Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- List of Contributors
- Preface
- PART I: INFECTIOUS AND INFLAMMATORY CONDITIONS
- PART II: HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
- 16 PULMONARY ARTERIOVENOUS MALFORMATIONS
- 17 HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER–WEBER–RENDU DISEASE)
- 18 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
- 19 CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE
- 20 MARFAN’S SYNDROME
- 21 PSEUDOXANTHOMA ELASTICUM
- 22 EHLERS-DANLOS SYNDROME
- 23 PROGERIA
- 24 MELAS AND OTHER MITOCHONDRIAL DISORDERS
- 25 STURGE-WEBER SYNDROME
- 26 VON HIPPEL-LINDAU DISEASE
- 27 ANEURYSMS
- 28 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
- 29 CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES
- 30 CEREBROVASCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS
- 31 MENKES DISEASE (KINKY HAIR DISEASE)
- 32 WYBURN-MASON SYNDROME
- PART III: VASCULAR CONDITIONS OF THE EYES, EARS, AND BRAIN
- PART IV: DISORDERS INVOLVING ABNORMAL COAGULATION
- PART V: SYSTEMIC DISORDERS THAT ALSO INVOLVE THE CEREBROVASCULAR SYSTEM
- PART VI: NONINFLAMMATORY DISORDERS OF THE ARTERIAL WALL
- PART VII: VENOUS OCCLUSIVE CONDITIONS
- PART VIII: VASOSPASTIC CONDITIONS AND OTHER MISCELLANEOUS VASCULOPATHIES
- PART IX: OTHER MISCELLANEOUS CONDITIONS
- Index
21 - PSEUDOXANTHOMA ELASTICUM
from PART II: - HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
Published online by Cambridge University Press: 06 January 2010
Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- List of Contributors
- Preface
- PART I: INFECTIOUS AND INFLAMMATORY CONDITIONS
- PART II: HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
- 16 PULMONARY ARTERIOVENOUS MALFORMATIONS
- 17 HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER–WEBER–RENDU DISEASE)
- 18 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
- 19 CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE
- 20 MARFAN’S SYNDROME
- 21 PSEUDOXANTHOMA ELASTICUM
- 22 EHLERS-DANLOS SYNDROME
- 23 PROGERIA
- 24 MELAS AND OTHER MITOCHONDRIAL DISORDERS
- 25 STURGE-WEBER SYNDROME
- 26 VON HIPPEL-LINDAU DISEASE
- 27 ANEURYSMS
- 28 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
- 29 CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES
- 30 CEREBROVASCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS
- 31 MENKES DISEASE (KINKY HAIR DISEASE)
- 32 WYBURN-MASON SYNDROME
- PART III: VASCULAR CONDITIONS OF THE EYES, EARS, AND BRAIN
- PART IV: DISORDERS INVOLVING ABNORMAL COAGULATION
- PART V: SYSTEMIC DISORDERS THAT ALSO INVOLVE THE CEREBROVASCULAR SYSTEM
- PART VI: NONINFLAMMATORY DISORDERS OF THE ARTERIAL WALL
- PART VII: VENOUS OCCLUSIVE CONDITIONS
- PART VIII: VASOSPASTIC CONDITIONS AND OTHER MISCELLANEOUS VASCULOPATHIES
- PART IX: OTHER MISCELLANEOUS CONDITIONS
- Index
Summary
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder, characterized predominantly by skin, eye, cardiac, and vascular abnormalities. The genetic defect has been mapped to the ABCC6 gene on chromosome 16. The most characteristic and diagnostic feature of PXE is the angioid streaks found in the retina. The streaks are red-brown or gray, are usually wider than veins, and radiate from the optic disc. Abdominal angina and ischemic bowel disease occasionally develop. Hypertension is also very common in patients with PXE and often contributes to the cardiac and cerebrovascular pathology leading to strokes. Premature occlusive cervicocranial disease and aneurysmal subarachnoid hemorrhage are the two cerebrovascular problems directly attributable to PXE. It is difficult in patients with Binswanger-like abnormalities, PXE, and hypertension to know how much of the abnormalities, if any, relate directly to PXE and how much are attributable to the hypertension.
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- Uncommon Causes of Stroke , pp. 135 - 138Publisher: Cambridge University PressPrint publication year: 2008
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