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Pseudoxanthoma Elasticum

Title              

Ñ    Pseudoxanthoma Elasticum

Definition

Ñ    Rare, genetic disorder

Characterised by

Ñ    Progressive calcification and fragmentation of elastic fibres (elastorrhexia)

Affects:

Ñ    Skin, retina cardiovascular system

Aetiology

Ñ    Genetic disorder

Pathogenesis

Ñ    Elastorrhexia:

Progressive calcification and fragmentation of elastic fibres:

Skin, retina, cardiovascular system

Ñ    Involves elastic fibres in mid and deep reticular dermis of skin, Bruch membrane of the eye, blood vessels

Clinical Features

History

Age

Ñ    Average age of onset 13 years

Sex

Ñ     Females > Males

IS

Ñ    Cosmetic concern regarding skin lesions

CVS

Ñ    Angina

Ñ    Hypertension

GIT

Ñ    Haematemesis

Ñ    Melaena

KUS

Ñ    Haematuria

CNS

Ñ    Loss of vision:

Retinal haemorrhage

Examination

IS

Ñ    Small yellow papules coalesce to form plaques, progress to give plucked chicken, Moroccan leather or cobblestone appearance

Ñ    Later:

Skin soft, lax, wrinkled, hangs in folds

Sites

Ñ     Lateral part of the neck

Ñ    Antecubital fossae

Ñ    Axillae

Ñ    Popliteal spaces

Ñ    Inguinal region

Ñ    Periumbilical areas

Ñ    Oral mucosa:

Lower lip

Cheek

Palate

Ñ    Vagina

Ñ    Rectum

CVS

Ñ    Coronary artery disease

Ñ    Mitral valve prolapse

GIT

Ñ    Gastric haemorrhage from fragile calcified submucosal vessels

KUS

Ñ    Renal artery involvement:

Hypertension

CNS

Ñ    Angioid streaks:

Calcification of the elastic fibres in Bruch membrane

Ñ    Retinal haemorrhage

Investigations

Tissue Diagnosis

Skin biopsy

Ñ    Elastic fibres basophilic because of calcium deposition

Ñ    Fibres are fragmented, swollen, clumped in middle and deep reticular dermis

Ñ    Collagen fibres split, unwind or flower

Ñ    Calcification is noted in the tunica media and intima of the blood vessels.

Management

Control

Drugs

Ñ    Lipid lowering agents:

Coronary artery disease

Ñ    Antihypertensives:

Coronary artery disease

 Surgery

Ñ    Excision of redundant folds:

Cosmetic reasons

Ñ    Endoscopic therapy:

Gastrointestinal haemorrhage

Ñ    Partial gastrectomy:

Gastrointestinal haemorrhage

Ñ    Laser coagulation:

Retinal haemorrhage

Lifestyle Adjustments

Ñ    Diet:

Coronary artery disease

Ñ    Exercise:

Coronary artery disease

Ñ    Avoid heavy lifting, straining, head trauma:

Prevent retinal haemorrhage

 

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