaking

• May affect speech, eating, or cause cosmetic concern

2. Blepharochalasis:

• Recurrent, painless eyelid swelling (especially upper eyelids)

• Over time, leads to lax, redundant eyelid skin

• Can impair vision or give a fatigued appearance

3. Non-toxic Thyroid Enlargement (in ~10–50% of cases):

• Painless goiter with normal thyroid hormone levels

• Usually asymptomatic and detected incidentally

Not all patients present with the full triad; some may have only one or two of the features.

Diagnosis

Diagnosis is primarily clinical, based on recognition of the characteristic signs. Additional investigations are used to rule out other conditions:

• Physical examination: Identifies double lip, eyelid changes, and goiter

• Thyroid function tests: Typically normal (to confirm non-toxic goiter)

• Imaging: Ultrasound of the thyroid if enlargement is present

• Biopsy (rarely needed): To exclude neoplastic or inflammatory conditions if atypical features are present

Other conditions such as Melkersson–Rosenthal syndrome or angioedema may need to be ruled out based on the patient’s history.

Treatment

Treatment of Ascher’s Syndrome is not always necessary unless symptoms interfere with function or cause cosmetic concerns. Options include:

Surgical Management:

• Cheiloplasty: Surgical correction of the double lip to improve appearance and function

• Blepharoplasty: Excision of excess eyelid skin for functional or cosmetic reasons

Medical Management:

• No specific medication is required

• In some cases, anti-inflammatory medications may help reduce acute eyelid swelling

Monitoring:

• Regular thyroid examinations if goiter is present

• Endocrinology referral if thyroid function becomes abnormal

Prognosis

The prognosis of Ascher’s Syndrome is generally excellent. The condition is benign, non-progressive in many cases, and does not affect life expectancy. Cosmetic and functional impairments can usually be corrected surgically with good results.

Recurrent blepharochalasis may persist into adulthood, but most symptoms stabilize over time. Early diagnosis and management can significantly improve the patient’s quality of life and self-confidence.