A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report

Malika Foy; Corinne Métay; Michael Frank; Nicolas Denarié; Salma Adham; Clarisse Billon; Anne Legrand; Xavier Jeunemaitre; Fabrice Gillas; Karen Gaudon; Philippe De Mazancourt; Ahmed Mekki; Robert Carlier; Karelle Benistan

doi:10.1002/ccr3.6760

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report

Clin Case Rep. 2023 Feb 27;11(2):e6760. doi: 10.1002/ccr3.6760. eCollection 2023 Feb.

Authors

Affiliations

¹ AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers-Danlos non vasculaires Garches France.
² AP-HP, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Centre de Génétique Moléculaire et Chromosomique, Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire Paris France.
³ AP-HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris France.
⁴ CHU de Montpellier, Hôpital Saint Eloi, Service de Médecine Vasculaire - Montpellier Montpellier France.
⁵ Université de Paris, Faculté de Médecine Paris France.
⁶ AP-HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt France.
⁷ AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging Garches France.
⁸ AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging, UMR1179 INSERM Garches France.
⁹ AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers-Danlos non vasculaires, UMR1179 INSERM Garches France.

Abstract

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of kEDS-PLOD1 with several vascular complications leading to difficulties in disease management.

Keywords: PLOD1 gene; case report; kyphoscoliotic Ehlers–Danlos syndrome; vascular complications.

Publication types

Case Reports