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Rabson-Mendenhall syndrome.
Bashir Ahamed Parveen1, Ramasamy Sindhuja
1Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India. bparveen_akbar@yahoo.co.in
International Journal of Dermatology
|August 23, 2008
Summary
Rabson-Mendenhall syndrome is a rare genetic disorder causing severe insulin resistance. This case report details a male patient exhibiting all characteristic features of this condition.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Rabson-Mendenhall syndrome is an extremely rare autosomal recessive disorder.
- It is characterized by severe insulin resistance and a distinct constellation of clinical features.
Observation:
- The patient presented with classic symptoms including growth retardation, dysmorphic features, and acanthosis nigricans.
- Additional findings included lack of subcutaneous fat, enlarged genitalia, hypertrichosis, and premature, dysplastic dentition.
- Metabolic derangements such as paradoxical fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia were noted.
Findings:
- The male patient exhibited all documented clinical and biochemical hallmarks of Rabson-Mendenhall syndrome.
- The protracted disease course eventually led to the development of ketoacidosis.
Implications:
- This case reinforces the diagnostic criteria for Rabson-Mendenhall syndrome.
- Further research into the genetic basis and potential therapeutic targets for this rare disorder is warranted.
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