Phenotype #0000303492

Individual ID	00411455
Associated disease	EDSCL1
Diagnosis/Initial	cEDS
Diagnosis/Definite	-
Phenotype details	cutaneous features reminiscent of cEDS including a soft, doughy, hyperextensible skin with presence of atrophic scars (without haemosiderin deposits). Aged 48 years, a Beighton score of 4/9 was noted with distal joint hypermobility. His facial features were evocative of both cEDS and vEDS. He also had a history of an inguinal hernia and incisional hernia, both requiring repair and he suffered from a spontaneous perforation of a sigmoid colon diverticulum at age 41. Vascular complications include a right renal artery dissection and an internal iliac aneurysm (16mm). He further reported easy bruising with frequent haematomas requiring drainage twice, and increased gum bleeding. He inherited the variant from his father who had a similar phenotype and had a colonic perforation during a polypectomy at the age of 48.
Inheritance	Familial
Age/Examination	48y (48 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-06-14 06:35:18 +02:00 (CEST)
Date last edited	2022-06-20 12:04:34 +02:00 (CEST)

Global Variome shared LOVD