A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Abstract

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left hand were noted. Insulin resistance and impaired glucose tolerance were found. Sequence analysis of the INSR in the patient revealed c.3529+5G>A mutation in homozygous state. RMS should be suspected in a patient with characteristic physical features and insulin resistance.

• Authors: Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, Sezer Acar, Ayhan Abacı, Ece Böber, Korcan Demir
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 9 Issue 4 Pg. 371-374 (Dec 15 2017) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 28663160 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antigens, CD
• INSR protein, human
• Receptor, Insulin

Topics

• Acanthosis Nigricans (genetics)
• Antigens, CD (genetics)
• Child, Preschool
• Donohue Syndrome (genetics)
• Female
• Humans
• Mutation, Missense
• Receptor, Insulin (genetics)
• Severity of Illness Index