Some have debated as to whether or not the disease is actually a form of mucopolysaccharidosis, amyloidosis, or even porphyria. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. A case report with recurrent parotitis and intracranial calci. Lipoid proteinosis lp is a rare, inherited condition that progresses gradually with multisystemic manifestations. Both in vivo findings and cell culture data suggest that lipoid proteinosis may be a lysosomal storage disease. Lipoid proteinosis presents in early infancy with hoarseness, followed by poxlike and acneiform scars, thickening of the skin, and certain mucous membranes. Histological evaluation of the affected sites shows accumulation of hyalinelike material in dermis and disruption of basement membrane. Lipoid proteinosis information page national institute. Characteristic lesionsoftheeyelidoccur, butwe have found onlyone case in the ophthalmic literature. Minimal manifestations in 2 heterozygote carriers andthe possibility ofautosomal recessive inheritance are discussed. Although lipoid proteinosis is observed primarily in the child, references to this condition in the pediatric literature are scant.
Lipoid proteinosis lp, also known as hyalinosis cutis et mucosae or urbach wiethe disease omim. Lipoid proteinosis of urbach and wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ecm1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important proteinprotein interactions in tissue homeostasis. Lp was first reported by urbach and wiethe in 1929, and originally named lipoidosis cutis et mucosae. Get a printable copy pdf file of the complete article 2. Urbachwiethe diseaselipoid proteinosis abstract pediatric.
Pdf lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the. But it is supposed to have important physiological and biological actions in epidermal differentiation, binding of dermal collagens and proteoglycans, and regulation of angiogenesis. Lipoid proteinosis is a rare autosomal recessive disease caused by mutations in the extracellular matrix protein 1 gene ecm1. Lipoid proteinosis is a rare disease that has a chronic and benign course, still without a specific treatment. Lipoid proteinosis is due to loss of function mutations in a gene encoding extracellular matrix protein 1 ecm1 on band 1q21. Lipoid proteinosis, or urbachwiethe disease, was first described in 1929. Beaded eyelid papules termed moniliform blepharosis associated with waxy, yellow papules and nodules are a classic presentation fig. Histopathologic characteristics can be understated, delaying the diagnosis if a high degree of suspicion is not present.
Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Lipoid proteinosis caused specific changes in the brain, larynx, and cervical esophagus of a young adult man. Lipoid proteinosis is a rare genetic disorder with a diverse spectrum of clinical manifestations ranging from benign dermatological involvement to more serious manifestations of epilepsy and airway obstruction secondary to hippocampal and laryngeal infiltration, respectively. Authoritative facts about the skin from dermnet new zealand trust. Lipoid proteinosis is a chronic disease that can involve many organ systems.
A platform for patients of lipoid proteinosis and medical professionals in the field of dermatology and genetics wanting to engage further on this topic. Due to the variety of symptoms in the oral cavity, larynx and nose it is important that the ear, nose and throat professional is familiar with this affection. Lipoid proteinosis lp is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. Lipoid proteinosis an overview sciencedirect topics. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth mucous membranes, and other areas. Lipoid proteinosis lp is a rare genodermatosis characterized clinically by. Lipoid proteinosis lp is a rare disease that affects the skin and the brain. The histopathologic examination of the skin biopsy specimens obtained from the axilla, elbow, and dorsum of the hand showed hyperkeratosis and periodic acidschiff. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. Several instances of parental consanguinity were found.
Adjective callahan was among doctors who have described the illness as lipoid pneumonia. A variety of clinical features have been described. The term lipoid proteinosis was first used by urbach4 in 1932. Lipoid proteinosis is more prevalent than elsewhere in the namaqualand area of northern cape province in south africa 1 in 300. The first symptoms of hoarseness of voice occurred in puberty. Lipoid proteinosis is a condition that results from the formation of numerous small clumps deposits of proteins and other molecules in various tissues throughout the body. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Lipoid proteinosis lp is a rare, autosomalrecessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sunexposed areas. Lipoid proteinosis is caused by mutations in the ecm1 gene. Lipoid proteinosis lp is a rare autosomal recessive disorder that occurs with the accumulation of hyaline substance in oral cavity, laryngeal mucosa and skin. Tahir hussain departments of medicine, civil hospital, karachi. Lipoid proteinosis bozdag 2000 international journal. Introduction lipoid protcinosis is a rare, autosornal recessive disorder, characterized by widespread deposits of. The aim of this study was to investigate the incidence of laryngeal involvement in patients with.
Omim 247100 is a rare, autosomal recessive disorder that usually presents in infancy with a hoarse voice, followed by poxlike or acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. In this report we present the morphologic and biochemical findings in a patient severely affected with lipoid proteinosis. Lipoid proteinosis, also known as urbachwiethe syndrome mim 247100, is an uncommon autosomal recessive genodermatosis characterised by deposition of an amorphous hyaline material predominantly in the skin and mucosa of upper aerodigestive tract. Lipoid proteinosis lip, also known as hyalinosis cutis et mucosae or urbach wiethe disease. Three distinctive features characterize the disease. Genealogical investigation showed that all 5 index cases were related, and led to the identification of other. What are the clinical features of lipoid proteinosis.
