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Ascher syndrome
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Ascher syndrome

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Contributors: Sam Logan MA, Keith Morley MD, Susan Burgin MD
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Synopsis

Ascher syndrome is classically described as a triad of double upper lip, blepharochalasis, and nontoxic enlarged thyroid of unknown etiology. This condition is rare, presents most often before the age of 20, and is often misdiagnosed. The inheritance pattern is uncertain, although autosomal dominant transmission has been speculated.

Double lip is secondary to labial mucosal hyperplasia and persistence of the horizontal sulcus of the outer cutaneous lip and inner mucosal lip. In most cases, this finding is limited to the upper lip, but rarely the lower lip may be affected.

Blepharochalasis describes lid laxity and sagging formed from repeated episodes of painless edema of the eyelids; it may impede eyesight in severe cases.

Nontoxic thyroid enlargement is found in 10%-50% of cases and is nonessential to the diagnosis. When present, it is not accompanied by abnormal thyroid levels.

For more information, see OMIM.

Codes

ICD10CM:
E07.89 – Other specified disorders of thyroid

SNOMEDCT:
28599006 – Ascher's syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Congenital or acquired double lip – May occur without blepharochalasis or nontoxic enlarged thyroid. The acquired form is typically the result of habitual trauma.
  • Isolated blepharochalasis – Recurrent episodes of nonerythematous edema of the eyelids resulting in ptosis with onset in childhood may occur outside of the context of Ascher syndrome.
  • Dermatochalasis – A loss of elasticity of the skin leading to eyelid droop, which may obstruct vision. Most often seen in elderly patients.
  • Hereditary angioedema – May present with episodic facial swelling but often involves other areas of the body including the limbs and airway.
  • Orofacial granulomatosis – Characterized by persistent lip swelling related to chronic noncaseating granulomatous inflammation.
  • Melkersson-Rosenthal syndrome – Triad of orofacial swelling, facial nerve palsy, and furrowed tongue. Like Ascher syndrome, all components of the triad are not necessarily present. Unlike Ascher syndrome, this has been shown to respond to steroid treatment.
  • Cutis laxa – Disorder of hypoelastic, loose skin with initial presentation often on the face before progressing caudally. Most commonly presents in adulthood; however, variants may also present in children.
  • Crohn disease – May initially present with cutaneous manifestations such as lip or genital swelling.

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References

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Last Reviewed: 01/16/2019
Last Updated: 01/16/2019
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Ascher syndrome
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Ascher syndrome : Eyelid edema, Eyelid ptosis, Present at birth, Lip edema, Enlarged thyroid
Clinical image of Ascher syndrome
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