What Is Cutaneous Amyloidosis?
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Cutaneous Amyloidosis - Causes and Treatment

Published on Sep 08, 2022 and last reviewed on Apr 26, 2023   -  4 min read


Cutaneous amyloidosis is a collection of skin disorders where abnormal proteins known as amyloid accumulate in different organs and tissues of the body.


Amyloidosis is a collection of diseases in which proteins accumulate in one or more body parts, causing impaired organ function. The kidney, heart, nervous system, gastrointestinal tract, and skin are commonly affected. Cutaneous amyloidosis is the accumulation of amyloid protein in the wave-like projections between the two superficial layers of skin. The primary feature of cutaneous amyloidosis is a skin patch with abnormal color or texture.

What Is the Cause of Cutaneous Amyloidosis?

Mutations of the OSMR or IL31RA gene cause cutaneous amyloidosis.

OSMR gene mutation is type 1, and an IL31RA gene mutation is known as type 2. Mutations of either OSMR or IL31RA gene causes lichen and macular amyloidosis, but the cause of nodular amyloidosis is yet to be identified. The OSMR and IL31RA genes provide signals to produce subunits of interleukin receptors which in turn combine with different proteins to form OSM receptors. The interleukin receptor and OSMR are attached to a specific protein in the cell membrane in every body part. This receptor to protein attachment produces chemical signals for proper cell functioning.

The OSM receptor interacts with the oncostatin M (OSM) protein. OSM triggered Signal helps develop blood cells, cell maturation, inflammation, and self-destruction of the cells. The IL-31 receptor signals IL-31, causing inflammation and itch. Mutation of the OSMR gene decreases signals by OSM and IL-31, while mutation of the IL31RA gene weakens only IL-31 signaling.

Cutaneous amyloidosis may not show a mutation in the OSMR or IL31RA gene. The cause in these cases is unknown.

How Is Cutaneous Amyloidosis Classified?

Amyloidosis can be systemic, involving many organs, or localized, involving only one organ or system. Skin can be associated in both ways.

Systemic Amyloidosis Secondary to Cutaneous Alterations:

Reactive systemic secondary amyloidosis of certain cutaneous inflammatory conditions are seen in leprosy, cutaneous tuberculosis, psoriasis, discoid lupus erythematosus, hidradenitis suppurativa, dystrophic epidermolysis bullosa, infected burns, or other dermatoses.

Changes in the skin in systemic amyloidosis include deposition of amyloid around lymphatic vessels, bleeding with purpura, petechiae, ecchymoses, alopecia, cutis laxa, bullae, and blisters. Hemorrhages occur on the tongue or buccal mucosa. Extensive cutaneous ulceration or nail dystrophy is very rare. Macroglossia is commonly seen.

Localized Cutaneous Amyloidosis:

There are two types of localized cutaneous amyloidosis. They are:

  1. Keratinic amyloidosis.

  2. Nodular amyloidosis.

Keratinic Amyloidosis:

Keratinic amyloidosis is the deposition of keratin from the basal keratinocyte. It is classified as follows:

Based on the source of lesion:

  • Primary Keratinic Amyloidosis:

In primary keratinic amyloidosis the keratin deposition occurs first, leading to a secondary skin lesion. However, the primary form occurs secondary to persistent rubbing or scrubbing; hence primarily the lesion is also known as ‘‘friction amyloidosis’’.

  • Secondary Keratinic Amyloidosis:

The secondary keratinic amyloidosis type occurs secondary to an existing condition like inflammatory condition, basal cell carcinoma, sweat gland tumors, trichoblastoma, melanocytic nevus, actinic keratosis, seborrheic keratosis, Bowen disease, mycosis fungoides, or PUVA treatment.

Based on the type of lesion:

  • Macular Amyloidosis:

In macular amyloidosis, the lesions are poorly defined patches, reticulate or ‘‘rippled’’ appearance with subtle amyloid deposition. It is common in women, located at the back, trunk, or thighs.

  • Lichen Amyloidosis:

Lichen amyloidosis usually presents as pruritic discrete hyperpigmented papules that later unite as diffuse pigmentation without bumps. There is prominent amyloid deposition. It is commonly seen in the arms, calves, back, and dorsum of the feet. Lichen amyloidosis co-exists with other skin conditions like angiolymphoid hyperplasia and eosinophilia.

