Crouzon Syndrome with Acanthosis Nigricans: Case Report and Mutational Analysis-Reference-Cited by-同舟云学术

Crouzon Syndrome with Acanthosis Nigricans: Case Report and Mutational Analysis

Published:2000-01 Issue:1 Volume:37 Page:78-82
ISSN:1055-6656
Container-title:The Cleft Palate-Craniofacial Journal
language:en
Short-container-title:The Cleft Palate-Craniofacial Journal

Author:

Nagase Takashi¹,Nagase Miki²,Hirose Shigehisa³,Ohmori Kitaro¹

Affiliation:

1. Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Tokyo;

2. Department of Internal Medicine, University of Tokyo School of Medicine, Tokyo;

3. Department of Biological Sciences, Tokyo Institute of Technology, Yokohama, Japan.

Abstract

Objective To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation. Methods DNA analysis and sequencing of the FGFR3gene were performed. Results The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation. Examination of a skin biopsy specimen revealed the typical findings of acanthosis nigricans. Genetic analysis revealed the Ala391Glu mutation in one FGFR3 gene. Conclusions Crouzon syndrome with acanthosis nigricans is a distinct clinical entity different from classic Crouzon syndrome.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1597/1545-1569_2000_037_0078_cswanc_2.3.co_2

Reference32 articles.

1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

3. Crouzonʼs Syndrome Associated with Acanthosis Nigricans: Ramifications for the Craniofacial Surgeon

4. The Necessity of Distinguishing Four Types of Acanthosis Nigricans

5. Crouzon Disease with Acanthosis Nigricans and Melanocytic Nevi

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1. Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit;Journal of Craniofacial Surgery;2024-03-20

2. Crouzon syndrome with acanthosis nigricans: A case report and literature review;Dermatology Reports;2022-12-23

3. Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series;Clinical Pediatrics;2021-01-22

4. Crouzon with Acanthosis Nigricans and Odontogenic Tumors;The Cleft Palate-Craniofacial Journal;2017-12-14

5. Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome;Journal of Perinatology;2014-01-30