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Hair and skin disorders as signs of mitochondrial disease
1Service de Dermatologie, INSERM U. 12, and Département de Pédiatrie, Hôpital Necker Enfants Malades, Paris, France.
Insights
Mitochondrial disorders can manifest with distinct skin and hair changes, including rashes and hypertrichosis. Early recognition of these dermatologic signs is crucial for timely diagnosis of mitochondriopathy.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Mitochondrial disorders are a group of inherited metabolic diseases.
- Cutaneous manifestations are often overlooked in the diagnosis of mitochondrial disorders.
Purpose of the Study:
- To investigate and compare the skin manifestations in children with mitochondrial disorders.
- To highlight the diagnostic significance of dermatologic presentations in mitochondriopathy.
Main Methods:
- A cohort of 140 children with mitochondrial disorders was examined over 10 years.
- Skin and hair characteristics were systematically evaluated.
- Metabolic screening and mitochondrial enzyme investigations confirmed diagnoses.
Main Results:
- Fourteen children (10%) exhibited specific hair and skin abnormalities.
- Manifestations included hair issues, rashes, pigmentation changes, hypertrichosis, and acrocyanosis.
- Skin findings were the primary presentation in 3 cases, with genetic analysis confirming mitochondrial involvement.
Conclusions:
- Hair and skin abnormalities, such as pigmented eruptions, are part of the mitochondrial disease spectrum.
- Physicians should consider mitochondriopathy when dermatologic lesions appear with unrelated symptoms.
Objective:
To compare and explore the skin manifestations of mitochondrial disorders in 14 children with puzzling and unexpected cutaneous presentations.
Study Design:
One hundred forty children with mitochondrial disorders who had been under observation in our hospital for the last 10 years, were carefully examined by the same physicians. Skin and hair characteristics were investigated by the same dermatologist. All the children developed an early unexplained association of symptoms. Metabolic screening for abnormal oxidative-reduction in plasma and mitochondrial enzyme investigations confirmed the diagnosis of oxidative phosphorylation disorders.
Results:
Fourteen children with mitochondrial disorders (10% of the original cohort) developed specific hair and skin abnormalities. Their cutaneous manifestations were similar, and could be classified into four categories: hair abnormalities, rashes and pigmentation disorders, hypertrichosis, and acrocyanosis. In 3 cases, skin disorders constituted the puzzling and unexpected manifestations of mitochondrial disease. Respiratory chain deficiencies in the cultured skin fibroblasts of 3 patients and heteroplasmic mitochondrial DNA rearrangement in the skin fibroblasts of 1 patient indicated that mitochondrial disorders may be expressed in the skin.
Conclusion:
Hair abnormalities and pigmented skin eruptions might belong to the broad spectrum of presenting symptoms of mitochondrial disease. The association of these dermatologic lesions with unrelated disorders should lead physicians to consider a diagnosis of mitochondriopathy as early as possible.