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Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)

INTRODUCTION: The hypertrichosis cubiti also named “hairy elbow syndrome” is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies. CASE REPORT: The Authors rep...

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Autores principales: Pavone, Vito, Testa, Gianluca, Falsaperla, Raffaele, Sessa, Giuse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Indian Orthopaedic Research Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722584/
https://www.ncbi.nlm.nih.gov/pubmed/27299038
http://dx.doi.org/10.13107/jocr.2250-0685.267
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author Pavone, Vito
Testa, Gianluca
Falsaperla, Raffaele
Sessa, Giuse
author_facet Pavone, Vito
Testa, Gianluca
Falsaperla, Raffaele
Sessa, Giuse
author_sort Pavone, Vito
collection PubMed
description INTRODUCTION: The hypertrichosis cubiti also named “hairy elbow syndrome” is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies. CASE REPORT: The Authors report on a girl 8 years old, who showed a classical hypertrichosis cubiti, tufts of peluria in the thoraco lumbar region, moderate scoliosis and bilateral large big toes. In correspondence with the tufts of spinal peluria the MRI displayed areas of syringomyelia. CONCLUSION: A review of the cases of hypertrichosis cubiti associated to spine and bone anomalies is reported. This is the first report of the association of hypertrichosis cubiti with syringomyelia and large big toes. The presence of peluria in the elbow and/or in the thoraco lumbar region may be a clue of malformations of spine and bone. In conclusion the HC may be a simply aesthetic, benign anomaly, but may be also a clue of malformations affecting many organs including the spine and skeletal tissue.
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spelling pubmed-47225842016-06-13 Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome) Pavone, Vito Testa, Gianluca Falsaperla, Raffaele Sessa, Giuse J Orthop Case Rep Case Report INTRODUCTION: The hypertrichosis cubiti also named “hairy elbow syndrome” is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies. CASE REPORT: The Authors report on a girl 8 years old, who showed a classical hypertrichosis cubiti, tufts of peluria in the thoraco lumbar region, moderate scoliosis and bilateral large big toes. In correspondence with the tufts of spinal peluria the MRI displayed areas of syringomyelia. CONCLUSION: A review of the cases of hypertrichosis cubiti associated to spine and bone anomalies is reported. This is the first report of the association of hypertrichosis cubiti with syringomyelia and large big toes. The presence of peluria in the elbow and/or in the thoraco lumbar region may be a clue of malformations of spine and bone. In conclusion the HC may be a simply aesthetic, benign anomaly, but may be also a clue of malformations affecting many organs including the spine and skeletal tissue. Indian Orthopaedic Research Group 2015 /pmc/articles/PMC4722584/ /pubmed/27299038 http://dx.doi.org/10.13107/jocr.2250-0685.267 Text en Copyright: © Indian Orthopaedic Research Group http://creativecommons.org/licenses/by-nc-sa/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc-sa/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pavone, Vito
Testa, Gianluca
Falsaperla, Raffaele
Sessa, Giuse
Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title_full Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title_fullStr Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title_full_unstemmed Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title_short Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
title_sort syringomyelia and bone malformations in the setting of hypertrichosis cubiti (hairy elbow syndrome)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722584/
https://www.ncbi.nlm.nih.gov/pubmed/27299038
http://dx.doi.org/10.13107/jocr.2250-0685.267
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