Hyperpigmentation and atrophy in folds as cutaneous manifestation in a case of mitochondrial myopathy

Dermatol Online J. 2015 May 18;21(5):13030/qt15n4f4z4.


Mitochondrial myopathies are inborn metabolism defect diseases manifested by symptoms reflecting failure of the final step in the mitochondrial respiratory chain. Clinical expression of these conditions can vary widely, but typically includes organ systems with a high energy demand, such as striated muscle, myocardium, and nervous and liver tissues. In contrast, cutaneous manifestations are rare and are non-specific, most commonly presenting as pigmentation disorders. In this case report, we present a case of Alpers syndrome accompanied by hyperpigmentation and atrophy in skin folds.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Atrophy / diagnosis
  • Atrophy / etiology
  • Diagnosis, Differential
  • Humans
  • Hyperpigmentation / diagnosis
  • Hyperpigmentation / etiology*
  • Infant
  • Male
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diagnosis
  • Muscle, Skeletal / pathology
  • Skin / pathology*