Fabry’s disease in a female, still an under-recognised disease

Hdl Handle:
http://hdl.handle.net/10147/292338
Title:
Fabry’s disease in a female, still an under-recognised disease
Authors:
Lynch, M
Publisher:
Irish Medical Journal
Journal:
Irish Medical Journal
Issue Date:
May-2013
URI:
http://hdl.handle.net/10147/292338
Abstract:
A nine-year-old girl presented with an asymptomatic eruption on her right leg which had been present for 2 years. She complained of severe acral pain and paraesthesiae for several years, despite treatment with numerous analgaesics, amitriptyline, gabapentin and carbamazepine. On occasion she had been confined to a wheelchair and required home schooling. On examination she had a unilateral eruption affecting her right thigh and lower leg (Figure 1). On closer view, there were erythematous, hyperkeratotic and haemorrhagic papules. Histopathological examination of a skin biopsy showed hyperkeratosis and dilated blood vessels in the dermis consistent with . Electron microscopy demonstrated intralysosomal glycolipid deposits, arranged in a lamellar fashion, within the endothelial cells lining dermal blood vessels (Figure 2)
Item Type:
Article
Language:
en
Keywords:
PAEDIATRICS; SKIN DISORDER

Full metadata record

DC FieldValue Language
dc.contributor.authorLynch, M-
dc.date.accessioned2013-05-20T10:18:48Z-
dc.date.available2013-05-20T10:18:48Z-
dc.date.issued2013-05-
dc.identifier.urihttp://hdl.handle.net/10147/292338-
dc.description.abstractA nine-year-old girl presented with an asymptomatic eruption on her right leg which had been present for 2 years. She complained of severe acral pain and paraesthesiae for several years, despite treatment with numerous analgaesics, amitriptyline, gabapentin and carbamazepine. On occasion she had been confined to a wheelchair and required home schooling. On examination she had a unilateral eruption affecting her right thigh and lower leg (Figure 1). On closer view, there were erythematous, hyperkeratotic and haemorrhagic papules. Histopathological examination of a skin biopsy showed hyperkeratosis and dilated blood vessels in the dermis consistent with . Electron microscopy demonstrated intralysosomal glycolipid deposits, arranged in a lamellar fashion, within the endothelial cells lining dermal blood vessels (Figure 2)en_GB
dc.language.isoenen
dc.publisherIrish Medical Journalen_GB
dc.subjectPAEDIATRICSen_GB
dc.subjectSKIN DISORDERen_GB
dc.titleFabry’s disease in a female, still an under-recognised diseaseen_GB
dc.typeArticleen
dc.identifier.journalIrish Medical Journalen_GB
dc.description.provinceLeinsteren
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