Epithelioid combined nevus in a Caucasian boy with no evidence of Carney complex

JEADV 2006, 20, 1328–1399 © 2006 European Academy of Dermatology and Venereology 1391 Upper lip and eyelid oedema usually appear at about the same time, and in more than 80% of cases the condition manifests itself before the age of 20. Even though euthyroid or non-toxic goiter is considered an important clinical finding of the syndrome, it is thought to be present in less than 10% of cases and may appear many years after eyelid and lip involvement. Eventually the oedema results in eyelid laxity, which explains the name of the condition, and occasionally causes cosmetic and visual impairment. Progression of the disease can result in prolapse of the periorbitary fat and lacrimal glands, as well as blepharoptosis. In some cases the alteration to the lips can become a cosmetic handicap. The treatment of choice is simple or extensive blepharoplasty for correction of the blefarochalasis and transverse elliptic excision of both labial ends to correct the duplication of the labial folds in the severe forms of the disease. Recognition of the characteristic features of this syndrome will prevent several misdiagnoses, including hereditary angioedema, early dermatochalasis, acquired cutis laxa and variants of granulomatous cheilitis. Equally, early diagnosis of this unusual entity will prevent unnecessary tests and delays, and allow discussion of the condition with patients and relatives, and prompt scheduling of the appropriate surgical treatment if required.