Ascher syndrome

Blepharochalasis and double lip; Blepharochalasis double lip syndrome.

Ascher syndrome is a rare, idiopathic syndrome that usually occurs in childhood and is characterized by the clinical triad of blepharochalasis, double lip, and occasionally euthyroid goiter. The lip change typically affects the upper lip.

Very rare pediatric dysmorphic syndrome. It was first described by Ascher in 1920. Both sexes are equally affected. The onset of the disease is usually in childhood or adolescence.

No subtypes have been described.

The etiology is unclear. Sporadic new mutations are hypothesized. An autosomal dominant inheritance pattern with variable penetrance has been suggested in individual cases. Local lymphatic congestion, recurrent inflammation, and prolapse of orbital fat tissue are discussed as possible causes.

Recurrent swelling of the upper eyelids (blepharochalasis) caused by prolapse of orbital fat tissue and atrophy of the subcutaneous connective tissue are characteristic. A double lip (often upper lip > lower lip) develops due to a hyperplastic mucosal plica in the pars intermedia of the lip. In approximately 10–50% of cases, euthyroid goiter is associated.

The diagnosis is made clinically and is based on the typical combination of eyelid and lip changes. Medical history and imaging (e.g., MRI for surgical planning) can be helpful. Genetic testing is not currently established.

Upper eyelids (blepharochalasis) and lips (usually upper lip). Less commonly, the lower lip.

Repeated episodic eyelid swelling without pain or systemic symptoms. Over time, laxity of the eyelid skin and development of a double lip.

Histologically, fibroelastotic changes with reduced elastic fiber density and atrophy of the subcutaneous tissue are observed. No specific immunohistological markers have been established.

Functional and cosmetic impairments. Psychosocial stress. No malignant degeneration described.

No known preventive measures due to the unclear etiology.

Benign but chronic and recurrent course. Cosmetically disturbing. After surgical correction, long-term results are usually good with no recurrence.

Surgical-aesthetic correction in stable stages of the disease. Blepharoplasty for blepharochalasis; excision of the hyperplastic mucosa for double eyelids. Thyroid scintigraphy recommended if goiter is suspected.

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