Ascher syndrome

What is Ascher syndrome?

Ascher syndrome is characterised by persistent swelling of the lip and eyelids, and sometimes by nontoxic thyroid enlargement. 

It was first described in 1920 by Dr. Ascher, an ophthalmologist in Prague. It is also sometimes called blepharochalasis and double lip.  

Who gets Ascher syndrome?

Ascher syndrome is rare. It appears to have no prevalence by sex, age, sex or geographical area.

What causes Ascher syndrome?

The exact cause of Ascher syndrome is unknown. If acquired, swelling of the lips and eyelids is usually due to trauma. If congenital, it stems from some developmental anomaly.

• Double lip deformity is due to persistence of horizontal sulcus with hypertrophy of the pars villosa.
• Eyelid oedema is associated with a decrease in dermal elastin.

What are the clinical features of Ascher syndrome?

The three salient characteristics of Ascher syndrome include:

• Blepharochalasis, or recurrent non-pitting, painless oedema of the eyelids in 80%  
• Lip deformity/double lip malformation due to folding of the oral mucosa. The upper lip is more often affected than the lower lip
• Thyroid gland enlargement/goitre, in 10–50%

Staging of blepharochalasis is as follows:

• Stage 1: Intermittent, painless oedema
• Stage 2: Ptosis due to dehiscence of levatur aponeurosis
• Stage 3: Ptosis adiposa, characterized by medial fat pad atrophy, orbital fat prolapse and lacrimal gland prolapse

Associated signs and symptoms of this condition include:

• Bifid uvula
• Cleft palate
• Cheilitis
• Facial vascular malformations
• Thickened lips and gums

What is the differential diagnosis of Ascher syndrome?

Angioedema causing eyelid or lip oedema is not persistent, and last hours to a few days.

Persistent eyelid oedema is sometimes a feature of phymatous rosacea.

Persistent lip swelling arises in granulomatous cheilitis and other forms of orofacial granulomatosis.

How is Ascher syndrome treated?

Treatment for Ascher syndrome can include surgery:

• To correct double lip if it interferes with speaking, eating or for aesthetic reasons
• To correct visual acuity disturbances or ocular complications

What is the outcome of Ascher syndrome?

With surgical treatment, prognosis is good and functional and aesthetic improvement can be achieved.