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

doi:10.1002/ccr3.6760

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

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.

PMID: 36860721
PMCID: PMC9969762
DOI: 10.1002/ccr3.6760

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. 2023.

. 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.

PMID: 36860721
PMCID: PMC9969762
DOI: 10.1002/ccr3.6760

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**
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**
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**
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**
Arterial ultrasonography and Doppler of the dissecting aneurysm of the left tibial‐peroneal trunk. (A) and (B): Longitudinal view. (C): Transversal view

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Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.
Bhandari A, Siu V, Duncan AA. Bhandari A, et al. J Vasc Surg Cases Innov Tech. 2024 Mar 21;10(3):101465. doi: 10.1016/j.jvscit.2024.101465. eCollection 2024 Jun. J Vasc Surg Cases Innov Tech. 2024. PMID: 38694482 Free PMC article.

References

1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers‐Danlos syndromes. Am J Med Genet Part C Semin Med Genet. 2017;175(1):8‐26. - PubMed
1. Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers‐Danlos syndrome type VI: prenatal exclusion of this disorder in one family. Hum Mutat. 2000;16(1):90. - PubMed
1. Hyland J, Ala‐Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI. Nat Genet. 1992;2(3):228‐231. - PubMed
1. Rohrbach M, Vandersteen A, Yi U, et al. Phenotypic variability of the kyphoscoliotic type of Ehlers‐Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011;6(1):46. - PMC - PubMed
1. D'Hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers‐Danlos syndrome: a systematic review. Genet Med. 2018;20(6):562‐573. - PMC - PubMed

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[1] Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers‐Danlos syndromes. Am J Med Genet Part C Semin Med Genet. 2017;175(1):8‐26. - PubMed

[2] Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers‐Danlos syndromes. Am J Med Genet Part C Semin Med Genet. 2017;175(1):8‐26. - PubMed

[3] Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers‐Danlos syndrome type VI: prenatal exclusion of this disorder in one family. Hum Mutat. 2000;16(1):90. - PubMed

[4] Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers‐Danlos syndrome type VI: prenatal exclusion of this disorder in one family. Hum Mutat. 2000;16(1):90. - PubMed

[5] Hyland J, Ala‐Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI. Nat Genet. 1992;2(3):228‐231. - PubMed

[6] Hyland J, Ala‐Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI. Nat Genet. 1992;2(3):228‐231. - PubMed

[7] Rohrbach M, Vandersteen A, Yi U, et al. Phenotypic variability of the kyphoscoliotic type of Ehlers‐Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011;6(1):46. - PMC - PubMed

[8] Rohrbach M, Vandersteen A, Yi U, et al. Phenotypic variability of the kyphoscoliotic type of Ehlers‐Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011;6(1):46. - PMC - PubMed

[9] D'Hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers‐Danlos syndrome: a systematic review. Genet Med. 2018;20(6):562‐573. - PMC - PubMed

[10] D'Hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers‐Danlos syndrome: a systematic review. Genet Med. 2018;20(6):562‐573. - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

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References

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Abstract

Conflict of interest statement

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