[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: Mervi Taskinen, Outi Mäkitie
• Journal: Duodecim; laaketieteellinen aikakauskirja (Duodecim) Vol. 127 Issue 3 Pg. 273-9 ( 2011) ISSN: 0012-7183 [Print] Finland
• Vernacular Title: Rusto-hiushypoplasia--vaikea kasvuhäiriö ja paljon muuta.
• PMID: 21438350 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Carcinoma, Basal Cell (epidemiology)
• Cartilage (abnormalities)
• Finland (epidemiology)
• Hair (abnormalities)
• Humans
• Incidence
• Lymphoma, Non-Hodgkin (epidemiology)
• Osteochondrodysplasias (epidemiology, physiopathology)
• Prevalence