Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria

Biayna Sukhudyan, Varsine Jaladyan, Gayane Melikyan, Jan Ulrich Schlump, Eugen Boltshauser, Andrea Poretti

Research output: Contribution to journalArticle

Abstract

Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.

Original languageEnglish (US)
Pages (from-to)1523-1528
Number of pages6
JournalEuropean Journal of Pediatrics
Volume169
Issue number12
DOIs
StatePublished - Dec 2010
Externally publishedYes

Fingerprint

Alopecia
Anesthesia
Corneal Opacity
Ataxia
Scalp
Hair
Gomez Lopez Hernandez syndrome

Keywords

  • Alopecia
  • Ataxia
  • Gómez-López-Hernández syndrome
  • Rhombencephalosynapsis
  • Trigeminal anesthesia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Sukhudyan, B., Jaladyan, V., Melikyan, G., Schlump, J. U., Boltshauser, E., & Poretti, A. (2010). Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria. European Journal of Pediatrics, 169(12), 1523-1528. https://doi.org/10.1007/s00431-010-1259-7

Gómez-López-Hernández syndrome : Reappraisal of the diagnostic criteria. / Sukhudyan, Biayna; Jaladyan, Varsine; Melikyan, Gayane; Schlump, Jan Ulrich; Boltshauser, Eugen; Poretti, Andrea.

In: European Journal of Pediatrics, Vol. 169, No. 12, 12.2010, p. 1523-1528.

Research output: Contribution to journalArticle

Sukhudyan, B, Jaladyan, V, Melikyan, G, Schlump, JU, Boltshauser, E & Poretti, A 2010, 'Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria', European Journal of Pediatrics, vol. 169, no. 12, pp. 1523-1528. https://doi.org/10.1007/s00431-010-1259-7
Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria. European Journal of Pediatrics. 2010 Dec;169(12):1523-1528. https://doi.org/10.1007/s00431-010-1259-7
Sukhudyan, Biayna ; Jaladyan, Varsine ; Melikyan, Gayane ; Schlump, Jan Ulrich ; Boltshauser, Eugen ; Poretti, Andrea. / Gómez-López-Hernández syndrome : Reappraisal of the diagnostic criteria. In: European Journal of Pediatrics. 2010 ; Vol. 169, No. 12. pp. 1523-1528.
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