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Lipoid proteinosis

Year 2021, Volume: 4 Issue: 2, 30 - 40, 30.06.2021

İsa An Mustafa Aksoy Murat Öztürk Erhan Ayhan

https://doi.org/10.33204/mucosa.936953
Cited By: 2

Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions of the body, including skin, mucous membranes, brain, internal organs. LP is caused by mutations in the gene encoding the extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease is rare, it is more reported in areas where consanguineous marriages are common. During the infancy, it begins with hoarseness due to laryngeal infiltration. Gradually, skin and mucous changes become clinically evident. The affected individuals have a normal survey unless laryngeal obstruction develops. A multidisciplinary approach is recommended for monitoring these patients.

Keywords

ECM1 Lipoid Proteinosis Moniliform Blepharosis

References

  • Dertlioglu SB, Calik M, Cicek D. Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from Sanliurfa. Int J Dermatol 2014;53:516-23.
  • Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch A Pathol Anat Histol 1929;27:286‑319.
  • Salih MA, Abu-Amero KK, Alrasheed S, et al. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet 2011;12:31.
  • Baykal C, Topkarci Z, Yazganoglu KD, et al. Lipoid proteinosis: a case series from Istanbul. Int J Dermatol 2007;46:1011-6.
  • Hegde RG, Yadav VK, Gajbhiye MI. Lipoid proteinosis: pathognomonic clinical and radiological features. BMJ Case Rep 2014;2014:bcr2014203950.
  • Vahidnezhad H, Youssefian L, Uitto J. Lipoid proteinosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  • Custodio Lima J, Nagasako CK, Montes CG, et al. Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a Brazilian female patient. Case Rep Med 2014;2014:952038.
  • Yukkaldiran A, An I, Erdogan O. Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients. J Cosmet Dermatol 2021;20:2259-63.
  • Gunes B, Karadag R, Uzun L, et al. Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis). Arq Bras Oftalmol 2019;82:242-4.
  • Balestri M, Cappelletti S, Valeriani M, et al. Structural focal temporal lobe seizures in a child with lipoproteinosis. Pediatr Neurol 2015;52:104-6.
  • Frenkel B, Vered M, Taicher S, et al. Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. Clin Oral Investig 2017;21:2245-51.
  • Bakry OA, Samaka RM, Houla NS, et al. Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep 2014;8:29-34.
  • Madura C, Priya A, Chandrashekar BS. Lipoid proteinosis: skin resurfacing with combination of fractional CO2 and non-ablative radio frequency: a rare case report. J Cutan Aesthet Surg 2018;11:91-4.
  • Dogramaci AC, Celik MM, Celik E,et al. Lipoid proteinosis in the eastern Mediterranean region of Turkey. Indian J Dermatol Venereol Leprol 2012;78:318-22.
  • LeWitt TM, Paller AS, Bell A, Zhou X. Lipoid proteinosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.
  • An I, Guldur MA, Aksoy M, et al. Histopathological findings in patients with lipoid proteinosis. Turk J Dermatol 2019;13:99.
  • Ranjan P, Mishra D, Plesec T, et al. Familial moniliform blepharosis: clinical, histopathological and genetic correlation. Ophthalmic Genet 2015;36:160-4.
  • Van Hougenhouck-Tulleken W, Chan I, Hamada T, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413-23.
  • Oz F, Kalekoglu N, Karakullukcu B, et al. Lipoid proteinosis of the larynx. J Laryngol Otol 2002;116:736-9.
  • Yukkaldiran A, Aksoy M, Yesilova Y, et al. The frequency of laryngeal involvement in lipoid proteinosis patients. Ann Med Res 2019;26:909-12.
  • Izadi F, Mahjoubi F, Farhadi M, at al. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. Indian J Med Res 2016;143:303-7.
  • Zhu T, Bai X, Ma D, et al. Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis. Clin Chim Acta 2021;512:122-6.
  • Fujimoto N, Terlizzi J, Aho S, et al. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol 2006;15:300-7.
  • Sung HJ, Johnson CE, Lessner SM, et al. Matrix metalloproteinase 9 facilitates collagen remodeling and angiogenesis for vascular constructs. Tissue Eng 2005;11:267-76.
  • Hamada T, McLean WH, Ramsay M, 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.
  • Afifi HH, Amr KS, Tosson AM, et al. Lipoid proteinosis: A clinical andmolecular study in Egyptian patients. Gene 2017;628:308-14.
  • Dertlioglu SB, Edgunlu TG, Sen DE, et al. Extracellular matrix protein 1 gene mutation in Turkish patients with lipoid proteinosis. Indian J Dermatol 2019;64:436-40.
  • The Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk (last accessed 25 April 2021).
  • Hamada T, Wessagowit V, South AP, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotypephenotype correlation. J Invest Dermatol 2003;120:345-50.
  • Youssefian L, Vahidnezhad H, Daneshpazhooh M, et al. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol 2015;24:220-2.
  • Zaouak A, Zribi H, Eleuch D, et al. Vesiculobullous eruption revealing lipoid proteinosis: a potential diagnostic pitfall. A case report and a brief review. Int J Pediatr Adolesc Med 2015;2:157-60.
  • Nico MM, Hammerschmidt M, Lourenco SV. Oral mucosal manifestations in some genodermatoses: correlation with cutaneous lesions. Eur J Dermatol 2013;23:581-91.
  • Ravi Prakash SM, Verma S, Sumalatha MN, et al. Oral manifestations of lipoid proteinosis: a case report and literature review. Saudi Dent J 2013;25:91-4.