  • Anosacral variant of amyloidosis is present in Chinese and Japanese population.

Nodular Amyloidosis:

Nodular amyloidosis is made of light immunoglobulin chains (AL type amyloid), but no blood disorders are found. Hence, it is described as a localized disease. When systemic involvement is present, the prognosis of the disease is poor. In case of systemic involvement, gene rearrangement studies are to be performed.

Clinically, it is presented as single or multiple waxy nodules with or without overlying atrophic epidermis and is known as masquerading a foot callus. It is located in the eyelids, noses, trunk, extremities, and genitalia. Sometimes, the amyloid deposit is seen in the blood vessels and the nerve sheaths. Rarely dystrophic calcification or bone formation is seen. It may be associated with CREST syndrome.

What Are the Variations in Cutaneous Amyloidosis?

A poikiloderma-like cutaneous syndrome - poikilodermatous skin lesions, lichenoid papules with a cutaneous amyloid deposit in pigmented and lichenoid lesions. Patients are sensitive light, short in stature, with blisters or palmoplantar keratosis.

An X-linked pattern of inheritance is also seen in cutaneous amyloidosis. It is related to amyloidosis cutis dyschromic, which is a familial type of amyloidosis that presents as reticulate hyper and hypopigmentation of the trunk and limbs.

How Is Primary Cutaneous Amyloidosis Treated?

The treatment of lichen and macular type of cutaneous amyloidosis aims to relieve itch. It includes:

A. Non-invasive Treatments:

  1. Sedating antihistamine.

  2. Topical and intra-lesion steroids.

  3. Topical dimethyl sulfoxide (DMSO).

  4. Phototherapy (UVB or PUVA).

B. Surgical Therapy:

  1. Laser vaporization.

  2. Dermabrasion.

  3. Excising the specific lesions.

The treatment of a nodular type of localized cutaneous amyloidosis is aimed at improving appearance. It includes:

  • Antibiotics.

  • Topical and intralesional corticosteroids.

  • Cryotherapy.

  • Dermabrasion.

  • Shaving.

  • Curettage and electro-desiccation.

  • Carbon dioxide laser.

  • Pulsed dye laser.

Primary cutaneous amyloidosis may persist or relapse after treatment but is limited to the skin, and no systemic spread is seen.

What Is the Prognosis of Cutaneous Amyloidosis?

Most patients when left untreated die within one to two years after diagnosing amyloidosis due to heart or kidney failure.


Cutaneous amyloidosis is a skin disease of amyloid deposition, a complex protein structure. The exact cause of cutaneous amyloidosis is yet to be identified. It may be associated with conditions like atopic dermatitis, sarcoidosis, and psoriasis. Most cases are seen at different intervals with no family history. But when rare familial forms occur it is due to changes in the OSMR or IL31RA gene. Treatment depends on the clinical presentation of an individual including medications or surgery.

Frequently Asked Questions


Can Amyloidosis Have an Impact on the Skin?

Amyloidosis comes in various forms. Each kind is named after the abnormal protein that causes the condition. For example, in a type known as primary localized cutaneous amyloidosis (PLCA), abnormal protein clumps called amyloids accumulate in the skin, notably in the wave-like projections (dermal papillae) that lie between the top two layers of skin (the dermis and the epidermis). The most common organs affected by AL amyloidosis are the heart and kidneys, although it can also affect the skin, stomach, gut, and nerves.


How Do You Define Localised Cutaneous Amyloidosis?

Primary localized cutaneous amyloidosis (PLCA) is a disorder in which abnormal protein clumps called amyloids accumulate in the skin, notably in the wave-like projections (dermal papillae) that lie between the top two layers of skin (the dermis and the epidermis). Patches of skin with unusual colors or textures make up the main characteristic of PLCA. Lichen amyloidosis, macular amyloidosis, and nodular amyloidosis are three variations of the condition that are distinguished by the presence of these patches.


What Are the Amyloidosis Warning Signs?

