Cartilage-hair hypoplasia. A case report
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Colegio Mexicano de Inmunología Clínica y Alergia, A.C.
2019-06-01
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| Series: | Revista Alergia México |
| Subjects: | |
| Online Access: | http://revistaalergia.mx/ojs/index.php/ram/article/view/561 |
| _version_ | 1797709178300530688 |
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| author | Tamara Aidé Staines-Boones María Guadalupe González-Villarreal Cecilia Hernández-Fernández |
| author_facet | Tamara Aidé Staines-Boones María Guadalupe González-Villarreal Cecilia Hernández-Fernández |
| author_sort | Tamara Aidé Staines-Boones |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T06:32:36Z |
| format | Article |
| id | doaj.art-fc9bb648984d4bd291ef6b259febb8dd |
| institution | Directory Open Access Journal |
| issn | 0002-5151 2448-9190 |
| language | English |
| last_indexed | 2024-03-12T06:32:36Z |
| publishDate | 2019-06-01 |
| publisher | Colegio Mexicano de Inmunología Clínica y Alergia, A.C. |
| record_format | Article |
| series | Revista Alergia México |
| spelling | doaj.art-fc9bb648984d4bd291ef6b259febb8dd2023-09-03T01:32:54ZengColegio Mexicano de Inmunología Clínica y Alergia, A.C.Revista Alergia México0002-51512448-91902019-06-0166337938310.29262/ram.v66i3.561424Cartilage-hair hypoplasia. A case reportTamara Aidé Staines-Boones0María Guadalupe González-Villarreal1Cecilia Hernández-Fernández2Instituto Mexicano del Seguro Social, Hospital de Especialidades, Servicio de Alergia e Inmunología, Monterrey, Nuevo LeónInstituto Mexicano del Seguro Social, Hospital de Especialidades 25, Servicio de Hematología, Monterrey, Nuevo LeónInstituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades, Ciudad de MéxicoBackground: 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.http://revistaalergia.mx/ojs/index.php/ram/article/view/561hipoplasia cartílago-cabelloinmunodeficiencia combinada no severatrasplante de células madre hematopoyéticas |
| spellingShingle | Tamara Aidé Staines-Boones María Guadalupe González-Villarreal Cecilia Hernández-Fernández Cartilage-hair hypoplasia. A case report Revista Alergia México hipoplasia cartílago-cabello inmunodeficiencia combinada no severa trasplante de células madre hematopoyéticas |
| title | Cartilage-hair hypoplasia. A case report |
| title_full | Cartilage-hair hypoplasia. A case report |
| title_fullStr | Cartilage-hair hypoplasia. A case report |
| title_full_unstemmed | Cartilage-hair hypoplasia. A case report |
| title_short | Cartilage-hair hypoplasia. A case report |
| title_sort | cartilage hair hypoplasia a case report |
| topic | hipoplasia cartílago-cabello inmunodeficiencia combinada no severa trasplante de células madre hematopoyéticas |
| url | http://revistaalergia.mx/ojs/index.php/ram/article/view/561 |
| work_keys_str_mv | AT tamaraaidestainesboones cartilagehairhypoplasiaacasereport AT mariaguadalupegonzalezvillarreal cartilagehairhypoplasiaacasereport AT ceciliahernandezfernandez cartilagehairhypoplasiaacasereport |