  • Epple A, Hoxha E, Schneiderbauer R, et al. Hyalinosis cutis et mucosae: a clinical investigation with special regard to mucosal changes. J Dtsch Dermatol Ges 2018;16:211-3.
  • Lee KC, Peters SM, Ko YCK, et al. Oral manifestations of lipoid proteinosis in a 10-year old female: a case report and literature update. Oral Surg Oral Med Oral Pathol Oral Radiol 2018;126:228-32.
  • Lourenco AG, Araujo VC, Passador-Santos F, et al. Lipoid proteinosis: a rare disease in pediatric dentistry. Braz Dent J 2020;31:186-9.
  • Meletti S, Cantalupo G, Santoro F, et al. Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature. Epileptic Disord 2014;16:518-27.
  • Agredano PM, Del Barrio CM, Martinez MC, et al. Intracranial calcifications associated with epilepsy: a case report of lipoid proteinosis. Seizure 2020;83:172-4.
  • Chandrasekaran S, Nanjundan M, Natarajan S, et al. Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications. Radiol Case Rep 2016;10:1121.
  • Oguz AE, Dincsoy BF, Baykal C, et al. The characteristics and long-term course of epilepsy in lipoid proteinosis: a spectrum from mild to severe seizures in relation to ECM1 mutations. Clin EEG Neurosci 2018;49:192-6.
  • 41. de Rezende Pinto WB, de Souza PV, Pedroso JL, et al. Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features. Clin Neurol Neurosurg 2014;126:169-70.
  • Appenzeller S, Chaloult E, Velho P, et al. Amygdalae calcifications associated with disease duration in lipoid proteinosis. J Neuroimaging 2006;16:154-6.
  • Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. Brain 2003;126:2627-37.
  • Kamath SJ, Marthala H, Manapragada B. Ocular manifestations in lipoid proteinosis: a rare clinical entity. Indian J Ophthalmol 2015;63:793-5.
  • Abtahi SM, Kianersi F, Abtahi MA, et al. Urbach wiethesyndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis. Case Rep Med 2012;2012:281516.
  • Mandal S, Dutta P, Venkatesh P, et al. Bilateral lens subluxation in a case of lipoid proteinosis. J Cataract Refract Surg 2007;33:1469-70.
  • Acar U, Yildiz EH, Yuksel D, Ustun H, Unlu N. Keratoconus in a case of lipoid proteinosis. Eye Contact Lens 2013;39:e25-7.
  • Hofer PA, Ohman J. Laryngeal lesions in Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A histopathological and clinical study, including direct laryngoscopical examinations. Acta Pathol Microbiol Scand A 1974;82:547-58.
  • Savage MM, Crockett DM, McCabe BF. Lipoid proteinosis of larynx: a cause of voice change in the infant and young child. Int J Pediatr Otorhinolaryngol 1988;15:33-8.
  • Black MM. Lipoid proteinosis, metabolic and nutritional disorders. In: Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Rook/Wilkison/Ebling textbook of dermatology. 6th ed. Oxford: Blackwell Science; 1998. pp. 2460-2.
  • Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149-55.
  • Ajdarkosh H, Shirzad S, Taher M,et al. Lipoid proteinosis: a case report Urbach & Wiethe disease. Govaresh 2011;16:200-3.
  • Malekzad F, Rahimi H, Lotfi S, et al. Lipoid proteinosis in two Iranian sisters: a case report and review of literature. Iran Red Crescent Med J 2011;13:280-2.
  • Al-Bitar Y, Samdani AJ. Lipoid proteinosis in two brothers with multiple organ involvement from Saudi Arabia. Int J Dermatol 2004;43:360-1.
  • Caccamo D, Jaen A, Telenta M, et al. Lipoid proteinosis of the small bowel. Arch Pathol Lab Med 1994;118:572-4.
  • Rao R, Prabhu SS, Sripathi H, Gupta S. Vesiculobullous lesions in lipoid proteinosis: a case report. Dermatol Online J 2008;14:16.
  • Ko C, Barr RJ. Vesicular lesions in a patient with lipoid proteinosis: a probable acantholytic dermatosis. Am J Dermatopathol 2003;25:335‑7.
  • Touart DM, Sau P. Cutaneous deposition diseases. Part I. J Am Acad Dermatol 1998;39:149‑71.
  • Celik H, Aksoy M, An I, et al. The investigation of oxidative stress parameters in patients with lipoid proteinosis. J Harran Univ Med Fac 2019;16:1-7.
  • Aksoy M, An I. Evaluation of inflammatory parameters in lipoid proteinosis patients. Dermatol Ther 2020;33:14495.
  • Vural C, Gonul II, Dursun A. Laryngeal lipoid proteinosis (Urbach-Wiethe’s disease): a case report. Turk Patoloji Dergisi 2009;25:45-8.
  • Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002;19:359-62.
  • Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541-4.
  • Ozkaya BE, Ozarmagan G, Baykal C, Ulug T. Oral DMSO therapy in 3 patients with lipoid proteinosis. Results of long-term therapy. Hautarzt 1997;48:477-81.
  • Carnevale C, Castiglia D, Diociaiuti A, et al. Lipoid proteinosis: a previously unrecognized mutation and therapeutic response to acitretin. Acta Derm Venereol 2017;97:1249-51.
  • Gruber F, Manestar D, Stasic A, et al. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol 1996;76:154-5.
  • Akoglu G, Karaduman A, Ergin S, et al. Clinical and histopathological response to acitretin therapy in lipoid proteinosis. J Dermatolog Treat 2011;22:178-83.
  • Gunduz O, Sahiner N, Atasoy P, et al. Acitretin treatment for lipoid proteinosis. Case Rep Dermatol Med 2012;2012:324506.
  • Kutlu O, Eksioglu HM. The role of systemic steroids in oral ulcers associated with lipoid proteinosis. Dermatol Ther 2021;34:e14582.
  • Caliskan E, Acikgoz G, Tunca M, et al. Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. Dermatol Ther 2015;13:291-5.