The possible symptoms of cutaneous amyloidosis include:
- Feeling dizzy or fainting, especially after standing or sitting up.
- Numbness sensation in the hands and feet (peripheral neuropathy).
- Constipation, diarrhea, or nausea.
- Wrist, hand, and finger tingling, numbness, and pain (carpal tunnel syndrome).
- Easy bruising from the skin.


Does Cutaneous Amyloidosis Be Itchy?

These nodules or lumps are usually not itchy and can appear on the face, body, limbs, or genitalia. Some affected people have spots that resemble both lichen and macular types of amyloidosis.


How Does Amyloidosis on the Skin Looks?

Patches of thickened skin, numerous tiny bumps, and highly itchy skin are the hallmarks of lichen amyloidosis. The patches are reddish brown in hue and scaly. Usually found on the shins, these patches can also be found on the forearms, other areas of the legs, and other portions of the body.


How Is Amyloidosis Suspected?

Amyloidosis is suspected when extreme weakness, fatigue, and breathing difficulty occur. Hands or feet tingling, burning, or waxy skin thickening, easy bruising of the cheeks, eyelids, or chest, or purple spots around the eyes are possible symptoms. In addition, abnormal heartbeat may be impacted by amyloidosis, which could lead to heart rhythm problems and irregular heartbeats.


Does a Dermatologist Diagnose Amyloidosis?

A dermatologist can detect amyloidosis in its early stages using a skin biopsy stained with Congo red dye and other necessary tests. Dermatological abnormalities can be the only symptom in the early stages compared to organ involvement in the later stages of the disease.


Does Amyloidosis an Autoimmune Disease?

Amyloidosis is one of the rare diseases that develop when an amyloid protein accumulates in organs. Organ dysfunction may result from this amyloid accumulation. The condition known as AA amyloidosis, formerly known as secondary (AA) amyloidosis, is characterized by the deposition of fibrils in extracellular tissues made up of intact or fragmented serum amyloid A protein (SAA). This type of amyloidosis is an autoimmune disease.


How Long Will Someone Who Has Amyloidosis Live?

Based on the kind of cardiac amyloid (protein), the extent of organ involvement, and the stage of diagnosis, the average life expectancy varies. In severe cases, based on these variables, it could be six months, while in some circumstances, the life expectancy can be eight to ten years after diagnosis. The Genetic and Rare Diseases Information Center estimates that individuals with familial ATTR-type amyloidosis live for seven to twelve years on average after diagnosis.


Which Amyloidosis Cause Lumps Under the Skin?

A rare disorder known as nodular localized cutaneous amyloidosis (NLCA) is marked by the deposit of amyloid or amyloid-like proteins in the dermis. Although the amyloid protein is formed from a limited infiltration of plasma cells, the origin of NLCA is unknown. Pink, red, or brown nodules that are firm, elevated lumps are the hallmark of nodular amyloidosis. These nodules are usually not itchy and can appear on the face, body, limbs, or genitalia.


Which Is the Most Common Skin Type to Develop Macular Amyloidosis?

The simplest type of cutaneous amyloidosis, known as macular amyloidosis (MA), is characterized by ripple-shaped brownish macules primarily found on the trunk and extremities. The incidence of MA is particularly high in South America, the Middle East, and populations with darker skin according to Fitzpatrick's classification of phototypes IV and V.


Is Amyloidosis a Kind of Leukemia?

There are many people affected by this rare disease called amyloidosis each year. Although amyloidosis may be linked to blood cancers like multiple myeloma, it is not cancer by itself. Instead, the accumulation of the abnormal protein known as amyloid only causes amyloidosis.


What Is the Definition of Secondary Systemic Amyloidosis?

The protein "serum amyloid A," produced by the body in reaction to infection or inflammation, is known as AA (secondary) amyloidosis. In this condition, abnormal proteins accumulate in tissues and organs. These abnormal protein clumps are referred to as amyloid deposits. It is referred to as "secondary" due to its occurrence as a result of another illness or condition. Kidneys, spleen, and liver are commonly affected by secondary (AA) amyloidosis. However, it rarely affects the heart.


What Are the Treatment Options for Secondary Amyloidosis?

Treatment aims to address the underlying problem causing the inflammation or infection, such as controlling rheumatoid arthritis with immune suppressants or treating persistent tuberculosis with the proper medications.

Last reviewed at:
26 Apr 2023  -  4 min read




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