SURGICAL TREATMENT FOR EYELID DEFORMITY IN CROUZON SYNDROME ASSOCIATED WITH ACANTHOSIS NIGRICANS: CASE REPORT

Abstract

The combination of Crouzon syndrome with acanthosis nigricans is unusual. The incidence of this combination is still uncertain, and there are only 30 cases reported in the medical literature. 1–3 Crouzon syndrome is caused by mutation of the gene FGFR3 (fibroblast growth factor receptor 3). In this gene, other mutations can cause a kind of nanism that is lethal during the first weeks of life. Recent biomolecular studies have indicated that the association of Crouzon syndrome with acanthosis nigricans should be considered as a different pathology, as opposed to Crouzon syndrome in isolation, because acanthosis nigricans would originate from a different gene and from a diverse chromosome mutation. 4 Crouzon syndrome is an autosomal dominant disease that involves craniosynostosis, exophthalmia, hypoplasia of the middle third of the face, and irregularities of dental occlusion. Its incidence is about 1 in 300,000 live births. Acanthosis nigricans is a rare illness related to the skin. It is characterized by hyperplasia and hypertrophy, with hyperkeratosis and slight hyperpigmentation on the inner skin layer, without melanocytic hyperplasia. The epidermis presents as a wavy surface (Figure 2). It can affect the neck, armpits, normally folding areas, and the orbital region. The etiology of acanthosis nigricans is variable and can be one of the following: - Hereditary with dominant autosomal transmission. - Associated with genetic abnormalities or endocrine dis