Fabry’s disease in a female, still an under-recognised disease
| dc.contributor.author | Lynch, M | |
| dc.date.accessioned | 2013-05-20T10:18:48Z | |
| dc.date.available | 2013-05-20T10:18:48Z | |
| dc.date.issued | 2013-05 | |
| dc.identifier.uri | http://hdl.handle.net/10147/292338 | |
| dc.description.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) | |
| dc.language.iso | en | en |
| dc.publisher | Irish Medical Journal | en_GB |
| dc.subject | PAEDIATRICS | en_GB |
| dc.subject | SKIN DISORDER | en_GB |
| dc.title | Fabry’s disease in a female, still an under-recognised disease | en_GB |
| dc.type | Article | en |
| dc.identifier.journal | Irish Medical Journal | en_GB |
| dc.description.province | Leinster | en |
| refterms.dateFOA | 2018-08-23T05:15:58Z | |
| html.description.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) |
