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

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

Malika Foy  1 , Corinne Métay  2 , Michael Frank  3 , Nicolas Denarié  3 , Salma Adham  4 , Clarisse Billon  3 , Anne Legrand  3   5 , Xavier Jeunemaitre  3   5 , Fabrice Gillas  1 , Karen Gaudon  2 , Philippe De Mazancourt  6 , Ahmed Mekki  7 , Robert Carlier  8 , Karelle Benistan  9
Affiliations
Case Reports

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

Malika Foy et al. Clin Case Rep. .

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.

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Conflict of interest statement

No conflict of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Clinical phenotype of the kEDS patient. (A) Patient at the age of 29 years after multiple surgical corrections of severe thoracolumbar scoliosis. (B) Pes planovarus and scar hyperpigmentation. (C) Varicose veins of the left lower limb; (D) Joint hyperlaxity: passive apposition of the thumb on the forearm. (E) Mandibular retrognathia. (F) Atrophic scars on the forehead
FIGURE 2
FIGURE 2
Radiological findings at the age of 29 and 30 years. (A and B) Left thoracolumbar kyphoscoliosis corrected by arthrodesis. (C) L5‐S1 disc herniation. (D) Splenic infarction (full arrow) and angiomyolipoma (dashed arrow)
FIGURE 3
FIGURE 3
Arterial ultrasonography and Doppler of the false thrombosed occlusive aneurysm (proximal right anterior tibial artery). (A) and (B): Longitudinal view. (C): Transverse view. (D) Longitudinal view on ultrasonography and (E) Doppler ultrasonography of the dissection of the right posterior tibial artery
FIGURE 4
FIGURE 4
Arterial ultrasonography and Doppler of the dissecting aneurysm of the left tibial‐peroneal trunk. (A) and (B): Longitudinal view. (C): Transversal view
See this image and copyright information in PMC

References

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