Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle cramps of severe intensity, and acral hypertrophy/enlargement.[1][2][3] Only 2 cases have been reported in medical literature.
| Acanthosis nigricans-muscle cramps-acral enlargement syndrome | |
|---|---|
| Other names | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement |
 | |
| Specialty | Medical genetics |
| Symptoms | Kidney enlargement, localized cutaneous hyperpigmentation, insulin resistance, muscle cramps, and polycystic ovary syndrome (in women) |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Autosomal recessive inheritance |
| Prevention | none |
| Medication | Dilantin |
| Prognosis | Good to Ok |
| Frequency | very rare, only 2 cases known to medical literature |
It was first discovered when Jeffrey Flier and his colleagues described two siblings of the opposite sex with the symptoms mentioned above. (plus: large, chunky hands), the sister had virilized polycystic ovaries.[4] After being treated with dilantin, the cramps' severity lowered and the brother's insulin resistance also lowered.[5][6] The inheritance pattern of this disorder is thought to be autosomal recessive.[7]
References
edit- ^ "Acanthosis nigricans muscle cramps acral enlargement — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acanthosis nigricans insulin resistance muscle cramps acral enlargement syndrome". www.orpha.net.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (Concept Id: C1860215) - MedGen — NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
- ^ Flier, Jeffrey S.; Young, James B.; Landsberg, Lewis (1980-10-23). "Familial Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy, and Muscle Cramps". New England Journal of Medicine. 303 (17): 970–973. doi:10.1056/NEJM198010233031704. ISSN 0028-4793. PMID 6997748.
- ^ "OMIM Entry - 200170 - ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT". omim.org. Retrieved 2022-05-21.
- ^ Flier, J. S.; Young, J. B.; Landsberg, L. (1980-10-23). "Familial insulin resistance with acanthosis nigricans, acral hypertrophy, and muscle cramps". The New England Journal of Medicine. 303 (17): 970–973. doi:10.1056/NEJM198010233031704. ISSN 0028-4793. PMID 6997748.
- ^ "Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (Concept Id: C4305258) - MedGen — NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
External links
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