Ascher's syndrome, is a rare disorder first described in 1920.Gorlin RJ, Pindborg JJ, CohenMM.Syndromes of the head and neck, 4th ed.New York:McGraw-Hill, 1976: 500-501. It is characterized by repeated episodes of lip and eyelid

edema Edema, also spelled oedema, and also known as fluid retention, dropsy, hydropsy and swelling, is the build-up of fluid in the body's Tissue (biology), tissue. Most commonly, the legs or arms are affected. Symptoms may include skin which feels t ...

and occasionally

euthyroid The thyroid, or thyroid gland, is an endocrine gland in vertebrates. In humans it is in the neck and consists of two connected lobes. The lower two thirds of the lobes are connected by a thin band of tissue called the thyroid isthmus. The thyr ...

goiter A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre can be associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is ...

. The syndrome generally occurs within the first 20 years of life.Sanchez MR, Lee M, Moy JA et al. Ascher syndrome: a mimicker of acquired angioedema. J Am Acad Dermatol 1993;29:650–651. About 100 cases had been described by 1998.

Signs and Symptoms

Blepharochalasis Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over ...

: Recurrent episodes of swelling cause stretching and

atrophy Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy the gene to build up the organ), poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply t ...

of the upper eyelid skin. This results in the relaxation of the tarsal fold allowing tissue to slack over the

palpebral fissure The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Var ...

. In severe cases, the lower eyelid is also involved. * Double Upper Lip : Swelling causes duplication between the inner and outer parts of the upper lip. Occasionally the lower lip is involved. * Euthyroid Goiter : Occurs in 10% of cases. It is not usually associated with toxic symptoms. Goiter usually presents several years after initial eyelid and lip edema.

Diagnosis

Treatment

Cosmetic surgery Plastic surgery is a surgical specialty involving the restoration, reconstruction or alteration of the human body. It can be divided into two main categories: reconstructive surgery and cosmetic surgery. Reconstructive surgery includes craniofa ...

is generally the treatment of choice.Atzeni M, et al. Surgical correction and MR imaging of double lip in Ascher syndrome: record of a case and a review of the literature. Eur Rev Med Pharmacol Sci 2009;13:309-311.

References

External links

{{Medical resources , DiseasesDB = , ICD10 = , ICD9 = , ICDO = , OMIM = 109900 , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = , GeneReviewsName = Syndromes affecting the eye Syndromes affecting the endocrine system