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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Some other dermatological lipodi that are sometimes seen but less common include hair lossparotitis and other dental abnormalities, corneal ulceration, and focal degeneration of the macula.

Urbach–Wiethe disease

proyeinosis In some regions of South Africa, up to one in 12 individuals may be carriers of the disease. One was a year-old man who presented to psychiatry with paranoia, mistrustfulness, suspicion, and aggressive attitude. Journal of Dermatology Oral manifestations of lipoid proteinosis: Intellect was low-average, but consistent with her environmental circumstances.

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View at Google Scholar N. Lipoidosis cutis lkpoid mucosae. A case with ophthalmological and psychiatric findings. Patchy or diffuse hair loss may be present. Board review question 1. The most striking outcome of the acitretin therapy was the significant improvement of the hoarseness.

By using this site, you agree to the Terms of Proteinosia and Privacy Policy. Inwhat appears to be the first case of Urbach—Wiethe disease was reported by Friedrich Siebenmanna professor of otolaryngology proteinosia BaselSwitzerland. Lipoid proteinosis [title] skin. Although various therapeutic approaches have been suggested for the treatment, results are mostly conflicting and a definite therapy regimen has yet to be established.

Neuropsychological correlates of bilateral amygdala damage.

Acitretin Treatment for Lipoid Proteinosis

Treatment of LP with acitretin has shown some efficacy for hoarseness after use over a long period, but there has been variable success in treating the skin lesions. Hyalinosis cutis et mucosae: Please consider making a proteinowis now and again in the future. Molecular genetic testing confirms the diagnosis. Anecdotal good results have been reported with oral dimethyl sulphoxide DMSO [ 19 ], D-penicillamine [ 20 ], etretinate [ 21 ], and acitretin [ 22 — 24 ], and carbon dioxide laser surgery has been proposed in the treatment of affected vocal cords [ 25 ] and eyelid papules [ 26 ].


Genetic counseling LP is inherited in an autosomal recessive manner. A skin biopsy was performed from the hyperkeratotic plaque on the right elbow, revealing epidermal hyperkeratosis, eosinophilic, amorphous, infiltrate throughout the dermis, and thickening of basement membrane Figures 3 a and 3 b.

J Dermatol Sci ; This inhibitory effect was the underlying rationale for choice of acitretin. The human amygdala and the induction and experience of fear. A report from south India. Currently, there is no cure for Urbach—Wiethe disease although there are some liipoid to individually treat many of its symptoms.

The characteristic skin changes of lipoid proteinosis tend lipoud occur in overlapping stages. Health care resources for this disease Expert centres 47 Diagnostic tests 5 Patient organisations 17 Orphan drug s 0. Prognosis The prognosis is generally favorable.

In this paper we describe a year-old LP patient who was treated with acitretin for six months. Evidence from Urbach-Wiethe disease. Biopsy of proteinosls skin showed deposition of neutral mucopolysaccharides.

She had marked hoarseness since birth.

New author database being installed, click here for details. Detailed information Professionals Summary information Polskipdf Clinical genetics review English Autosomal recessive condition caused by mutations in the ECM1 gene, which leads to deposits of hyaline material in the skin and mucosal surfaces.

An infiltrate of histiocytes and foreign body giant cells engulfing elastotic protienosis Dense, band-like lymphocytic infiltrate in dermis that obscures the dermoepidermal junction Hyaline deposits in the dermis, particularly around blood vessels and sweat glands Proteimosis fatty infiltration of the dermis Orthokeratotic proeinosis and papillomatosis of stratum spinosum. Acitretin Treatment for Lipoid Proteinosis. Many cases are also reported from the Middle East and India.


Causative loss-of-function mutations have been found in the ECM1 gene 1q21 encoding extracellular matrix protein 1, which has a role in physiology and homeostasis of the skin and many other tissues. Hyalinosis cutis et mucosae lipoid proteinosis: More than cases ages 6 to 67 years have been reported worldwide. Studies in animals had shown that the amygdala receives highly lipoi visual input, contains neurons that respond selectively to faces, and participates in emotion and social behavior.

This disorder was first reported by Urbach and Wiethe How to cite this article: Disease definition Lipoid proteinosis LP is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. A clinical and pathomorphological study.

Case Reports in Dermatological Medicine

Hyalinosis cutis et mucosae Urbach-Wiethe disease Prevalence: The material is in no way intended to replace professional medical care by a qualified specialist and should not be used proteinosls a basis for diagnosis or treatment. Indian J Dermatol Venereol Leprol ; Patients with lipoid proteinosis have a normal life prtoeinosis However, deposits in the larynx can lead to airway obstruction and may need to be ablated. She presented with occasional absence-like spells every few months and had poor day-to-day memory.