Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.
Am J Dermatopathol
; 46(7): 447-451, 2024 Jul 01.
Article
in En
| MEDLINE
| ID: mdl-38648026
ABSTRACT
ABSTRACT Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis. Microscopic evaluation of hematoxylin and eosin-stained sections showed vesicle formation with subepidermal separation, which is accompanied by striking neutrophil and eosinophil leukocyte infiltration both in the vesicle and papillary dermis (eosinophil-rich inflammatory infiltrate). Such a histopathological finding has been rarely reported in this condition.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epidermolysis Bullosa, Junctional
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Laminin
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Eosinophils
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Homozygote
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Mutation
Limits:
Female
/
Humans
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Infant
/
Male
Language:
En
Journal:
Am J Dermatopathol
Year:
2024
Type:
Article
Affiliation country:
Turkey