Related Experiment Video
Updated: Jun 15, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
Sheetal Sharda1, Inusha Panigrahi, Kirti Gupta
1Genetics and Metabolic Unit, Advanced Pediatric Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India. sheetalsharda@hotmail.com
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.
Related Concept Videos
Acne Infection
Pleiotropy
Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Cushing Syndrome II: Pathophysiology
Accessory Structures of the Skin: Sebaceous Glands
These glands that produce the oils on the skin and hair are holocrine glands. The mature...
Cushing Syndrome I: Introduction

