CASE PRESENTATION: A 64-year-old Japanese woman was referred to our hospital because of right anterior
chest pain following
cough and pharyngeal discomfort.
Pleurisy was suspected due to the presence of right
pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of
hemothorax. The
bleeding that caused the right
hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient's personal history of
uterine hemorrhage and
skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak
connective tissue disease; therefore, after improvement of the
hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36). A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of
vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation.
CONCLUSION: