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Symptoms Involving The Skin and Hair

Like other organs, skin can show manifestations that are attributable to mitochondrial disorders and should be considered part of the broad spectrum of presenting symptoms (Birch-Machin, 2000) although the significance and incidence remain unclear (Bodemer, 1999).

Patients with autonomic dysfunction (Zelnik, 1996) may also show spontaneous pallor/flushing/mottling that is inappropriate or which comes on without a clear triggering factor. Diminished sweating is noted. Patients also describe a lack of sensory correlation between the ambient temperature and the way their skin feels (skin feels cold to the touch in a warm environment, or feels very hot to the touch without fever). Other autonomic symptoms include tachy- and bradycardia, dizziness, and orthostatic changes in heart rate and blood pressure, heat or cold intolerance, abnormalities in sweating, or abnormal gut motility or bladder function.

Some patients also develop the acute manifestations characteristic of Raynaud syndrome with color changes in the fingers or hands, pain, and sometimes peeling of the skin. Erythromelalgia cans show similar features and may have an autonomic etiology (Davis, 2002). Triggers include temperature changes (heat or cold), activity, emotional distress, infection, underhydration, and general fatigue; however, they can also occur spontaneously without any particular triggering factor. Acrocyanosis may occur as an autonomic phenomenon, perhaps due to inadequate oxygenation and blood flow secondary to spasm or malfunction of the blood vessels (Bodemer, 1999).

Some of these changes may be uncomfortable or distressing but in themselves do not cause acute problems. For example, the mottling which may be prominent does not necessarily reflect a problem with circulation or perfusion.

Chronic dry skin may reflect a hypothyroid state which requires hormonal supplementation. Similarly, generalized hyperpigmentation might represent progressive adrenal dysfunction, and jaundice a feature of progressive liver disease.

These include alopecia (gradual or rapid in onset), hair shaft abnormalities, and hypertrichosis in unusual locations (Bodemer, 1999).

A number of mitochondrial DNA mutations have been noted in individuals with multiple systemic lipomas, presenting around the neck, shoulders and trunk. As many as 30% also have neurological findings that can include cerebellar atrophy, cerebellar ataxia, hyperreflexia, or pyramidal signs (Finsterer, 2006).


1. Determine what symptoms are associated with the skin manifestations and whether or not there are any trigger factors.

2. If mottling is present, assess oxygen saturation to make sure there is not a cardiovascular etiology to the symptom.

3. Assess hydration.

4. With dry skin, consider hypothyroidism. With hyperpigmentation, rule out adrenal dysfunction.


1. In many cases, changes in skin color are generally benign and just another symptom of the underlying disease (e.g., mottling of the skin when the patient is otherwise well or having no acute symptoms). Sometimes, the skin reflects the stressor that is present - pallor or mottling with fatigue. Addressing the stressor will ameliorate the skin symptoms; no treatment targeting the skin is needed. Avoidance or prevention of the triggering factor can help reduce the frequency or severity of the symptom.

2. When the patient is underhydrated, often with increased fatigue, s/he may also be quite mottled or pale. Providing extra fluid orally (or enterally) or intravenously can led to a rapid clinical improvement. See DEHYDRATION.

3. With dry skin, obtain thyroid functions.

4. If the patient is bronzed and has no history of adrenal dysfunction, draw a fasting morning cortisol and ACTH; if abnormal, refer to an endocrinologist immediately.

5. If the patient is jaundiced and has no history of liver disease draw liver functions; if abnormal, refer to a gastroenterologist.

6. With unusual skin manifestations, or for help in skin care management, consider referral to a dermatologist.


Bodemer C, Rotig A, Rustin P, et al. Hair and skin disorders as signs of mitochondrial disease. Pediatrics 1999;103(2);428-33.

Birch-Machin MA. Mitochondria and skin disease. Clin Exp Dermatol 2000;25(2):141-6.

Davis MD, Sandroni P, Rooke T, Low P. Arch Derm 2002;139(10):1337-43.

Flynn MK, Wee SA, Lane AT. Skin manifestations of mitochondrial DNA syndromes: Case report and review. J Am Acad Dermatol 1998;39(5Pt2):819-23.

Casali C, Fabrizi GM, Santorelli FM, et al. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. Neurology 1999;52(5):1103-4.

Finsterer J. Central nervous system manifestations of mitochondrial disease. Acta Neurol Scand 2006;114(4): 217-38.

Zelnik N, Axelrod FB, Leschinsky E, et al. Mitochondrrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 1996;14:251-4.

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