H syndrome: First reported paediatric case in Latin America

Translated title of the contribution: H syndrome: First reported paediatric case in Latin America

Hugo Hernán Abarca Barriga, Milana Trubnykova, Victoria Polar Córdoba, Katherine Joyce Ramos Diaz, Nélida Aviles Alfaro

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Introduction H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. Objective To present a clinical case with “typical” characteristics of H Syndrome. Clinical case The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). Conclusions These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.

Translated title of the contributionH syndrome: First reported paediatric case in Latin America
Original languageEnglish
Pages (from-to)494-499
Number of pages6
JournalRevista Chilena de Pediatria
Issue number6
StatePublished - 1 Nov 2016


  • H syndrome
  • Hyperpigmentation with hypertrichosis
  • SLC29A3 gene
  • Sensorineural hearing loss
  • Testicular tumours


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