Lipoid proteinozis

Year 2021, Volume: 4 Issue: 2, 30 - 40, 30.06.2021

İsa An Mustafa Aksoy Murat Öztürk Erhan Ayhan

https://doi.org/10.33204/mucosa.936953
Cited By: 2

Abstract

Lipoid proteinozis (LP) deri, muköz membranlar, beyin, iç organlar dahil olmak üzere vücudun çeşitli bölgelerinde, amorf bir hiyalin materyalin birikmesi ile karakterize, nadir görülen otozomal resesif bir genodermatozdur. LP kromozom 1q21’de bulunan ekstraselüler matriks proteini 1 (ECM1)’i kodlayan gendeki mutasyonlardan kaynaklanır. Bu hastalık nadir görülmekle birlikte ülkemizde özellikle akraba evliliklerinin sık olduğu bölgelerde daha fazla bildirilmeye başlanmıştır. Bebeklik döneminde laringeal infiltrasyona bağlı boğuk bir ağlama ile başlar. Zamanla deri ve mukoza değişiklikleri klinik olarak belirgin hale gelir. Etkilenen bireyler, laringeal obstrüksiyon yaşamadıkça normal bir yaşam süresine sahiptir. Bu hastaların takibi için multidisipliner bir yaklaşım önerilmektedir.

