Pseudoxanthoma Elasticum
Title
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Pseudoxanthoma Elasticum
Definition
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Rare, genetic disorder
Characterised by
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Progressive calcification and fragmentation of elastic fibres
(elastorrhexia)
Affects:
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Skin, retina cardiovascular system
Aetiology
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Genetic disorder
Pathogenesis
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Elastorrhexia:
Progressive
calcification and fragmentation of elastic fibres:
Skin, retina,
cardiovascular system
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Involves elastic fibres in mid and deep reticular dermis of
skin, Bruch membrane of the eye, blood vessels
Clinical Features
History
Age
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Average age of onset 13 years
Sex
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Females > Males
IS
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Cosmetic concern regarding skin lesions
CVS
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Angina
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Hypertension
GIT
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Haematemesis
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Melaena
KUS
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Haematuria
CNS
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Loss of vision:
Retinal haemorrhage
Examination
IS
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Small yellow papules coalesce to form plaques, progress to give
plucked chicken, Moroccan leather or cobblestone appearance
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Later:
Skin soft, lax,
wrinkled, hangs in folds
Sites
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Lateral part of the neck
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Antecubital fossae
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Axillae
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Popliteal spaces
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Inguinal region
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Periumbilical areas
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Oral mucosa:
Lower lip
Cheek
Palate
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Vagina
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Rectum
CVS
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Coronary artery disease
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Mitral valve prolapse
GIT
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Gastric haemorrhage from fragile calcified submucosal vessels
KUS
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Renal artery involvement:
Hypertension
CNS
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Angioid streaks:
Calcification of
the elastic fibres in Bruch membrane
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Retinal haemorrhage
Investigations
Tissue Diagnosis
Skin biopsy
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Elastic fibres basophilic because of calcium deposition
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Fibres are fragmented, swollen, clumped in middle and deep
reticular dermis
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Collagen fibres split, unwind or flower
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Calcification is noted in the tunica media and intima of the
blood vessels.
Management
Control
Drugs
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Lipid lowering agents:
Coronary artery
disease
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Antihypertensives:
Coronary artery
disease
Surgery
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Excision of redundant folds:
Cosmetic reasons
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Endoscopic therapy:
Gastrointestinal
haemorrhage
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Partial gastrectomy:
Gastrointestinal
haemorrhage
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Laser coagulation:
Retinal haemorrhage
Lifestyle Adjustments
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Diet:
Coronary artery
disease
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Exercise:
Coronary artery
disease
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Avoid heavy lifting, straining, head trauma:
Prevent retinal
haemorrhage
