Identification of a novel variant of <i>LAMB3</i> in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype
Laryngo-onycho-cutaneous (LOC) is a rare subtype of junctional epidermolysis bullosa (JEB). We report the case of a girl with congenital LOC JEB with numerous cutaneous eroded plaques, oral ulcers, nail dystrophy and laryngeal involvement phenotypically consistent with this rare subtype and explore the underlying genotype.
Authors
- Kristina M. Derrick (ORCID: https://orcid.org/0000-0001-8268-8088)
- Sharon A. Glick
- Aashka Suvarnakar (ORCID: https://orcid.org/0000-0001-9530-0687)
- Soodeh Kabir (ORCID: https://orcid.org/0000-0002-9589-008X)
- Michelle Schwartz Kahn
Institutions
- Maimonides Medical Center (US)
- SUNY Downstate Health Sciences University (US)
- Georgetown University (US)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1093/ced/llae403
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33