A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

作者：Colombi Marina^*; Dordoni Chiara; Cinquina Valeria; Venturini Marina; Ritelli Marco

来源：European Journal of Medical Genetics, 2018, 61(1): 17-20.

DOI：10.1016/j.ejmg.2017.10.005

• Classical Ehlers-Danlos syndrome
• Hypermobile Ehlers-Danlos syndrome
• Differential diagnosis
• COL5A1
• Mast cells

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis.

• 出版日期2018-1