Article
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical genetics - 1 Mar 2026
Insalaco Anna, Rossi Cecilia, Bertucci Emma, Fiorentini Chiara, Soresina Annarosa, Giliani Silvia, Porta Fulvio, Berardi Alberto, Lugli Licia
Abstract excerpt
Cartilage hair hypoplasia (CHH) syndrome (OMIM #250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hypotrichosis and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases, and predisposition to malignancies. CHH results from homozygous or compound heterozygous mutations in the RMRP gene on chromosome 9p13, which...
Topics
- Humans
- Osteochondrodysplasias
- Hair
- Infant, Newborn
- Endoribonucleases
- Severe Combined Immunodeficiency
- Dermatitis, Exfoliative
- Hirschsprung Disease
- Mutation
- Male
- Primary Immunodeficiency Diseases
- RNA, Long Noncoding