Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Jun;23(3):363-5.

Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome

Ahya Zaridoust  1 , Ali Rabbani, Fatemeh Sayarifard, Christian T Thiel, Nima Rezaei
Affiliations
Case Reports

Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome

Ahya Zaridoust et al. Iran J Pediatr. 2013 Jun.

Abstract

Background: Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and insulin levels.

Case presentation: Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered from diabetes mellitus type I since she was 6 years old. Hyperglycemia did not respond to age appropriate insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control. Twenty two exons of insulin receptor gene (INSR), on short arm of chromosome 19, were sequenced, but no identifiable disease causing mutation was detected.

Conclusion: Although a rare mutation within the intronic or promoter region has not been excluded in this case, further molecular studies on patients with insulin resistance syndromes associated with certain features are needed.

Keywords: Gene; Genetic Polymorphism; Hyperglycemia; Insulin Resistance Syndrome; Mutation.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Triangular face with prognathism, abnormal teeth, deep fissured large tongue and posterior cervical acanthosis nigricans
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Parveen BA, Sindhuja R. Rabson-Mendenhall syndrome. Int J Dermatol. 2008;47(8):839–41. - PubMed
    1. Moller DE, Flier JS. Insulin resistance--mechanisms, syndromes, and implications. N Engl J Med. 1991;325(13):938–48. - PubMed
    1. Bathi RJ, Parveen S, Mutalik S, et al. Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. Odontology. 2010;98(1):89–96. - PubMed
    1. Johns Hopkins University. Victor A Mckusick; Rabson-Mendenhall syndrome. No 262190: pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities. Online Mendelian Inheritance in Man (OMM). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262190. Access date: Apr 06, 1986.
    1. Thiel CT, Knebel B, Knerr I, et al. Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab. 2008;94(3):356–62. - PubMed

Publication types

LinkOut - more resources