Osteochondrodysplasia with hypertrichosis Q77.-

Autosomal recessive inherited skeletal dysplasia and hypertrichosis in macroscopic neonates (Robertson SP et al.1999).

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; Cooper PE et al. 2015).

Rare disease (<50 cases), mostly sporadic, more rarely familial (autosomal dominant inheritance) cases 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).

Further detectable are dysplastic skeletal changes (narrow thorax, broad ribs, platyspondylia, coxa valga, hypoplastic pubes, hypoplastic ischium, osteopenia), rough facial features, cardiomegaly (Lazalde B et al. 2000), persistent ductus arteriosus and aortic valve stenosis. Gingival hyperplasia forms at the time of eruption of the deciduous teeth and can lead to chewing, speech and respiratory disorders if severe (Balaji P et al. 2017). In addition, there is oligophrenia and other neurological disorders (dilated and tortuous cerebral vessels) (Leon Guerrero CR et al. 2016).

The treatment of the Cantú syndrome is primarily surgical and mainly affects patients with a ductus arteriosus.

1. Balaji P et al (2017) Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. Indian J Dent Res 28:457-460.
2. Cooper PE et al (2015) Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. J gene Physiol 146:527-540.
3. Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
4. Garcia-Cruz D et al (1997) Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. At J Med Genet 69:138-151.
5. Lazalde B et al(2000) Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). At J Med Genet 94:421-427.
6. Leon Guerrero CR et al(2016) Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. Neurology 87:270-276.
7. Naritomi K (2001) Osteochondrodysplasia with hypertrichosis. Ryoikibetsu Shokogun Shirizu 34 Pt 2):403-404.
8. Robertson SP et al (1999) Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. At J Med Genet 85:395-402.