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A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
Pediatr Dermatol. 2010 Jan-Feb; 27(1):43-7.PD

Abstract

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.

Authors+Show Affiliations

Genetics and Metabolic Unit, Advanced Pediatric Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India. sheetalsharda@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20199409

Citation

Sharda, Sheetal, et al. "A Newborn With Acanthosis Nigricans: Can It Be Crouzon Syndrome With Acanthosis Nigricans?" Pediatric Dermatology, vol. 27, no. 1, 2010, pp. 43-7.
Sharda S, Panigrahi I, Gupta K, et al. A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? Pediatr Dermatol. 2010;27(1):43-7.
Sharda, S., Panigrahi, I., Gupta, K., Singhi, S., & Kumar, R. (2010). A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? Pediatric Dermatology, 27(1), 43-7. https://doi.org/10.1111/j.1525-1470.2009.00871.x
Sharda S, et al. A Newborn With Acanthosis Nigricans: Can It Be Crouzon Syndrome With Acanthosis Nigricans. Pediatr Dermatol. 2010 Jan-Feb;27(1):43-7. PubMed PMID: 20199409.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? AU - Sharda,Sheetal, AU - Panigrahi,Inusha, AU - Gupta,Kirti, AU - Singhi,Sunit, AU - Kumar,Rakesh, PY - 2010/3/5/entrez PY - 2010/3/5/pubmed PY - 2010/6/3/medline SP - 43 EP - 7 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 27 IS - 1 N2 - 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. SN - 1525-1470 UR - https://wwww.unboundmedicine.com/medline/citation/20199409/A_newborn_with_acanthosis_nigricans:_can_it_be_Crouzon_syndrome_with_acanthosis_nigricans L2 - https://doi.org/10.1111/j.1525-1470.2009.00871.x DB - PRIME DP - Unbound Medicine ER -