Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

[hirschsprung disease]

We report a child with short stature since birth who was otherwise well , presenting at 2 .8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency . When previously investigated for short stature , and at the time of current investigations , she had no radiological skeletal features characteristics for cartilage hair hypoplasia , but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease ) gene mutation . Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT ) was underway , she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection , and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT . Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and /or combined ' T cell immunodeficiency of unknown origin , especially when associated with short stature and regardless of presence or absence of radiological skeletal features .