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Amyloidosis

Amyloidosis is the term used for a group of diseases where one or more body organs accumulate various insoluble proteins (amyloid) in amounts to cause dysfunction of the organ system. Organs ften affected include the heart, kidney, gastrointestinal tract, nervous system and skin. Amyloidosis of the skin is called cutaneous amyloidosis. In this condition, amyloid or amyloid-like proteins are eposited in the dermis layer of skin.

Types of amyloidosis There are three major types of amyloidosis: Primary amyloidosis This isorder of protein metabolism originates in the bone marrow and is occasionally associated with multiple yeloma. It is sometimes also referred to as amyloid L chain type (AL) amyloidosis. Primary systemic amyloidosis affects the heart, kidneys, liver, gastrointestinal tract and central nervous system. Skin involvement occurs in about 30-40% of patients. Amyloidosis confined to the skin is called primary ocalised cutaneous amyloidosis. Several different types of primary localised cutaneous myloidosis xist. These include lichen amyloidosis, macular amyloidosis and nodular primary localised taneous myloidosis. Secondary systemic amyloidosis This occurs as a complication of many hronic nflammatory diseases such as rheumatoid arthritis and osteomyelitis. It is also known as myloid A AA) amyloidosis and is the most common form of systemic amyloidosis worldwide. The idney, liver nd spleen are the organs are most affected in secondary systemic amyloidosis. Skin involvement s rarely a feature of the disease. Familial (hereditary) amyloidosis This is a rare form of amyloidosis hat is inherited and most commonly affects the kidneys. It is due to a mutated gene on hromosome 5.

Clinical features of primary amyloidosis
The signs and symptoms of primary systemic amyloidosis are generally non-specific and include:

• Fatigue
• Weight-loss
• Oedema
• Shortness of breath
• Light headedness
• Numbness, tingling sensation
• Hoarseness

These may precede the diagnosis by up to two years. However, when they present together with the following specific symptoms, systemic amyloidosis should be considered a possible diagnosis.

• Carpal tunnel syndrome: disturbance of median nerve function in the wrist as the nerve passes through the carpal tunnel.
• Skin lesions
  • The most common skin findings are petechiae (small red blood spots) and ecchymoses (small,flat
    blood spots that are round or irregular shape and bluish/purplish in colour).
  • Waxy papules, nodules or plaques may be found around the eyelids, neck, groin and anogenital
    area.
  • Blood-filled blisters may form for example on pinching the skin.
  • The nails may be crumbly and brittle.
  • Patches of hair loss may arise.
• Macroglossia: this refers to an enlarged and firm tongue covered in blood spots, plaques and blisters.
• Oedema (tissue swelling) develops as a result of heart failure or nephrotic syndrome (kidney disease).Hepatomegaly (enlarged liver)

Distinctive clinical features are found for each type of primary localised cutaneous amyloidosis.

Lichen amyloidosis

• This is the most common form of primary localised cutaneous amyloidosis.
• It presents as an intensely itchy rash on the shins, thighs, feet, and forearms.
• Lesions consist of multiple raised spots (papules) that are scaly and red/brown in colour.
• Papules may coalesce into thickened plaques.
• It appears to be more common in people of Chinese descent and in males.
• It most often occurs between 50-60 years of age.
• It may be a variant of lichen simplex.

Macular amyloidosis

• In this case lesions appear as flat dusky-brown or greyish coloured spots that may coalesce to form
  patches of darkened skin.
• The degree of itchiness varies from mild to severe.
• Lesions are usually distributed symmetrically over the upper back between the shoulder blades, on the
  chest and sometimes on the arms.
• It appears to be more common in Asians, South Americans and Middle Easterners.
• It usually presents in early adult life and appears to affect women more frequently than men.
  

Nodular primary localised cutaneous amyloidosis

• This is the rarest form of primary localised cutaneous amyloidosis.
• Single or multiple firm nodules or plaques may occur on the trunk, limbs, extremities, face, and genitals.
• It is usually symptomless and patients seek medical attention for their appearance.
• Nodules may be a few millimetres to a few centimetres in size and may be pinkish brown to red in colour.
• Lesions tend not to ulcerate but some may crack or split, particularly those on the soles of the feet.