Abstract
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the -galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme -galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry disease is the enzyme replacement therapy. Dermatologists have a key role, since cutaneous manifestations may lead to the diagnosis. This may help an early therapeutic intervention, reducing both morbidity and mortality.
Keywords: Fabry disease, angiokeratoma, telangiectasiae, lymphedema, anhidrosis, hypohidrosis, pseudo-acromegalic facial appearance.
Current Pharmaceutical Design
Title:Cutaneous Complications of Anderson-Fabry Disease
Volume: 19 Issue: 33
Author(s): Giuseppe Pistone, Daniele Rizzo and Maria Rita Bongiorno
Affiliation:
Keywords: Fabry disease, angiokeratoma, telangiectasiae, lymphedema, anhidrosis, hypohidrosis, pseudo-acromegalic facial appearance.
Abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the -galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme -galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry disease is the enzyme replacement therapy. Dermatologists have a key role, since cutaneous manifestations may lead to the diagnosis. This may help an early therapeutic intervention, reducing both morbidity and mortality.
Export Options
About this article
Cite this article as:
Pistone Giuseppe, Rizzo Daniele and Bongiorno Rita Maria, Cutaneous Complications of Anderson-Fabry Disease, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990359
DOI https://dx.doi.org/10.2174/13816128113199990359 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Three-Dimensional Ultrasound in Fetal Size and Growth Assessment
Current Medical Imaging Zebrafish Model in Drug Safety Assessment
Current Pharmaceutical Design Editorial [Hot Topic: Stroke Prevention (Guest Editors: T. Tatlisumak, K. Rantanen and M. Fisher)]
Current Drug Targets Consequences of Elevated Homocysteine During Embryonic Development and Possible Modes of Action
Current Pharmaceutical Design Current Outcomes and Considerations in Hypoplastic Left Heart Syndrome
Current Pediatric Reviews NTproBNP: An Important Biomarker in Cardiac Diseases
Current Topics in Medicinal Chemistry Development of New Therapeutic Agents for Fibrodysplasia Ossificans Progressiva.
Current Molecular Medicine Zebrafish As a Genetic Model in Pre-Clinical Drug Testing and Screening
Current Medicinal Chemistry Modulators of Networks: Molecular Targets of Arterial Calcification Identified in Man and Mice
Current Pharmaceutical Design A Pictorial Review of Intracranial Haemorrhage Revisited
Current Medical Imaging Deregulated Bone Morphogenetic Protein Receptor Signaling Underlies Fibrodysplasia Ossificans Progressiva
Current Pharmaceutical Design Minocycline Mediated Mitochondrial Cytoprotection: Premises for Therapy of Cerebrovascular and Neurodegenerative Diseases
Current Drug Targets New Insights into Binding Interfaces of Coagulation Factors V and VIII and their Homologues - Lessons from High Resolution Crystal Structures
Current Protein & Peptide Science Ginkgo Biloba for Mild Cognitive Impairment and Alzheimer’s Disease: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
Current Topics in Medicinal Chemistry Statins, Mevalonate Pathway and its Intermediate Products in Placental Development and Preeclampsia
Current Molecular Pharmacology Vital Elements of the Wnt-Frizzled Signaling Pathway in the Nervous System
Current Neurovascular Research Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide
Anti-Cancer Agents in Medicinal Chemistry Recent Development in Neuronal Migration Disorders: Clinical, Neuroradiologic and Genetics Aspects
Current Pediatric Reviews Mid-Aortic Syndrome: A Rare Cause of Renovascular Hypertension in Childhood Treated Percutaneously with an Unusual Vascular Access
Current Pediatric Reviews Pathophysiology of the Vascular Wall and its Relevance for Cerebrovascular Disorders in Aged Rodents
Current Neurovascular Research