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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Ocular manifestations of the Urbach-Wiethe Syndrome.

Lipoid proteinosis | DermNet NZ

They concluded that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis and that clinically it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Skin and upper respiratory tract mucosa are the most prominently affected sites.

This is an open access article distributed under the Creative Commons Attribution Licensewhich permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. An appraisal of hyalinosis cutis et mucosae. Osteogenesis imperfecta Ehlers—Danlos syndrome, types 1, 2, 7.

Lipid proteinosis Urbach-Wiethe syndrome. Published by Wolters Kluwer – Medknow. GeneReviews – Lipoid Proteinosis, The material is in no protinosis intended to replace professional medical care by a qualified specialist and should not lippid used as a basis for diagnosis proteinois treatment. How to cite this URL: However, they were unable prpteinosis demonstrate any specific genotype-phenotype correlation for neurologic features.


Using DNA from 6 consanguineous families, Hamada et al. Check this box if you wish to receive a copy of your message.

Case Reports in Dermatological Medicine

The following have been trialed with variable success [2,3,10]. Histological findings on biopsy of affected cutaneous or mucosal sites show periodic acid-Schiff-positive deposition proteinodis amorphous hyaline material in the papillary dermis which confirms the diagnosis.

Online since 15 th March ‘ She also had poor memory. Introduction LP, first described in [ 1 ], is a rare, progressive autosomal-recessive disease. Board review question 2. Rpoteinosis carriers are generally asymptomatic but may have a mild presentation including abnormal dentition. Experience with acitretin in LP patients is limited [ 22 — 24 ] and conflicting results have been reported.

In some cases there is also a hardening of brain tissue in the medial temporal lobeswhich can lead to epilepsy and neuropsychiatric abnormalities. One was a year-old man who presented to psychiatry with paranoia, mistrustfulness, suspicion, and aggressive attitude.

It also allows doctors to better distinguish between Urbach—Wiethe disease and other similar diseases not caused by mutations in ECM1.

Skin may be easily damaged lipoic a result of only a proteinisis trauma or injury, leaving many blisters and additional scars. Some patients also exhibit epilepsy and neuropsychiatric abnormalities.


A number sign is used with this entry because of evidence that lipoid proteinosis is caused by homozygous or compound heterozygous mutation in the ECM1 gene on chromosome 1q View at Google Scholar N.

Additional features included patchy alopecia, mental retardation, and epilepsy.

Urbach–Wiethe disease – Wikipedia

Besides hoarseness and restricted tongue protrusion due to vocal chord and frenulum infiltration, respiratory distress attacks can occur, when the partially obstructed airway is infected [ 10 ]. One year after the end of the therapy, she revisited our clinic. Diseases of collagenlaminin and other scleroproteins.

The diagnosis of lipoid proteinosis was based on the presence of typical beaded papules along the edges of her eyebrows, thickening of the tongue, thickening of the skin over her elbows and knuckles, papules along the sides of her fingers, and relative skin fragility.

A case report and literature review. Lipoid proteinosis LP is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas.

Urbach–Wiethe disease

Brain CT scan showed calcification of the medial temporal lobes. Lipoid proteinosis LPalso known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare, autosomal-recessive disorder. Lipoidosis cutis et mucosae.