The reference OMIM entry for this protein is 247100

Lipoid proteinosis of urbach and wiethe
Lipoid proteinosis
Urbach-wiethe disease
Hyalinosis cutis et mucosae

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 (602201) on chromosome 1q21.

DESCRIPTION

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

CLINICAL FEATURES

This disorder was first reported by Urbach and Wiethe (1929). The association of early hoarseness with an unusual skin eruption suggests the diagnosis. Meenan et al. (1978) reported multiple cases in 2 closely related Irish families. Characteristics included a history of progressive hoarseness since birth; thick, yellowish skin on the face and neck with several white scars on the cheeks; infiltration of the larynx; small nodules on the edges of the upper eyelids, giving a beaded appearance; and red and verrucose skin over the elbows and knees. Additional features included patchy alopecia, mental retardation, and epilepsy. Meenan et al. (1978) indicated that bilateral intracranial calcifications are common in this disorder. - Neuropsychologic/Neuropsychiatric Manifestations Newton et al. (1971) reported an affected brother and sister of Lebanese extraction, born to second-cousin parents, who manifested neuropsychiatric symptoms, including seizures, memory defects, and rage attacks. The authors stressed the presence of specific intracranial calcifications, which they considered pathognomonic of the disease. By electron microscopy they found filamentous-like material in skin lesions, but its composition could not be defined. Emsley and Paster (1985) reported 2 unrelated patients with lipoid proteinosis. One was a 51-year-old man who presented to psychiatry with paranoia, mistrustfulness, suspicion, and aggressive attitude. He reported hoarseness since childhood and impaired memory for 10 years. Physical examination showed yellow papular lesions on the lower lip, soft palate, and pharynx. Brain CT scan showed bilateral symmetric calcification in the medial temporal lobe in the region of the amygdala. A brother reportedly had poor memory and experienced episodic 'absences.' The second patient was an 18-year-old girl who presented to psychiatry with abnormal behavior. She had hoarse voice since childhood and raised lesions on her face and around her mouth. She also had poor memory. Psychiatric evaluation showed that she was agitated with persecutory delusions and verbal hallucinations. Physical examination showed acneform facial lesions and scarring, with fine nodules along the palpebral fissures. There were yellow-white papules on the lips and tongue, and laryngeal infiltration. Brain CT scan showed calcification of the medial temporal lobes. Emsley and Paster (1985) emphasized the psychiatric presentation of these patients. Adolphs et al. (1994) studied a 30-year-old woman (SM) with Urbach-Wiethe disease which had ... More on the omim web site

Subscribe to this protein entry history

Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 247100 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).