Lipoid proteinosis. Authoritative facts about the skin from DermNet New Zealand Trust. NINDS: Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual. Dermal collagen and elastic tissue alterations, and cutaneous deposits. Lipoid proteinosis. Author: Hillary Z. Zalaznick, M.D. (see Authors page).

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Subscribe to Table of Contents Alerts. Extensive atrophic scars, glossy, infiltrated, yellow papules, and plaques were present on her forehead and cheeks Figures 1 a and 1 b and beaded papules on the margins of the upper eyebrows Figure 2 a. We need long-term secure funding to provide you the information that you need at your fingertips.

Hyaline deposits in the dermis, particularly around blood vessels and sweat glands. Protdinosis you have any concerns with your skin or its treatment, see a dermatologist for advice. Hyaline infiltration lipoif the respiratory tract can lead to:. Lipoid proteinosis presenting with neuropsychiatric manifestations.

Pathology Outlines – Lipoid proteinosis

Geological study of lipoid proteinosis in South Africa. Over time, these vessels harden and the tissue they are a part of dies, causing lesions. Urbach—Wiethe disease also known as lipoid proteinosis and hyalinosis cutis et mucosae is a rare recessive genetic disorder, with approximately reported cases since its discovery. Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome.


LP is inherited in an autosomal recessive manner. The discovery that the loss of ECM1 expression leads to proteinoeis symptoms associated with Urbach—Wiethe disease suggests that ECM1 may contribute to skin adhesion, epidermal differentiation, and wound healing and scarring.

Subsequently, skin and mucous membrane changes develop in the first two years of life. Case of the Week Beaded papules over bilateral eyelids. proteinpsis

Urbach—Wiethe disease is typically not a life-threatening condition. Since there is limited experience with acitretin, large case series are needed to evaluate the effects of acitretin on LP patients, but recent case reports, including ours, indicate a possible role for acitretin in the treatment of mucosal LP.

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Urbach–Wiethe disease

The dermatological symptoms are caused by a buildup of a hyaline material in the dermis and the thickening of the basement membranes in the skin. View at Google Scholar N. Patients with lipoid proteinosis have a normal life expectancy However, deposits in the larynx can lead to proteinosjs obstruction and may need to be ablated.

The molecular basis of lipoid proteinosis: During dermatological examination, yellowish tinge and waxy texture of her face were noted. Although various therapeutic approaches have been suggested for the treatment, results are mostly conflicting and a definite therapy regimen has yet to be established.


Autosomal recessive condition caused by mutations in the ECM1 gene, which leads to deposits of hyaline material in the skin and mucosal surfaces. After proreinosis months, the cutaneous plaques have become less indurated. Hyalinosis cutis et mucosae in siblings. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

LP, first described in [ 1 ], is a rare, progressive autosomal-recessive disease. Dermal fibroblasts demonstrated marked cytoplasmic vacuolization. A case report and literature review. Immunohistochemical skin labeling for antibodies for the ECM1 protein as labeling has been shown to be reduced in the skin of those affected by Urbach—Wiethe disease.

Oral mucosa is invariably the initial affected site. D-penicillamine, oral dimethyl sulfoxide, acitretin, topical corticosteroids, and carbon dioxide laser have been used with varying degrees of success.

Eyelid beading moniliform blepharosis is a hallmark feature but occurs later in childhood. Hyalinosis cutis et mucosae: Only comments written in English can be processed. ECM1 protein is expressed in various tissues including epidermis and dermis [ 15 ].

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene ECM1.