Crouzon syndrome with acanthosis nigricans: a case-based update.
BACKGROUND
Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing.


METHODS
As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected.


CONCLUSIONS
Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families.
Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015 Paris, France. federico.dirocco@nck.aphp.fr
Federico
F
Di Rocco
Corinne
C
Collet
Laurence
L
Legeai-Mallet
Eric
E
Arnaud
Martine
M
Le Merrer
Smail
S
Hadj-Rabia
Dominique
D
Renier
D000052:Acanthosis Nigricans / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
D051498:Receptor, Fibroblast Growth Factor, Type 3