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.
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.]
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.
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.]
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.