This, however, was the renaming of this group of cases, as they had been previously called lipoidosis. Prognosis lipoid proteinosis has a stable or slowly progressive course the presence of this disease is compatible with a normal life span unless altered by airway obstruction or fatal seizure activity mortality rates in infants and adults are slightly. Florid calcification, conforming to the classical temporal lobe distribution, is documented by plain films and tomography. Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. The documents contained in this web site are presented for information purposes. All affected patients carry the same mutation q276x, which is likely due to a founder effect. Summary lipoid proteinosis urbachwiethe disease is a rare autosomal recessive disorder associated with deposition of hyalinised material in the skin, mucous membrane, and brain. The overlying epidermis may be papillomatous figure 1. Laryngography clearly depicts the distribution and degree of pharyngeal and laryngeal pathology. Lesions in porphyria are limited to sun exposed areas, which is not true of lipoid proteinosis smokeless tobacco keratosis arch pathol lab med 2004. Lipoid proteinosis lp is an exceedingly rare disease with approximately 400 cases reported in the literature. Lipoid proteinosis lp is known to be resulted from mutations of the.
This gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Lipoid proteinosis or urbachwiethe disease was first described in 1929. Its original name of lipoidosis cutis et mucosae was changed to lipoid proteinosis cutis et mucosae due to urbachs belief that the condition was due to abnormal lipid and protein deposits within the tissues. The symptoms of lp may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords. Pediatricians should follow patients for routine health issues and for developmental, emotional, and cognitive progress. Lipoid proteinosis lip, also known as hyalinosis cutis et mucosae or urbachwiethe disease. All 5 index cases or their parents were born in or near a small village in the namaqualand district of the northwestern cape province. Pearly papules or nodules are seen on the face, neck, and hands. Lipoid proteinosis lp of urbach and wiethe is a rare condition that affects. Lipoid proteinosis in a family pages with reference to book, from 204 to 206 zeba hasan hafeez departments of dermatology, civil hospital. It is a rare recessive genetic disorder that causes a buildup of hyaline material in the skin and mucosa.
Pdf the case of a 37yearold woman with lipoid proteinosis is presented. Symptoms may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the. Lipoid proteinosis is a rare form of storage disease characterized by the deposition of an abnormal hyalinelike material primarily in the skin and mucous membr. Lp is present worldwide, although it has been reported with a higher frequency in the northern cape province of south africa, including namaqualand, owing to a common founder effect. Lipoid proteinosis is a genetic disease and diagnosis can be established on the basis of characteristic clinical symptoms, confirmed by histopathology. Hyperkeratosis or occasionally verrucous changes may appear in sites of friction. Lipoid proteinosis of urbach and wiethe genetic and rare. Lipoid proteinosis lp is a rare autosomal recessive genodermatoses characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin, mucous membranes. Lipoid proteinosis urbachwiethe disease is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline substance.
Yellowwhite plaques can be seen on oral mucosa and on the skin among depressed scars. Summary lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox. The exact pathogenesis of this disease is unknown, but has been postulated to be the result of a lack of extracellular matrix protein ecm1, leading to. Lipoid proteinosis is a rare heritable disease of the skin and mucous membranes characterized by subepithelial deposits of hyaline material.
Lipoid proteinosis lip, also known as hyalinosis cutis et mucosae or urbachwiethe disease is an autosomal recessive disorder that presents in early infancy with hoarseness, followed by poxlike and. Lipoid proteinosis lp omim 247100, also known as urbachwiethe disease, is a rare autosomal recessive genodermatosis characterized predominantly by hoarseness, variable scarring and infiltration of the skin and mucosa. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. The clinical and histopathologic findings in a case of lipoid proteinosis are described. Dermal collagen and elastic tissue alterations, and cutaneous deposits. Electron micrographs demonstrated the presence of an extracellular, finely granular, amorphous material located in patchy distribution throughout the dermis and. This encodes an important structural protein in the basement membrane and extracellular matrix 6,7. Lipoid proteinosis, a very rare autosomal recessive genodermatosis, results in hyaline material deposition in the skin and mucous membrane. Most reported cases are of european ancestry dutch or german, but indian and chinese cases have also occurred 4,5. Summary ajewishiranian family suffered from lipoid proteinosis.
Gingival lesions in lipoid proteinosis israel 1992. Genealogical information was obtained for 5 of 6 cases of lipoid proteinosis ascertained from the records of the groote schuur hospital, cape town. Consultations with the appropriate specialists, depending on the system involved, are indicated. The objective of this paper is to report a case of lipoid proteinosis, or urbach wiethe disease, emphasizing its otolaryngological manifestations. Urbachwiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid schiffpositive. Lipoid proteinosis lp is a genetically linked, autosomally transferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids. Lipoproteinosis symptoms, causes, diagnosis, and treatment information for lipoproteinosis lipoid proteinosis of urbach and wiethe with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis.
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