Hypertrichosis with osteochondrodysplasia of the cantu type Q87.3

Rare disease (<30 cases), mostly sporadic, less frequently occurring cases in families (autosomal dominant inheritance), dermatologically characterized by congenital diffuse hypertrichosis (head and body hair), punctate palmoplantar keratosis and lentiginosis (lentigines in the face, forearms, back of hands and feet). There are also: dysmorphia such as macrocephaly, coarse facial features with dense eyebrows, prominent supraorbital ridges with a broad bridge of the nose, widened philtrum, prominent lips and macroglossia. Other symptoms described are osteochondrodysplasia, cardiomegaly and dysmorphia.

Prevalence: <1: 1 000 000

A mutation in the KCNJ8 gene and a "dominant missense mutation" in the ABCC9 gene were detected. So far 13 missense mutations of this gene have been detected. The ABCC9 gene codes for the sulonylurea receptor, which is responsible for the formation of ATP-sensitive potassium channels. These are expressed in the smooth, skeletal and cardiac muscles (Frank et al. 2013).

1 year of age

1. Brownstein CA et al (2013) Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet 56:678-682
2. Cooper PE et al (2014) Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum mutation 35:809-813
3. Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
4. Harakalova M et al (2012) Dominant missense mutations in ABCC9 cause Cantú syndrome.Nat Genet 44:793-796