Lipoid proteinosis Urbach-Wiethe’s Disease

Year 2015, Volume: 25 Issue: 6, 357 - 360, 30.12.2015

Hatice Karaman Işın Soyuer İsmail Külahcı Nursen Tatlışen

Abstract

A 25-year-old female patient was admitted to our outpatient clinic with postpartum hoarseness. Punch biopsy specimens obtained from the larynx and sublingual region revealed multi-folded squamous epithelium with a hyperkeratosis pattern and amorphous hyaline material aggregation. This aggregation was also remarkable around the vessels. Histochemical examination showed periodic acid-schiff-positive staining of the basal membrane with negative staining with Congo red. Physical examination revealed papule-like itchy lesions in the whole body and hoarseness. Ophthalmological examination showed bilateral blepharitis. Tooth loss and yellowish papule formation in the oral mucosa were remarkable. The patient was diagnosed with lipoid proteinosis characterized by typical vocal cord involvement and conventional histopathological and clinical findings.

Keywords

Blepharitis, larynx, lipoid proteinosis

Lipoid proteinozis Urbach-Wiethe Hastalığı

Abstract

Yirmi beş yaşında kadın hasta doğumdan itibaren ses kısıklığı ile polikliniğimize başvurdu. Larenks ve dilaltı bölgesinden alınan punch biyopsi örneklerinde, hiperkeratoz paternli çok katlı yassı epitel ve epitel altında amorf hiyalinize materyal birikimi izlendi. Bu birikim, özellikle damarlar etrafında da izlendi. Histokimyasal incelemede bazal membranda periyodik asit-schiff ile pozitif boyanma, kongo kırmızısı ile negatif boyanma elde edildi. Fizik muayenede tüm vücutta papül benzeri kaşıntılı lezyonlar ve ses kısıklığı saptandı. Göz muayenesinde iki taraflı blefarozis görüldü. Dişlerde kayıp ve ağız mukozasında sarı renkli papül oluşumları da dikkati çekti. Olgumuz tipik vokal kord tutulumu ve klasik histopatolojik ve klinik bulgular ile karakterize lipoid proteinozis ile tanılandı

Keywords

Blefarozis, larenks, lipoid proteinozis

References

• Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch Pathol Anat 1929;27:286-319.
• Blodi FC, Whinery RD, Hendricks CA. Lipid- Proteinosis (Urbach-Wiethe) Involving the Lids. Trans Am Ophthalmol Soc 1960;58:155-66.
• Hofer PA. Urbach-Weithe disease: a review. Acta Derm Venereol 1973;53(Suppl. 71):1-52.
• Juberg RC, Winder PR, Turk LL. A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations. J Med Genet 1975;12:110-2.
• Emsley RA, Paster L. Lipoid proteinosis presenting with neuropsychiatric manifestations. J Neurol Neurosurg Psychiatry 1985;48:1290-2.
• Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, et al. Lipoid proteinosis: clinical, histologic, and ultrastructural investigations. Cutis 1995;56:220-4.
• Navarro C, Fachal C, Rodríguez C, Padró L, Domínguez C. Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases. Br J Dermatol 1999;141:326-31.
• Bauer EA, Santa-Cruz DJ, Eisen AZ. Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. J Invest Dermatol 1981;76:119-25.
• Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833-40.
• Lupo I, Cefalu AB, Bongiorno MR, Daniele O, Valenti V, Noto D, et al. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily. Br J Dermatol 2005;153:1019-22.
• Chan I. The role of extracellular matrix protein 1 in human skin. Clin Exp Dermatol 2004;29:52-6.
• Böhme M, Wahlgren CF. Lipoid proteinosis in three children. Acta Paediatr 1996;85:1003-5.
• Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149-55.
• Lambert WC. Cutaneous deposition disorders. In: Farmer, ER, Hood, AF, editors. Pathology of the Skin. East Norwalk: Appleton & Lange; 1990. p. 432-50.
• Harper JI, Duance VC, Sims TJ, Light ND. Lipoid proteinosis: an inherited disorder of collagen metabolism? Br J Dermatol 1985;113:145-51.
• Piérard GE, Van Cauwenberge D, Budo J, Lapière CM. A clinicopathologic study of six cases of lipoid proteinosis. Am J Dermatopathol 1988;10:300-5.
• Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, et al. Lipoid proteinosis: clinical, histologic, and ultrastructural investigations. Cutis 1995;56:220-4.
• Navarro C, Fachal C, Rodríguez C, Padró L, Domínguez C. Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases. Br J Dermatol 1999;141:326-31.
• Vural Ç, Gönül İ. I, Dursun A. Larengeal lipoid proteinozis (Urbach-Wiethe hastalığı): Olgu sunumu.. Turk Patoloji Derg 2009;25:45-8.
• Gruber F, Manestar D, Stasic A, Grgurevic Z. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol 1996;76:154-5.
• Rosenthal G, Lifshitz T, Monos T, Kachco L, Argov S. Carbon dioxide laser treatment for lipoid proteinosis (Urbach-Wiethe syndrome) involving the eyelids. Br J Ophthalmol 1997;81:253.
• Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002;19:359-62.