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Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria

Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Journal of Pediatrics Springer Journals

Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria

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References (28)

Publisher
Springer Journals
Copyright
Copyright © 2010 by Springer-Verlag
Subject
Medicine & Public Health; Pediatrics
ISSN
0340-6199
eISSN
1432-1076
DOI
10.1007/s00431-010-1259-7
pmid
20652311
Publisher site
See Article on Publisher Site

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.

Journal

European Journal of PediatricsSpringer Journals

Published: Jul 23, 2010

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