A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and mandibular prognathism. The 5% of individuals with Crouzon syndrome who have pigmentary changes in the skin are said to have Crouzon syndrome with acanthosis nigricans (CAN). Choanal atresia, hydrocephalus and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears. We present a 10-hour-old newborn who presented with bilateral choanal atresia, craniosynostosis and acanthosis nigricans. Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. Of the 35 cases of CAN reported in literature till date, only one child had acanthosis nigricans at birth. This is the first case from India to have been reported with this mutation.
Sharda
Sheetal
S
Genetics and Metabolic Unit, Advanced Pediatric Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India. sheetalsharda@hotmail.com
Panigrahi
Inusha
I
Gupta
Kirti
K
Singhi
Sunit
S
Kumar
Rakesh
R
D000052:Acanthosis Nigricans / Q000150:complications* / Q000473:pathology*; D001706:Biopsy; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000473:pathology*; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000473:pathology*