Combating Cancer Predisposition in Association With Idiopathic Immune Deficiency: A Recurrent Nodal and Cutaneous T-Cell Lymphoproliferative Disease in a Patient With Cartilage-Hair Hypoplasia

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

“…Our patient clearly demonstrated one of the hallmarks of severely impaired T cell immunity due to RMRP mutation, the poor handling of the herpes family of viruses, with development of life-threatening EBV-related LPD [1,5]. The only curative therapy is allogeneic HSCT [7], highlighted by the 'natural history' observed during the long-term follow up of a child diagnosed with CHH at the age 8 years, who at the age 32 years presented with relapsing EBV-related anaplastic large cell lymphoma and granulomatous lymphomatoid papulosis, both conditions being part of the spectrum of primary cutaneous CD30+ T cell LPD, and who died 14 years after the primary diagnosis of lymphoma in spite of several courses of chemotherapy [18]. A recent insight in the role of dysregulated long non-coding RNAs in cancer initiation and progression, in the case of RMRP specifically related to leukemia and lymphoma [19] further expands our understanding of the well recognised increased incidence of cancer in patients with CHH, particularly non-Hodgkin lymphoma and basal cell carcinoma [20].…”

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

“…Nevertheless, patients with ataxia telangiectasia (Attarbaschi et al, ; Seidemann et al, ; Suarez et al, ), Nijmegen breakage syndrome (NBN, gene product is involved in DNA repair; MIM 251260) (Attarbaschi et al, ; Seidemann et al, ), and CMMRD (Attarbaschi et al, ; Wimmer & Kratz, ) have a dramatically increased risk of developing NHL. NHL is also associated with a broad range of immunodeficiency syndromes, which is beyond the scope of this review (Attarbaschi et al, ; Bax et al, ; Du et al, ; Kracker et al, ; Moshous et al, ; Taskinen et al, ; Tran et al, ). Similar to NHL, HL occurs mainly in the absence of known and apparent genetic syndromes, but there is an association with ataxia telangiectasia (Suarez et al, ), Nijmegen breakage syndrome (Wolska‐Kusnierz et al, ), and other immunodeficiency syndromes (Schuetz et al, ).…”

Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis

“…Mortality is high in patients with CHH because of their defective immunity and frequent infections. Patients with CHH also have a seven‐fold increased risk of cancer . The most frequent cancer diagnoses have been non‐Hodgkin lymphoma of B‐cell origin and basal cell carcinoma …”

“…Cartilage–hair hypoplasia (CHH) is a rare autosomal recessive metaphyseal chondrodysplasia caused by mutations of the untranslated RMRP gene, which encodes for the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease. CHH is characterized by short stature with other skeletal abnormalities, fine sparse hair, and abnormal immune system function (immune deficiency) that can lead to recurrent infections . Granulomatous inflammation is described in patients with various forms of primary immunodeficiencies including CHH; however, lymphomatoid granulomatosis (LG) has not been reported in patients with CHH.…”