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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Emsley and Paster emphasized the psychiatric presentation of these patients. A case report and literature review.

Urbach–Wiethe disease – Wikipedia

Psychiatric evaluation showed that she was agitated with persecutory delusions and verbal hallucinations. Autosomal recessive condition caused by mutations in the ECM1 gene, which leads to deposits of hyaline material in the skin and mucosal surfaces.

Urbach—Wiethe disease is very rare; there are fewer than reported cases in medical literature. Subsequently, skin and mucous membrane changes develop in the first two years of life. Case Reports in Dermatological Medicine. Initial scarring had begun on her face six years lkpoid and then progressed to her shoulders and arms.

Lipoid proteinosis

Proteijosis features of LP a Epidermal hyperkeratosis and accumulation of hyaline material in dermis H and E x Amorphous, eosinophilic mostly acellular hyaline material in the papillary dermis and extending around sweat glands and blood vessels In mucosal biopsies can be seen surrounding salivary gland acini.

Comparison between the start a and end of acitretin therapy b. Click here for patient related inquiries. GeneReviews – Lipoid Proteinosis, This disorder was first reported by Urbach and Wiethe DermNet NZ does not provide an online consultation service.


More than cases ages 6 to 67 years have been reported worldwide. This was accompanied by a strong positive affect, with a defect in recognizing negative emotions in external stimuli. This inhibitory effect was the underlying rationale for choice of acitretin. Page views in They may include a hoarse voice, lesions and scarring on the skin, easily protteinosis skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids.

J Eur Acad Dermatol Venereol ; Subscribe to Table of Contents Alerts. Heterozygous carriers are generally asymptomatic but may have a mild presentation including abnormal dentition.

Urbach–Wiethe disease

Br J Dermatol ; InHamada et al. The human amygdala and the induction and experience of fear.

The disease is caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 ECM1 gene. Tracheostomy is often used to relieve upper respiratory tract infections. Bethlem myopathy Ullrich congenital muscular dystrophy. There has been some success with oral dimethyl sulfoxide DMSO and intralesional heparinbut this is not true in all cases. Gemma Law, Final year medical student at Monash University. 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 ].


Case Rep Dermatol Med. The findings suggested that the amygdala plays a role in memory and in the modulation of social and emotional behavior. Summary Epidemiology Incidence and prevalence are not known.

A case of hyalinosis cutis et mucosae lipoid proteinosis of Urbach and Wiethe with common ancestors in four generations. View at Google Scholar N. Andrews’ Diseases of the Skin: Ann Clin Res ;9: Non-contrast CT scans can image calcifications, but this is not typically used as a means of diagnosing the disease.

Urbach—Wiethe disease also known pgoteinosis lipoid proteinosis and hyalinosis cutis et mucosae is a rare recessive genetic disorder, with approximately reported cases since its discovery.

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. The most striking outcome of the acitretin therapy was the significant improvement of the hoarseness. She also showed an absence of overt fear manifestations and an impoverished experience of fear across a battery of self-report questionnaires and despite a personal history of adverse and traumatic events.

Crusted lesions initially appear on the face and extremities and heal with scarring.