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- Title
Desmoglein-1 Deficiency Mimicking Omenn Syndrome.
- Authors
Comert, Meltem; Guler, Tugba; Ceylan, Ayca; Celik, İlknur Kulhas; Karabagli, Pinar; Cora, Tulin; Artac, Hasibe
- Abstract
The article presents a case study of a 3-month-old patient with congenital non-bullous ichthyosiform erythroderma, initially misdiagnosed as Omenn syndrome but later identified with Desmoglein-1 (DSG1) deficiency. Topics discussed include the diagnostic process, the clinical features distinguishing DSG1 deficiency from Omenn syndrome, and the treatment approach including immunoglobulin replacement therapy and retinoid treatment.
- Subjects
FLUCONAZOLE; BIOPSY; IMMUNOGLOBULINS; ACYCLOVIR; CONGENITAL ichthyosiform erythroderma; CO-trimoxazole; GENETIC mutation; KERATOSIS; SEVERE combined immunodeficiency; RETINOIDS
- Publication
Indian Journal of Dermatology, 2024, Vol 69, Issue 3, p225
- ISSN
0019-5154
- Publication type
Case Study
- DOI
10.4103/ijd.ijd_1090_23