1.
Acta otorrinolaringol. esp
; 75(1): 61-63, ene.-feb. 2024. ilus
Artigo
em Espanhol
| IBECS
| ID: ibc-229272
2.
Acta Otorrinolaringol Esp (Engl Ed)
; 75(1): 61-63, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37391166
3.
Appl Immunohistochem Mol Morphol
; 31(10): 682-689, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37751235
RESUMO
Corneal dystrophies are hereditary diseases affecting the corneal tissue; they are bilateral, symmetrical and unrelated to environmental or systemic conditions. Congenital corneal stromal dystrophy is a very rare autosomal dominant dystrophy that is caused by a mutation in the DCN gene that encodes decorin (a proteoglycan of the extracellular matrix). We herein report 4 cases of congenital stromal corneal dystrophy in 2 families, highlighting the previously undescribed histopathologic features, the possible differential diagnosis of this entity and the key role played by decorin staining in its diagnosis.
Assuntos
Distrofias Hereditárias da Córnea , Humanos , Decorina/genética , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Mutação , Matriz Extracelular/patologia
4.
Am J Med
; 136(4): e69-e70, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36566902