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August 2003

A Young Boy With Lip Swelling and Wrinkled Eyelids—Diagnosis

Author Affiliations
 

MICHAEL E.MINGMD

Arch Dermatol. 2003;139(8):1075-1080. doi:10.1001/archderm.139.8.1075-a

Histopathologic examination of the biopsy specimen from the patient's lower lip showed mildly hyperplastic epithelium and numerous hyperplastic salivary gland tissues in the subepithelium along with chronic inflammatory infiltrate. On clinical examination, the patient did not have thyroid enlargement, and laboratory tests revealed normal thyroid hormone levels.

Ascher syndrome is a rare entity characterized by double lip with blepharochalasis with or without nontoxic goiter. Ascher1 originally described the features of this complete syndrome in 1920, and only 58 subsequent cases of this rare entity have been reported.2 The etiology of Ascher syndrome is unclear. Most cases appear to be sporadic, although autosomal dominant inheritance has been reported.3,4 Trauma and hormonal and allergic dysfunctions have been suggested as etiologic factors.4,5 In 80% of cases, lip swelling appeared before 20 years of age.3 During normal fetal development, the outer portion of the lip is smooth and similar to skin and the inner portion is villous and similar to the mucosa. The furrow dividing the double lip represents an exaggerated boundary line between these 2 portions.6 Patients with Ascher syndrome may be misdiagnosed as having angioedema, cheilitis granulomatosa, cheilitis glandularis, Crohn disease, sarcoidosis, vascular malformations, leprosy, or tuberculosis.7

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