title: [Cartilage-hair hypoplasia--much more than growth problem].
abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia caused by mutations in the RMRP gene encoding the RNA component of a mitochondrial ribonuclease complex. CHH is particularly prevalent among the Old Order Amish and the Finns. CHH is characterized by severe short-limbed short stature, sparse hair, defective immunity involving both cellular and humoral components, and defective erytropoiesis. Cancer incidence is 7-fold higher in patients with CHH as compared with the normal population. Especially non-Hodgkin lymphoma and basal cell carcinoma are frequent. Patients with CHH need close follow-up also in adulthood.
authors: HYKS:n lasten ja nuorten sairaala, HUS.
authors: Mervi
authors: M
authors: Taskinen
authors: Outi
authors: O
authors: Mäkitie
mesh_terms: D002280:Basal Cell Carcinoma / Q000453:epidemiology; D002356:Cartilage / Q000002:abnormalities*; D005387:Finland / Q000453:epidemiology; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D015994:Incidence; D008228:Lymphoma, Non-Hodgkin / Q000453:epidemiology; D010009:Osteochondrodysplasias / Q000453:epidemiology / Q000503:physiopathology*; D015995:Prevalence