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Artykuły w czasopismach na temat „Urbach-Wiethe disease”

Autor: Grafiati
Data publikacji: 2 czerwca 2025
Data aktualizacji: 31 lipca 2025

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1

Rallis, Efstathios, Dimitrios G. Balatsouras, Pavlos Papadakis, Nicolas C. Economou, Antonis Kaberos, and Stavros Korres. "Urbach–Wiethe disease." International Journal of Pediatric Otorhinolaryngology Extra 1, no. 1 (2006): 1–4. http://dx.doi.org/10.1016/j.pedex.2005.10.001.

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2

Tiwary, Anup Kumar. "Urbach-Wiethe Disease." Indian Pediatrics 55, no. 10 (2018): 923. http://dx.doi.org/10.1007/s13312-018-1413-2.

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3

Koganti, Deepthi. "Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice." International Journal of Phonosurgery & Laryngology 3, no. 2 (2013): 61–64. http://dx.doi.org/10.5005/jp-journals-10023-1065.

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ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the
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4

Kucuk, Ulku, IsinG Erdogan, Umit Bayol, Nazife Hacioglu, Ibrahim Cukurova, and Cengiz Bicakci. "Urbach-Wiethe disease (lipoid proteinosis)." Indian Journal of Pathology and Microbiology 55, no. 3 (2012): 375. http://dx.doi.org/10.4103/0377-4929.101749.

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5

KELLY, J. E., M. T. SIMPSON, D. JONATHAN, and T. E. HOLLWAY. "LIPOID PROTEINOSIS: URBACH-WIETHE DISEASE." British Journal of Anaesthesia 63, no. 5 (1989): 609–11. http://dx.doi.org/10.1093/bja/63.5.609.

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6

Cinaz, P., T. Güvenir, and G. Gönlügen. "Lipoid proteinosis: Urbach-Wiethe disease." Acta Paediatrica 82, no. 11 (1993): 892–93. http://dx.doi.org/10.1111/j.1651-2227.1993.tb12590.x.

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7

Cinaz, P., T. Güvenir, and G. Gönlügen. "Lipoid proteinosis: Urbach-Wiethe disease." Acta Paediatrica 82, no. 10 (1993): 892–93. http://dx.doi.org/10.1111/j.1651-2227.1993.tb17638.x.

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8

Costagliola, C., M. Verolino, P. Landolfo, N. R. Winkler, L. Mastropasqua, and V. Landolfo. "Lipoid Proteinosis (Urbach-Wiethe Disease)." Ophthalmologica 213, no. 6 (1999): 392–96. http://dx.doi.org/10.1159/000027461.

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9

Staut, Claudio C. V., and Thomas P. Naidich. "Urbach-Wiethe Disease(Lipoid Proteinosis)." Pediatric Neurosurgery 28, no. 4 (1998): 212–14. http://dx.doi.org/10.1159/000028653.

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10

Kurtuluş, B., O. Dog?an Onur, V. Olgac, A. Balik, and B. Batur. "OC12 Lipoid proteinosis (Urbach-Wiethe disease)." Oral Diseases 12, s1 (2006): 12. http://dx.doi.org/10.1111/j.1601-0825.2006.01308_12.x.

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11

Disdier, P., J. R. Harlé, L. Andrac, L. Swiader, and P. J. Weiller. "Specific Xerostomia during Urbach-Wiethe Disease." Dermatology 188, no. 1 (1994): 50–51. http://dx.doi.org/10.1159/000247086.

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12

Shetty, Deepa, Kira Pariath, Paras Patel, and Sanjay Vansh. "Urbach-Wiethe disease: a rare pediatric case report." International Journal of Contemporary Pediatrics 10, no. 12 (2023): 1872–75. http://dx.doi.org/10.18203/2349-3291.ijcp20233615.

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Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.1 It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent important consequences.4 Rarely, the central nervous system and respiratory tract ma
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13

Teive, H. A., E. Ruschel, and R. P. Munhoz. "Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease." Neurology 80, no. 18 (2013): 1720–21. http://dx.doi.org/10.1212/01.wnl.0000430259.37814.f5.

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14

Messina, M. J., G. Nuzzaco, A. Barbieri, et al. "Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease." Neurology 79, no. 16 (2012): 1740–41. http://dx.doi.org/10.1212/wnl.0b013e31826e9a49.

