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[Cartilage-hair hypoplasia. A case report]

Tamara Aidé Staines-Boones1, María Guadalupe González-Villarreal, Cecilia Hernández-Fernández

  • 1Instituto Mexicano del Seguro Social, Hospital de Especialidades, Servicio de Alergia e Inmunología, Monterrey, Nuevo León, México. ceciliahernandezfdez@gmail.com.

Revista Alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
|October 14, 2019
PubMed

Insights

Cartilage-hair hypoplasia, a rare genetic disorder, presents with growth issues and immune deficiencies. Hematopoietic stem cell transplantation offers a potential treatment option for affected children.

Area of Science:

  • Genetics and rare diseases
  • Immunology
  • Pediatric medicine

Background:

  • Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder.
  • Characterized by metaphyseal chondrodysplasia and fine hair.
  • Often associated with variable degrees of immunodeficiency.

Observation:

  • A case report of a 35-month-old girl with CHH is presented.
  • The patient experienced growth restriction, recurrent pneumonia, malabsorption, and aganglionic megacolon.
  • Exhibited non-severe combined immunodeficiency.

Findings:

  • Hematopoietic stem cell transplantation (HSCT) was performed.
  • The patient was free from infections at the time of reporting.
  • Demonstrates the potential efficacy of HSCT in managing CHH complications.

Implications:

  • CHH presents with diverse clinical manifestations and immunodeficiency.
  • HSCT is a viable therapeutic strategy for severe cases of CHH.
  • Highlights the importance of early diagnosis and intervention for CHH patients.
Abstract

Keywords:
Cartilage-hair hipoplasiaHematopoietic stem cell transplantationNon-severe combined immunodeficiency

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