Keywords

ECM1 lipoid proteinozis moniliform blepharosis

References

  • Dertlioglu SB, Calik M, Cicek D. Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from Sanliurfa. Int J Dermatol 2014;53:516-23.
  • Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch A Pathol Anat Histol 1929;27:286‑319.
  • Salih MA, Abu-Amero KK, Alrasheed S, et al. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet 2011;12:31.
  • Baykal C, Topkarci Z, Yazganoglu KD, et al. Lipoid proteinosis: a case series from Istanbul. Int J Dermatol 2007;46:1011-6.
  • Hegde RG, Yadav VK, Gajbhiye MI. Lipoid proteinosis: pathognomonic clinical and radiological features. BMJ Case Rep 2014;2014:bcr2014203950.
  • Vahidnezhad H, Youssefian L, Uitto J. Lipoid proteinosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  • Custodio Lima J, Nagasako CK, Montes CG, et al. Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a Brazilian female patient. Case Rep Med 2014;2014:952038.
  • Yukkaldiran A, An I, Erdogan O. Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients. J Cosmet Dermatol 2021;20:2259-63.
  • Gunes B, Karadag R, Uzun L, et al. Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis). Arq Bras Oftalmol 2019;82:242-4.
  • Balestri M, Cappelletti S, Valeriani M, et al. Structural focal temporal lobe seizures in a child with lipoproteinosis. Pediatr Neurol 2015;52:104-6.
  • Frenkel B, Vered M, Taicher S, et al. Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. Clin Oral Investig 2017;21:2245-51.
  • Bakry OA, Samaka RM, Houla NS, et al. Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep 2014;8:29-34.
  • Madura C, Priya A, Chandrashekar BS. Lipoid proteinosis: skin resurfacing with combination of fractional CO2 and non-ablative radio frequency: a rare case report. J Cutan Aesthet Surg 2018;11:91-4.
  • Dogramaci AC, Celik MM, Celik E,et al. Lipoid proteinosis in the eastern Mediterranean region of Turkey. Indian J Dermatol Venereol Leprol 2012;78:318-22.
  • LeWitt TM, Paller AS, Bell A, Zhou X. Lipoid proteinosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.
  • An I, Guldur MA, Aksoy M, et al. Histopathological findings in patients with lipoid proteinosis. Turk J Dermatol 2019;13:99.
  • Ranjan P, Mishra D, Plesec T, et al. Familial moniliform blepharosis: clinical, histopathological and genetic correlation. Ophthalmic Genet 2015;36:160-4.
  • Van Hougenhouck-Tulleken W, Chan I, Hamada T, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413-23.
  • Oz F, Kalekoglu N, Karakullukcu B, et al. Lipoid proteinosis of the larynx. J Laryngol Otol 2002;116:736-9.
  • Yukkaldiran A, Aksoy M, Yesilova Y, et al. The frequency of laryngeal involvement in lipoid proteinosis patients. Ann Med Res 2019;26:909-12.
  • Izadi F, Mahjoubi F, Farhadi M, at al. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. Indian J Med Res 2016;143:303-7.
  • Zhu T, Bai X, Ma D, et al. Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis. Clin Chim Acta 2021;512:122-6.
  • Fujimoto N, Terlizzi J, Aho S, et al. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol 2006;15:300-7.
  • Sung HJ, Johnson CE, Lessner SM, et al. Matrix metalloproteinase 9 facilitates collagen remodeling and angiogenesis for vascular constructs. Tissue Eng 2005;11:267-76.
  • Hamada T, McLean WH, Ramsay M, 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.
  • Afifi HH, Amr KS, Tosson AM, et al. Lipoid proteinosis: A clinical andmolecular study in Egyptian patients. Gene 2017;628:308-14.
