Phenotype #0000307590

Individual ID	00415818
Associated disease	EDSVASC
Phenotype details	19‐year‐old male patient was referred to the hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground‐glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper‐extensive and easily bruised skin. It revealed deep‐set eyes with infraorbital creases, and the skin surface was thin with increased venous visibility. Chest auscultation was normal.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-08-17 06:39:53 +02:00 (CEST)
Date last edited	2022-08-17 15:37:41 +02:00 (CEST)

Global Variome shared LOVD