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      Hipoplasia cartílago-cabello. Reporte de un caso Translated title: Cartilage-hair hypoplasia. A case report

      case-report

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          Abstract

          Resumen Antecedentes: La hipoplasia cartílago-cabello es una enfermedad autosómica recesiva poco frecuente, caracterizada por condrodisplasia metafisaria y cabello fino. Puede estar acompañada de alteraciones inmunológicas en distintos grados. Caso clínico: Niña de 35 meses de edad, quien desde su nacimiento mostró restricción del crecimiento; desarrolló 11 cuadros de neumonía, síndrome de malabsorción y megacolon agangliónico, por lo que se diagnosticó hipoplasia cartílago-cabello, con expresión de inmunodeficiencia combinada no severa. Se decidió trasplante de células madre hematopoyéticas. Al momento de este informe, la paciente estaba libre de procesos infecciosos. Conclusión: La hipoplasia cartílago-cabello es un padecimiento con rasgos clínicos y distintos grados de inmunodeficiencia. Como parte del tratamiento es posible realizar trasplante de células madre hematopoyéticas.

          Translated abstract

          Abstract Background: Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees. Clinical case: The case of a 35-month-old girl is described. Since her birth, with growth restriction, she has developed pneumonia eleven times, malabsorption syndrome and aganglionic megacolon, which is why she was diagnosed with cartilage-hair hypoplasia, with expression of non-severe combined immunodeficiency. The decision was to proceed with hematopoietic stem cell transplantation. At the time of this report, the patient was free from infectious processes. Conclusion: Cartilage-hair hypoplasia is a condition with diverse clinical features and different degrees of immunodeficiency. As part of the treatment, it is possible to perform haematopoietic stem cell transplantation.

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          Most cited references13

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          Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

          Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic dysplasia (AD). This clinical spectrum includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency. The RMRP gene encodes the untranslated RNA component of the mitochondrial RNA-processing ribonuclease, RNase MRP. We recently demonstrated that mutations may affect both messenger RNA (mRNA) and ribosomal RNA (rRNA) cleavage and thus cell-cycle regulation and protein synthesis. To investigate the genotype-phenotype correlation, we analyzed the position and the functional effect of 13 mutations in patients with variable features of the CHH-AD spectrum. Those at the end of the spectrum include a novel patient with anauxetic dysplasia who was compound heterozygous for the null mutation g.254_263delCTCAGCGCGG and the mutation g.195C-->T, which was previously described in patients with milder phenotypes. Mapping of nucleotide conservation to the two-dimensional structure of the RMRP gene revealed that disease-causing mutations either affect evolutionarily conserved nucleotides or are likely to alter secondary structure through mispairing in stem regions. In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk.
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            Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

            To report on the expanding clinical and immunological spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans. Different types of mutations are associated with skeletal or extraskeletal manifestations of CHH, respectively. In particular, severe immunodeficiency is mostly associated with mutations that alter cyclin B2 mRNA cleavage and thus are likely to reflect disturbances in cell cycle control. The first cases of ribonuclease mitochondrial RNA-processing mutations with severe immunodeficiency, but no skeletal abnormalities, have been identified. Abnormalities of ribosome biogenesis have been shown to cause distinct bone marrow failure syndromes, including CHH. However, the specific role of ribosomal and extraribosomal defects in the pathophysiology of the various phenotypic features of CHH remains undefined. Development of suitable animal models is needed to address this important issue.
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              Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

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                Author and article information

                Journal
                ram
                Revista alergia México
                Rev. alerg. Méx.
                Colegio Mexicano de Inmunología Clínica y Alergia, A.C. (Ciudad de México, Ciudad de México, Mexico )
                2448-9190
                September 2019
                : 66
                : 3
                : 379-383
                Affiliations
                [1] Monterrey orgnameInstituto Mexicano del Seguro Social orgdiv1Hospital de Especialidades orgdiv2Servicio de Alergia e Inmunología Mexico
                [3] Ciudad de México orgnameInstituto Mexicano del Seguro Social orgdiv1Centro Médico Nacional Siglo XXI orgdiv2Hospital de Especialidades Mexico
                [2] Monterrey orgnameInstituto Mexicano del Seguro Social orgdiv1Hospital de Especialidades 25 orgdiv2Servicio de Hematología Mexico
                Article
                S2448-91902019000300379 S2448-9190(19)06600300379
                10.29262/ram.v66i3.561
                18a0b8d8-233a-464e-897b-eac4a2e19da2

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 13 October 2018
                : 15 February 2019
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 13, Pages: 5
                Product

                SciELO Mexico

                Categories
                Casos clínicos

                Cartilage-hair hypoplasia,Non-severe combined immunodeficiency,Hematopoietic stem cell transplantation,Hipoplasia cartílago-cabello,Inmunodeficiencia combinada no severa,Trasplante de células madre hematopoyéticas

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