Lipoid Proteinosis of Urbach and Wiethe

Alternative Names

  • Lipoproteinosis
  • Hyalinosis Cutis et Mucosae
  • Urbach Wiethe Disease
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

247100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q21

Description

Lipoid Proteinosis of Urbach and Wiethe is a condition characterized by deposition of masses of hyaline material in the skin and mucous membranes, especially those of the mouth. One of the characteristic symptoms of the condition is hoarseness of voice, which can be seen in most affected patients right after birth, when the infant begins to cry. Skin lesions become apparent later in life. These lesions develop in two distinct stages: the first stage consisting of bulla and hemorrhagic crusts, followed by waxy, thickened skin along with verrucous lesions on the extensor surfaces. Hyperkeratosis is seen on the elbows, knees, and axilla. On the face as well as the extremities, pox-like or acneiform scars may appear. One of the most typical features of the condition is the presence of beaded papules on the eyelids. In some cases, patients may also show epilepsy and neuro-psychiatric abnormalities.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
247100.1.1LebanonFemaleYesYes Hoarse voice ; Skin-colored papule ; H...NM_004425.4:c.121+1G>CHomozygousAutosomal, RecessiveAbbas et al, 2013 The patient also had...
247100.1.2LebanonMaleYesYes Skin-colored papule ; Hyperkeratotic pa...NM_004425.4:c.121+1G>CHomozygousAutosomal, RecessiveAbbas et al, 2013 Brother of 247100.1....
247100.2.1KuwaitUnknownYesYes Hoarse voice ; Papule ; Palmar hyper...NM_004425.4:c.1019delAHomozygousAutosomal, RecessiveHamada et al. 2002
247100.2.2KuwaitUnknownYesYes Hoarse voice ; Papule ; Palmar hyper...NM_004425.4:c.1019delAHomozygousAutosomal, RecessiveHamada et al. 2002 Sibling of 247100.2....
247100.2.3KuwaitUnknownYesYes Hoarse voice ; Papule ; Palmar hyperke...NM_004425.4:c.1019delAHomozygousAutosomal, RecessiveHamada et al. 2002 Sibling of 247100.2....
247100.3.1LibyaMaleYesYes Hoarse voice ; Yellow papule ; Dry ski...NM_004425.4:c.93_94delinsTTHomozygousAutosomal, RecessiveChan et al. 2003 Proband. He had an...
247100.4.1PalestineFemaleYesYes Hoarse voice ; Cataract ; Skin-colored...NM_004425.4:c.70+1G>CHomozygousAutosomal, RecessiveHorev et al. 2005 Proband
247100.4.2PalestineMaleYesYes Hoarse voice ; Cataract ; Skin-color...NM_004425.4:c.70+1G>CHomozygousAutosomal, RecessiveHorev et al. 2005 Brother of 247100.4....
247100.4.3PalestineFemaleYesYes Hoarse voiceNM_004425.4:c.70+1G>CHomozygousAutosomal, RecessiveHorev et al. 2005 Sister of 247100.4.1
247100.5.1Saudi ArabiaMaleYesNo Intellectual disability, moderate ; Hoa...NM_004425.4:c.806G>AHomozygousAutosomal, RecessiveSalih et al. 2011
247100.5.2Saudi ArabiaFemaleYesNo Intellectual disability, moderate ; Hoa...NM_004425.4:c.806G>AHomozygousAutosomal, RecessiveSalih et al. 2011 Sister of 247100.5.1
247100.6.1Saudi ArabiaFemaleYesYes Hoarse voice ; Yellow papuleNM_004425.4:c.1300_1301delAAHomozygousAutosomal, RecessiveSalih et al. 2011
247100.6.2Saudi ArabiaFemaleYesYes Hoarse voice ; Yellow papuleNM_004425.4:c.1300_1301delAAHomozygousAutosomal, RecessiveSalih et al. 2011 Sister of 247100.6.1
247100.7.1Saudi ArabiaFemaleYesYes Hoarse voice ; Yellow papuleECM1, 1163-BP DELHomozygousAutosomal, RecessiveSalih et al. 2011
247100.7.2Saudi ArabiaMaleYesYes Hoarse voice ; Yellow papuleECM1, 1163-BP DELHomozygousAutosomal, RecessiveSalih et al. 2011 Brother of 247100.7....
247100.7.3Saudi ArabiaMaleYesYes Hoarse voice ; Yellow papuleECM1, 1163-BP DELHomozygousAutosomal, RecessiveSalih et al. 2011 Brother of 247100.7....
247100.8.1Saudi ArabiaUnknownYesYes Hoarse voice ; Atypical scarring of sk...ECM1, 1163-BP DELHomozygousAutosomal, RecessiveHamada et al. 2002
247100.8.2Saudi ArabiaUnknownYesYes Hoarse voice ; Atypical scarring of s...ECM1, 1163-BP DELHomozygousAutosomal, RecessiveHamada et al. 2002 Sibling of 247100.8....
247100.8.3Saudi ArabiaUnknownYesYes Hoarse voice ; Atypical scarring of ...ECM1, 1163-BP DELHomozygousAutosomal, RecessiveHamada et al. 2002 Sibling of 247100.8....
247100.8.4Saudi ArabiaUnknownYesYes Hoarse voice ; Atypical scarring of...ECM1, 1163-BP DELHomozygousAutosomal, RecessiveHamada et al. 2002 Sibling of 247100.8....
247100.9LebanonFemaleNoYes Papule; Skin plaque; Lichenoid skin le...NM_004425.4:c.389C>THeterozygous, HomozygousAutosomal, RecessiveO'Blenes et al. 2015

