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Exploring the Hemorrhagic Manifestations of an Adolescent With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case

Akshaya Kumar Balagopal1, Santhi T S2, Ashokraj Selvam2

  • 1General Medicine, Madras Medical College, Chennai, IND.

Cureus
|June 9, 2026
PubMed

A 15-year-old female patient presented with recurrent episodes of hematemesis over six months, with no identifiable source on initial evaluations, including upper gastrointestinal (GI) endoscopy and abdominal angiography. Despite a thorough workup for bleeding diatheses, the etiology remained elusive until whole-genome sequencing revealed a homozygous mutation in the ADAMTS2 gene, confirming Ehlers-Danlos syndrome (EDS), dermatosparaxis type (dEDS). Although bleeding is more common in vascular EDS, recurrent GI bleeding in this patient likely resulted from vessel wall weakness and defective collagen processing associated with dEDS. Management included celiprolol, vitamin C, multivitamins, and multidisciplinary follow-up. This case underscores the importance of genetic testing in diagnosing atypical connective tissue disorders and highlights a multidisciplinary approach for managing complex cases with recurrent, unexplained bleeding.

Keywords:
adamts2collagen vascular disorderdermatosparaxisehler danlos syndromerecurrent gi bleed

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