  • Dertlioglu SB, Edgunlu TG, Sen DE, et al. Extracellular matrix protein 1 gene mutation in Turkish patients with lipoid proteinosis. Indian J Dermatol 2019;64:436-40.
  • The Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk (last accessed 25 April 2021).
  • Hamada T, Wessagowit V, South AP, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotypephenotype correlation. J Invest Dermatol 2003;120:345-50.
  • Youssefian L, Vahidnezhad H, Daneshpazhooh M, et al. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol 2015;24:220-2.
  • Zaouak A, Zribi H, Eleuch D, et al. Vesiculobullous eruption revealing lipoid proteinosis: a potential diagnostic pitfall. A case report and a brief review. Int J Pediatr Adolesc Med 2015;2:157-60.
  • Nico MM, Hammerschmidt M, Lourenco SV. Oral mucosal manifestations in some genodermatoses: correlation with cutaneous lesions. Eur J Dermatol 2013;23:581-91.
  • Ravi Prakash SM, Verma S, Sumalatha MN, et al. Oral manifestations of lipoid proteinosis: a case report and literature review. Saudi Dent J 2013;25:91-4.
  • Epple A, Hoxha E, Schneiderbauer R, et al. Hyalinosis cutis et mucosae: a clinical investigation with special regard to mucosal changes. J Dtsch Dermatol Ges 2018;16:211-3.
  • Lee KC, Peters SM, Ko YCK, et al. Oral manifestations of lipoid proteinosis in a 10-year old female: a case report and literature update. Oral Surg Oral Med Oral Pathol Oral Radiol 2018;126:228-32.
  • Lourenco AG, Araujo VC, Passador-Santos F, et al. Lipoid proteinosis: a rare disease in pediatric dentistry. Braz Dent J 2020;31:186-9.
  • Meletti S, Cantalupo G, Santoro F, et al. Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature. Epileptic Disord 2014;16:518-27.
  • Agredano PM, Del Barrio CM, Martinez MC, et al. Intracranial calcifications associated with epilepsy: a case report of lipoid proteinosis. Seizure 2020;83:172-4.
  • Chandrasekaran S, Nanjundan M, Natarajan S, et al. Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications. Radiol Case Rep 2016;10:1121.
  • Oguz AE, Dincsoy BF, Baykal C, et al. The characteristics and long-term course of epilepsy in lipoid proteinosis: a spectrum from mild to severe seizures in relation to ECM1 mutations. Clin EEG Neurosci 2018;49:192-6.
  • 41. de Rezende Pinto WB, de Souza PV, Pedroso JL, et al. Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features. Clin Neurol Neurosurg 2014;126:169-70.
  • Appenzeller S, Chaloult E, Velho P, et al. Amygdalae calcifications associated with disease duration in lipoid proteinosis. J Neuroimaging 2006;16:154-6.
  • Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. Brain 2003;126:2627-37.
  • Kamath SJ, Marthala H, Manapragada B. Ocular manifestations in lipoid proteinosis: a rare clinical entity. Indian J Ophthalmol 2015;63:793-5.
  • Abtahi SM, Kianersi F, Abtahi MA, et al. Urbach wiethesyndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis. Case Rep Med 2012;2012:281516.
  • Mandal S, Dutta P, Venkatesh P, et al. Bilateral lens subluxation in a case of lipoid proteinosis. J Cataract Refract Surg 2007;33:1469-70.
  • Acar U, Yildiz EH, Yuksel D, Ustun H, Unlu N. Keratoconus in a case of lipoid proteinosis. Eye Contact Lens 2013;39:e25-7.
  • Hofer PA, Ohman J. Laryngeal lesions in Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A histopathological and clinical study, including direct laryngoscopical examinations. Acta Pathol Microbiol Scand A 1974;82:547-58.
  • Savage MM, Crockett DM, McCabe BF. Lipoid proteinosis of larynx: a cause of voice change in the infant and young child. Int J Pediatr Otorhinolaryngol 1988;15:33-8.
