Ehlers-Danlos syndrome kyphoscoliotic type: about a case

Authors

Keywords:

collagen disease, Ehlers-Danlos syndrome, elastic skin

Abstract

Ehlers-Danlos syndrome is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by abnormal collagen synthesis affecting skin, ligaments, joints, blood vessels, and other organs. Six main subtypes are recognized, including kyphoscoliotic, characterized by severe muscular hypotonia at birth, joint hypermobility, dislocations, severe progressive kyphoscoliosis, skin hyperelasticity, marfanoid habitus, osteopenia, fragile eyes and vascular fragility. This report is made with the objective of characterizing a clinical case of suspected Ehlers-Danlos syndrome, kyphoscoliotic type. This is a patient who came to the Internal Medicine service for presenting pain and loss of strength in the biceps brachii region, which on physical examination revealed the presence of various clinical signs of those described above. It is concluded that due to its infrequency, this disease is usually underdiagnosed, so it is necessary to disclose its clinical characteristics.

References

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Published

2025-02-05

How to Cite

1.
Aguilar Ricardo LJ, Pérez Almaguer JC, Reyes Leyva LR, Pérez González L, Cruz García MC. Ehlers-Danlos syndrome kyphoscoliotic type: about a case. Rev. cient. estud. HolCien [Internet]. 2025 Feb. 5 [cited 2025 Feb. 12];5(3). Available from: https://revholcien.sld.cu/index.php/holcien/article/view/320

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Vol. 5 No. 3 (2024): En progreso

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PRESENTACIÓN DE CASOS

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Centro Provincial de Información de Ciencias Médicas. Universidad de Ciencias Médicas de Holguín. Cuba.

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