Crouzon syndrome in association with acanthosis nigricans
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Abstract:
Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.
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Cutaneous features of Crouzon syndrome with acanthosis nigricans.
IMPORTANCE Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described. OBSERVATIONS We report 6 cases and summarize the existing literature with regard to the cutaneous manifestat...
full textSurgical treatment for eyelid deformity in Crouzon syndrome associated with acanthosis nigricans: case report.
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. 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. Recen...
full textA recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mu...
full text[Acanthosis nigricans].
Acanthosis nigricans is thickened, velvety, hyperpigmented skin associated with a variety of endocrine disorders, malignancies and medications.
full textHyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
Introduction. Female hyperandrogenism is a frequent motive of consultation. It is revealed by hirsutism, acne or seborrhea, and disorders in menstruation cycle combined or not with virilisation signs. Several etiologies are incriminated but the hyperandrogenism-insulin resistance-acanthosis nigricans syndrome is rare. Observation. A 20-year-old girl, having had a five-year-old secondary amenorr...
full textCrouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed by molecular testing.
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Journal title
volume 13 issue 4
pages 139- 141
publication date 2010-12-01
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