FaCD Online Syndrome Fact Sheet

Last updated: 23 Jun 2008

Name: Cartilage-Hair Hypoplasia

Synonym: CHH, Metaphyseal Dysplasia/Chondrodysplasia McKusick type

Mode of Inheritance: AR

Genes

RMRP, mapped to 9p21-p12

Tumor features

non-Hodgkin lymphoma
skin cancer, basal cell

Tumor features (possible)

Hodgkin disease (Hodgkin's lymphoma)

Non-tumor features

anemia
immunodeficiency
neutropenia
short stature
skeletal dysplasia

Comment

Patients have a type of skeletal dysplasia and diminished cellular immune response. Although an analysis of non-Amish CHH cases had not revealed an increased cancer risk[1], a large Finnish study demonstrated a significant increase in risk (SIR 6.9, 95% c.i. 2.3-16)[2], mainly due to NHL (SIR 90, 95% c.i. 18-264)[2]. Basal cell carcinoma risk was increased as well (SIR 35, 95% c.i. 7.7-102)[2]. Whether these percentages apply to the non-Finnish population is presently unclear. However, reports of lymphomas and basal cell cancer in non-Finnish CCH patients have been published[3-6] and increased risk to develop NHL is a feature of primary immunodeficiencies in general.

References

[1] van der Burgt I, Haraldsson A, Oosterwijk JC, van Essen AJ, Weemaes C, Hamel B. Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. American journal of medical genetics 1991; 41(3):371-80.
[2] Mäkitie O, Pukkala E, Teppo L, Kaitila I. Increased incidence of cancer in patients with cartilage-hair hypoplasia. The Journal of pediatrics 1999; 134(3):315-8.
[3] Torkzad MR, Hjalmar V, Blomqvist L. Non-Hodgkin's lymphoma in McKusick syndrome. A case report. Acta radiologica 2002; 43(4):415-8.
[4] Gorlin RJ. Cartilage-hair-hypoplasia and Hodgkin disease. American journal of medical genetics 1992; 44(4):539.
[5] Roberts MA, Arnold RM. Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report. Military medicine 1984; 149(5):280-1.
[6] Eisner JM, Russell M. Cartilage hair hypoplasia and multiple basal cell carcinomas. Journal of the American Academy of Dermatology 2006; 54(2 Suppl):S8-10.