Acanthosis nigricans-muscle cramps-acral enlargement syndrome

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Acanthosis nigricans-muscle cramps-acral enlargement syndrome
Other namesAcanthosis nigricans-insulin resistance-muscle cramps-acral enlargement
Dilantin
PrognosisGood to Ok
Frequencyvery rare, only 2 cases known to medical literature

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.

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

  1. ^ "Acanthosis nigricans muscle cramps acral enlargement — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
  2. ^ 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)
  3. ^ "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (Concept Id: C1860215) - MedGen — NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
  4. PMID 6997748
    .
  5. ^ "OMIM Entry - 200170 - ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT". omim.org. Retrieved 2022-05-21.
  6. PMID 6997748
    .
  7. ^ "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.

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