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[Ichtyosiform erythroderma revealing a severe combined immunodeficiency].
- Source :
-
Annales de dermatologie et de venereologie [Ann Dermatol Venereol] 2020 Feb; Vol. 147 (2), pp. 131-134. Date of Electronic Publication: 2020 Jan 20. - Publication Year :
- 2020
-
Abstract
- Background: Severe combined immunodeficiency (SCID) is a the most severe form of primary immunodeficiency and is highly heterogeneous. We report an atypical form of SCID revealed by exfoliative erythroderma.<br />Patients and Methods: A 3-month-old boy, born to consanguineous parents, was admitted to the dermatology department with exfoliative erythroderma associated with eczematous patches and alopecia of the scalp, eyelashes, and eyebrows, but with no lymphadenopathy or hepatosplenomegaly. He displayed chronic diarrhea and recurrent infection since birth. A complete blood count showed marked leukocytosis with eosinophilia and lymphocytosis. These clinical and biological findings improved partly with topical steroids. The patient no longer had erythroderma and showed regrowth of hair, eyelashes and eyebrows. The subsequent CBC showed less marked eosinophilia with mild lymphopenia and no leukocytosis. Immunoglobulin levels were undetectable. Primary immunodeficiency was discussed. Immunological investigations concluded on a diagnosis of T-B-NK+ SCID. Mutation analysis revealed a homozygous c.1338C>G (pCys446Trp) mutation in the RAG2 gene. Hematopoietic stem cell transplantation is planned in the near future.<br />Conclusion: This case illustrates atypical T-B-NK+ SCID revealed by severe exfoliative erythroderma in a 3-month-old boy with RAG2 gene mutation. Neonatal erythroderma must be considered a warning sign of primary immunodeficiency requiring immediate immunological phenotyping as well as genetic testing for a definitive diagnosis.<br /> (Copyright © 2019. Published by Elsevier Masson SAS.)
- Subjects :
- Alopecia etiology
Alopecia pathology
Chronic Disease
Consanguinity
DNA-Binding Proteins genetics
Dermatitis, Exfoliative pathology
Diarrhea etiology
Eczema etiology
Eczema pathology
Hematopoietic Stem Cell Transplantation
Humans
Infant
Male
Nuclear Proteins genetics
Photography
Severe Combined Immunodeficiency genetics
Severe Combined Immunodeficiency therapy
Dermatitis, Exfoliative etiology
Severe Combined Immunodeficiency complications
Subjects
Details
- Language :
- French
- ISSN :
- 0151-9638
- Volume :
- 147
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Annales de dermatologie et de venereologie
- Publication Type :
- Report
- Accession number :
- 31973905
- Full Text :
- https://doi.org/10.1016/j.annder.2019.09.611