Cartilage-hair hypoplasia (CHH) is caused by variants in the RMRP gene, which encodes the untranslated RNA molecule of mitochondrial RNA-processing endoribonuclease, involved, in cell cycle regulation and telomere maintenance. CHH is an autosomal recessive syndromic immunodeficiency with skeletal dysplasia, short stature, hypotrichosis, variable degree of immune dysfunction and increased incidence of anemia, Hirschsprung’s disease and malignancy. 18-year-old male who presented from birth with steatorrhea, sometimes hematochezia. During his childhood he had repeated episodes of acute otitis media, urinary tract infections, pneumonia, pansinusitis, dacryocystitis, asthma, bronchiectasis and congenital toxoplasmosis.
In initial biometries with normal lymphocyte levels, in 2006 he started with persistent lymphopenia, as well as defects in wound healing and infections, with suspicion of non-severe combined immunodeficiency, for which gamma globulin was started with replacement dose in June 2016 as well as antibiotic prophylaxis presenting adequate clinical evolution. He also presented short stature, brachydactyly in hands and feet and shortening of the rhizomelic segment compatible with bone dysplasia.
June 2009: Leukocytes 3600 x103/μL, Lymphocytes 800 x103/μL, IgA 188 mg/dl, IgE 16 Ul/ml, IgM 56 mg/dl, IgG 983 mg/dl. June 2016: IgG 1510 mg/dl, IgA 92 mg/dl, IgM 100 mg/dl, IgE 17.9 IU/ml. He presented with abdominal pain in September 2019, a CT scan was performed which reported a left adrenal mass, after resection a pathology report of common histological type leiomyoma with hyalinization and myxoid degeneration of the adrenal gland was obtained, negative for malignancy. In August 2019 Sanger sequence of the RMRP gene reports two mutations 1) RS199476103 A/G at nucleotide 71 and 2) RS753874439 G/A at nucleotide 147, both associated with diagnosis of cartilage-hair hypoplasia.
Impaired telomere biology or chromosomal instability may contribute to the increased risk of malignancies in CHH. Currently there are no previous case reports of leiomyoma association in patients with cartilage-hair dysplasia.