Lipoid proteinosis

Author: Gemma Law, Final year medical student at Monash University. Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, July 2015.

What is lipoid proteinosis?

Lipoid proteinosis is a rare genetic skin disease in which an amorphous hyaline material is deposited in the skin, mucosa, and internal organs.[1,2] It often presents as hoarseness in early childhood, associated with thickening of skin and mucosae.[3]

It is also called hyalinosis cutis et mucosae, and Urbach-Wiethe disease.

Who gets lipoid proteinosis?

Lipoid proteinosis is inherited as an autosomal recessive disorder. This means that both parents of an affected individual carry an abnormal gene. The parents are often related to each other by birth, and there may be a family history of the disease.

Lipoid proteinosis affects males and females equally.

What causes lipoid proteinosis?

Lipoid proteinosis is due to loss of function mutations in a gene encoding extracellular matrix protein 1 (ECM1) on band 1q21. This encodes an important structural protein in the basement membrane and extracellular matrix.[6,7]

What are the clinical features of lipoid proteinosis?

Lipoid proteinosis often presents in early childhood, but may rarely present at birth or in adulthood if cutaneous manifestations are subtle.[1,2]

It has variable phenotype, ie, clinical features differ between affected individuals, even within families. Although skin and mucous membranes of mouth, pharynx, and larynx are commonly affected, hyaline material may infiltrate any part of the body.[7]

Skin

The characteristic skin changes of lipoid proteinosis tend to occur in overlapping stages.[1,3] They are due to dermal infiltration with hyaline.

  1. Recurrent blistering most commonly seen on face and extremities, predominantly on sites of trauma. This heals slowly with haemorrhagic crusting and scarring.
  2. Waxy yellow skin thickening
    • Beaded eyelid papules (moniliform blepharosis)
    • Generalized skin thickening, most obvious on face, axilla and scrotum
  3. Warty papules and plaques at sites of friction (eg elbows and extensor forearms)

Other common cutaneous features include:

Respiratory tract

Hyaline infiltration of the respiratory tract can lead to:

Central nervous system

Lipoid proteinosis may affect the nervous system. Features may include:

Eye

When lipoid proteinosis affects the eye, it can lead to:

How is lipoid proteinosis diagnosed?

The 2 most reliable signs of lipoid proteinosis are:[3]

  1. Hoarse voice, classically presenting as an infant with a faint or hoarse cry
  2. Thickened sublingual frenulum (a band of tissue), which prevents patients from protruding the tongue

Further testing should be performed in patients with suggestive clinical features.

Differential diagnosis of lipoid proteinosis

Depending on clinical presentation, other diagnoses to consider may include:[2,3,9]

What is the treatment for lipoid proteinosis?

There is no known effective treatment for lipoid proteinosis. The following have been trialed with variable success.[2,3,10]

There may be potential for development of effective treatments for lipoid proteinosis in the future, such as recombinant ECM1 gene therapy.[10]

Patients with lipoid proteinosis are often under the care of multiple specialists, including:

What is the outcome for patients with lipoid proteinosis?

Lipoid proteinosis is a chronic disease with a generally favourable prognosis that runs a slowly progressive, benign course.[1,2,11] Lifespan is normal for most patients, with the exception of those with central nervous system and/or respiratory tract involvement.[1]

However, progressive thickening of the skin and scarring, along with abnormal voice, can have a significant psychosocial impact, leading to difficulties at work, low self-esteem and overall poor quality of life.[3]

Related information

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