Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis

Clin Exp Dermatol. 2018 Aug;43(6):713-717. doi: 10.1111/ced.13543. Epub 2018 May 10.


Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short-stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi-allelic RMRP gene mutation. At 13 years, the patient developed an Epstein-Barr virus (EBV)-driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV-associated low-grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV-associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV-associated cutaneous malignancy in CHH.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Hair / abnormalities*
  • Herpesvirus 4, Human / isolation & purification
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / therapy
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / therapy
  • Lung / pathology*
  • Lung / virology
  • Lung Neoplasms / complications*
  • Lung Neoplasms / pathology
  • Lymphomatoid Granulomatosis / complications*
  • Lymphomatoid Granulomatosis / pathology
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / therapy
  • Primary Immunodeficiency Diseases
  • Skin Neoplasms / complications*
  • Stem Cell Transplantation

Supplementary concepts

  • Cartilage-hair hypoplasia