Case of a 33-Year-Old Woman With Hemoptysis and Migrant Nodular Cavitary Lesions.
Chest
; 165(5): e133-e136, 2024 May.
Article
en En
| MEDLINE
| ID: mdl-38724151
ABSTRACT
We describe the case of a young 33-year-old woman that was referred to our clinic for evidence of migrant cavitary nodules at CT scan, dyspnea, and blood sputum. Her physical examination showed translucent and thin skin, evident venous vascular pattern, vermilion of the lip thin, micrognathia, thin nose, and occasional Raynaud phenomenon. We prescribed another CT scan that showed multiple pulmonary nodules in both lungs, some of which had evidence of cavitation. Because bronchoscopy was not diagnostic, we decided to perform surgical lung biopsy. At histologic examination, we found the presence of irregularly shaped, but mainly not dendritic, foci of ossification that often contained bone marrow and were embedded or surrounded by tendinous-like fibrous tissue. After incorporating data from the histologic examination, we decided to perform genetic counseling and genetic testing with the use of whole-exome sequencing. The genetic test revealed a heterozygous de novo missense mutation of COL3A1 gene, which encodes for type III collagen synthesis, and could cause vascular Ehlers-Danlos syndrome.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Tomografía Computarizada por Rayos X
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Colágeno Tipo III
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Hemoptisis
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Chest
Año:
2024
Tipo del documento:
Article