New findings reported from L. Arnaud-López and co-authors describe advances in acanthosis nigricans
2007 NOV 20 -- Investigators publish new data in the report 'Crouzon with acanthosis nigricans. Further delineation of the syndrome.' "Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestations, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, which are unusual in individuals with classic Crouzon syndrome, are reported in these patients," scientists writing in the journal Clinical Genetics report. "The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. We describe two unrelated patients showing this mutation and compare their clinical features with those of other patients with CAN reported in the literature. In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed. Vertebral anomalies and conductive hearing loss were present with less frequency," wrote L. Arnaud-López and colleagues, . The researchers concluded: "Some characteristics considered typical of this condition (jaw cementomas, acanthomas and finger abnormalities) were absent in most of the patients." Arnaud-López and colleagues published their study in Clinical Genetics (Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clinical Genetics, 2007;72(5):405-10). Additional information can be obtained by contacting L. Arnaud-López, Centro de Investigacion Biomedica de Occidente, Division de Genetica, Instituto Mexicano del Seguro Social, Guadalajara, Mexico. The publisher of the journal Clinical Genetics can be contacted at: Blackwell Munksgaard, 35 Norre Sogade, PO Box 2148, DK-1016 Copenhagen, Denmark. Keywords: Mexico, Guadalajara, Acanthosis Nigricans, Craniofacial, Crouzon Syndrome, Genetics. This article was prepared by Science Letter editors from staff and other reports. Copyright 2007, Science Letter via NewsRx.com.
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