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Hypertrichosis in patients with SURF1 mutations
Elsebet Ostergaard1, Irena Bradinova, Susanne Holst Ravn
1John F. Kennedy Institute, Glostrup, Denmark. els@kennedy.dk
American Journal of Medical Genetics. Part A
|October 14, 2005
Summary
SURF1 mutations can cause Leigh syndrome and hypertrichosis. This study suggests clinicians consider Leigh syndrome in patients with hypertrichosis and other symptoms like psychomotor retardation.
Area of Science:
- Genetics and rare diseases
- Neurology
- Dermatology
Background:
- Leigh syndrome is a severe multisystem disorder affecting the central nervous system.
- SURF1 gene mutations are a known cause of Leigh syndrome.
- Hypertrichosis is excessive hair growth, not typically associated with Leigh syndrome.
Observation:
- Three patients with SURF1 mutations presented with Leigh syndrome and non-congenital hypertrichosis.
- Hypertrichosis was primarily observed on the extremities and forehead.
- A literature review identified five additional patients with SURF1 mutations, Leigh syndrome, and hypertrichosis.
Findings:
- Hypertrichosis often preceded the diagnosis of Leigh syndrome in affected individuals.
- The co-occurrence of hypertrichosis and Leigh syndrome due to SURF1 mutations is a recurring pattern.
- This suggests a potential link between SURF1 mutations and the development of hypertrichosis.
Implications:
- Clinicians should consider Leigh syndrome in patients presenting with hypertrichosis, especially when accompanied by psychomotor retardation or other nonspecific symptoms.
- Early recognition of this association may lead to timely diagnosis and management of Leigh syndrome.
- This finding expands the known clinical spectrum associated with SURF1 mutations and Leigh syndrome.