Other Reports

Kuwait

Farolan et al, 1992, reported the case of a 20-year old Kuwaiti girl with Lipoid Proteinosis of Urbach and Wiethe. She had several erythematous papules and plaques, swollen gingiva, and generalized decreased joint mobility and swelling. but without hoarseness or CNS involvement. 

Al Zahrani et al, 1996, described a case of a 26-year-old man with hyperpigmented firm papillomatous growths along the eye lids, neck, axilla, upper arms and pubic region. Other features include macroglossia with xerostomia. [Al Zahrani KA, Shereef PH, Gaber M. Lipoid proteinosis [Urbach-Writhe disease]. Kuwait Med J. 1996; 28(3):300-2.]

Lebanon

Newton et al, 1971, reported an affected brother and sister of Lebanese origin whose parents were second cousins and who manifested neuropsychiatric symptoms, including seizures, memory defects and rage attacks. The authors noted the presence of specific intracranial calcifications as well as filamentous-like material in skin lesions. 

Qatar

Simin et al, 1998, described a family in which four females and one male were affected with Urbach Wiethe disease. Two of these patients were found to be hypertriglycidic, but without any serious complications. Nine other members in this family were heterozygous for the condition. [Simin M, Sadollah, Shamsadini. Urbach Wiethe disease: five cases within a family. Gulf J Dermatol Venerol. 1998; 5(2):51-3.]

Saudi Arabia

Uthman et al, 1991, were the first to report a family of Arabian ancestry with lipoid proteinosis. This consanguineous Saudi family had six affected members. The proband presented with characteristic skin lesions and hoarseness. The diagnosis of lipoid proteinosis was confirmed in this family on the basis of histopathological analysis and normal blood porphyrin levels.

Nanda et al, 2001, reported a Saudi Arabian family with 4 siblings diagnosed with lipoid proteinosis. Symptoms included horseness of voice, erythematous and papulovesicular lesions, and thickened mucosa. [This family (247100.8.1 to 247100.8.4) was later studied by Hamada et al, 2002].

Al-Natour, 2008, described two Saudi Arabian siblings with lipoid proteinosis. Both patients suffered from hoarseness of voice, skin lesions, progressive thickening of the skin and hair loss. Brain scans also revealed the presence of the pathognomic bilateral bean-shaped calcifications within the hippocampus. 

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