Westerhof–Beemer–Cormane syndrome
Westerhof–Beemer–Cormane syndrome is a rare genetic disorder characterized by a variety of physical abnormalities. It was first described by Dutch dermatologists Westerhof, Beemer, and Cormane in 1984.
Symptoms and Signs[edit | edit source]
The syndrome is characterized by a number of symptoms, including hyperpigmentation (darkening of the skin), hypotrichosis (reduced hair density), and onychodystrophy (abnormal nail growth). Other symptoms may include ectropion (outward turning of the eyelid), lipodystrophy (abnormal distribution of fat in the body), and diabetes mellitus.
Causes[edit | edit source]
Westerhof–Beemer–Cormane syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. The exact genetic cause of the syndrome is currently unknown, but it is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the abnormal gene, one from each parent, in order to develop the syndrome.
Diagnosis[edit | edit source]
Diagnosis of Westerhof–Beemer–Cormane syndrome is typically based on the presence of the characteristic physical symptoms. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic abnormality.
Treatment[edit | edit source]
There is currently no cure for Westerhof–Beemer–Cormane syndrome. Treatment is typically focused on managing the symptoms and improving the individual's quality of life. This may include medications to manage diabetes, skin treatments to manage hyperpigmentation and hypotrichosis, and surgical interventions to correct ectropion and lipodystrophy.
See Also[edit | edit source]
- Genetic disorder
- Hyperpigmentation
- Hypotrichosis
- Onychodystrophy
- Ectropion
- Lipodystrophy
- Diabetes mellitus
- Autosomal recessive
NIH genetic and rare disease info[edit source]
Westerhof–Beemer–Cormane syndrome is a rare disease.
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