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A case of Ehlers–Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report

RATIONAL: Ehlers–Danlos syndrome (EDS) is a heritable connective tissue disorder. Currently, the genotype-phenotype correlations of classical EDS (cEDS) are still controversial. Hence, this study reported a case of cEDS with both clinical manifestations and COL5A2 gene mutation. PATIENT CONCERNS: A...

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Detalles Bibliográficos
Autores principales: Xu, Xiangwen, Wang, Zhichao, Zan, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750314/
https://www.ncbi.nlm.nih.gov/pubmed/31517854
http://dx.doi.org/10.1097/MD.0000000000017138
Descripción
Sumario:RATIONAL: Ehlers–Danlos syndrome (EDS) is a heritable connective tissue disorder. Currently, the genotype-phenotype correlations of classical EDS (cEDS) are still controversial. Hence, this study reported a case of cEDS with both clinical manifestations and COL5A2 gene mutation. PATIENT CONCERNS: A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars on forehead, elbows, knees and pretibial area that had developed since childhood. DIAGNOSIS: With the skin hyperextensibility, joint hypermobility, papyraceous scar revealed by physical examination, and the heterozygous pathogenic variant c1997G > A (p.P659P) in COL5A2 gene revealed by whole exome sequencing, the diagnosis of the classical Ehlers–Danlos syndrome was made. INTERVENTIONS: The patient underwent facial scar resection and sutured in minimizing tension and perfect apposition to avoid the post-surgery scar formation. OUTCOMES: Follow-up 6 months after surgery, the wound remained a fine line scar. LESSONS: Our findings suggested that COL5A2 gene mutation (c1997G > A p.P659P) may be associated with cEDS but did not reveal other severe complications.