  • Black MM. Lipoid proteinosis, metabolic and nutritional disorders. In: Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Rook/Wilkison/Ebling textbook of dermatology. 6th ed. Oxford: Blackwell Science; 1998. pp. 2460-2.
  • Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149-55.
  • Ajdarkosh H, Shirzad S, Taher M,et al. Lipoid proteinosis: a case report Urbach & Wiethe disease. Govaresh 2011;16:200-3.
  • Malekzad F, Rahimi H, Lotfi S, et al. Lipoid proteinosis in two Iranian sisters: a case report and review of literature. Iran Red Crescent Med J 2011;13:280-2.
  • Al-Bitar Y, Samdani AJ. Lipoid proteinosis in two brothers with multiple organ involvement from Saudi Arabia. Int J Dermatol 2004;43:360-1.
  • Caccamo D, Jaen A, Telenta M, et al. Lipoid proteinosis of the small bowel. Arch Pathol Lab Med 1994;118:572-4.
  • Rao R, Prabhu SS, Sripathi H, Gupta S. Vesiculobullous lesions in lipoid proteinosis: a case report. Dermatol Online J 2008;14:16.
  • Ko C, Barr RJ. Vesicular lesions in a patient with lipoid proteinosis: a probable acantholytic dermatosis. Am J Dermatopathol 2003;25:335‑7.
  • Touart DM, Sau P. Cutaneous deposition diseases. Part I. J Am Acad Dermatol 1998;39:149‑71.
  • Celik H, Aksoy M, An I, et al. The investigation of oxidative stress parameters in patients with lipoid proteinosis. J Harran Univ Med Fac 2019;16:1-7.
  • Aksoy M, An I. Evaluation of inflammatory parameters in lipoid proteinosis patients. Dermatol Ther 2020;33:14495.
  • Vural C, Gonul II, Dursun A. Laryngeal lipoid proteinosis (Urbach-Wiethe’s disease): a case report. Turk Patoloji Dergisi 2009;25:45-8.
  • Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002;19:359-62.
  • Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541-4.
  • Ozkaya BE, Ozarmagan G, Baykal C, Ulug T. Oral DMSO therapy in 3 patients with lipoid proteinosis. Results of long-term therapy. Hautarzt 1997;48:477-81.
  • Carnevale C, Castiglia D, Diociaiuti A, et al. Lipoid proteinosis: a previously unrecognized mutation and therapeutic response to acitretin. Acta Derm Venereol 2017;97:1249-51.
  • Gruber F, Manestar D, Stasic A, et al. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol 1996;76:154-5.
  • Akoglu G, Karaduman A, Ergin S, et al. Clinical and histopathological response to acitretin therapy in lipoid proteinosis. J Dermatolog Treat 2011;22:178-83.
  • Gunduz O, Sahiner N, Atasoy P, et al. Acitretin treatment for lipoid proteinosis. Case Rep Dermatol Med 2012;2012:324506.
  • Kutlu O, Eksioglu HM. The role of systemic steroids in oral ulcers associated with lipoid proteinosis. Dermatol Ther 2021;34:e14582.
  • Caliskan E, Acikgoz G, Tunca M, et al. Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. Dermatol Ther 2015;13:291-5.
There are 70 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Review Articles
Authors

İsa An 0000-0003-3366-4551

Mustafa Aksoy 0000-0002-4303-699X

Murat Öztürk 0000-0002-4499-3724

Erhan Ayhan 0000-0003-1416-2636

Publication Date June 30, 2021
Published in Issue Year 2021 Volume: 4 Issue: 2

Cite

Vancouver An İ, Aksoy M, Öztürk M, Ayhan E. Lipoid proteinosis. Mucosa. 2021;4(2):30-4.

Cited By

Moniliform blepharosis in lipoid proteinosis: A rare case
Indian Journal of Ophthalmology - Case Reports
https://doi.org/10.4103/IJO.IJO_3366_22
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Revista da Associação Médica Brasileira
https://doi.org/10.1590/1806-9282.20220333
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