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15

Banerjee, Prabrisha, and Bipasha Mukherjee. "Urbach–wiethe disease: Hyalinosis cutis et mucosae." Oman Journal of Ophthalmology 14, no. 3 (2021): 196. http://dx.doi.org/10.4103/ojo.ojo_29_21.

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16

Kobernik, М. Yu, V. D. Elkin, and Т. G. Sedova. "A clinical case of Urbach-Wiethe disease." Perm Medical Journal 40, no. 6 (2024): 107–13. http://dx.doi.org/10.17816/pmj406107-113.

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A clinical description of Urbach – Wiethe disease (lipoid proteinosis), an extremely rare pathology, is presented, currently only 300 cases are known. This hereditary disease, transmitted by an autosomal recessive type, is associated with a mutation of the extracellular matrix 1 (ECM1) gene located on chromosome 1, locus 1q21. It is based on a violation of collagen synthesis and deposition of hyaline in the dermis along the collagen fibers, in the mucous membranes, sometimes in the internal organs. The chemical composition of hyaline is not completely determined; it is noted that it includes c
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17

Thaddanee, Rekha, AjeetKumar Khilnani, Purna Pandya, and Mayank Chaturvedi. "Lipoid proteinosis (Urbach-Wiethe disease) in two siblings." Indian Dermatology Online Journal 5, no. 6 (2014): 95. http://dx.doi.org/10.4103/2229-5178.146168.

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18

Prasad, P. V. S., and G. C. Sahoo. "Lipoid proteinosis (urbach wiethe disease)-A case report." Indian Journal of Otolaryngology and Head and Neck Surgery 52, no. 2 (2000): 172–73. http://dx.doi.org/10.1007/bf03000342.

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19

Irkeç, Murat, Mehmet Orhan, Diclehan Orhan, Barbaros Durgun, and Çigdem Can. "Dry Eye Syndrome Associated With Urbach-Wiethe Disease." Journal of Pediatric Ophthalmology & Strabismus 33, no. 5 (1996): 265–68. http://dx.doi.org/10.3928/0191-3913-19960901-13.

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20

Daye, Munise, Seda Doğan, İnci Mevlitoğlu, Sarenur Esener, and Hatice Toy. "Lipoid proteinosis (Urbach-Wiethe disease): A case report." TURKDERM 48, S2 (2014): 114–16. http://dx.doi.org/10.4274/turkderm.48.s30.

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21

Aliev, A. Sh, E. V. Koldarova, B. I. Mukhamedov, and M. N. Solmetova. "Urbach — Wiethe disease — life without fear (clinical case)." Russian Journal of Clinical Dermatology and Venereology 23, no. 2 (2024): 221. http://dx.doi.org/10.17116/klinderma202423021221.

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22

Hernández, Ana Luisa de Carvalho Cardozo, Gabriel Saboia de Araújo Torres, Thiago Trajano da Silva, et al. "Intracranial hemorrhage in a patient with Urbach-Wiethe disease." Arquivos de Neuro-Psiquiatria 82, no. 11 (2024): 001–2. http://dx.doi.org/10.1055/s-0044-1789227.

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23

Scully, C., J. Langdon, and J. Evans. "Marathon of eponyms: 21 Urbach-Wiethe disease (Lipoid proteinosis)." Oral Diseases 17, no. 7 (2011): 729–30. http://dx.doi.org/10.1111/j.1601-0825.2009.01553.x.

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24

Raghuvanshi, Satyendra, Sheik Abdul Raheem, and Bharat Hosur. "Small Symmetric Calcifications of Amygdalae in Urbach-Wiethe Disease." Neurology India 72, no. 1 (2024): 215–16. http://dx.doi.org/10.4103/neurol-india.neurol-india-d-23-00699.

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25

Batra, Kadambari, Anil Safaya, and Kiran Aggarwal. "Lipoid Proteinosis (Urbach-Wiethe Disease): A Case Report from India." Ear, Nose & Throat Journal 87, no. 9 (2008): 531–36. http://dx.doi.org/10.1177/014556130808700914.

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26

Claeys, Kristl G., Lieve R. F. Claes, Johan W. M. Van Goethem, et al. "Epilepsy and migraine in a patient with Urbach–Wiethe disease." Seizure 16, no. 5 (2007): 465–68. http://dx.doi.org/10.1016/j.seizure.2007.02.014.

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27

HOFER, P. Å. "Urbach-Wiethe disease (Lipoglycoproteinosis; Lipoid proteinosis; Hyalinosis cutis et mucosae)." Hereditas 77, no. 2 (2009): 209–18. http://dx.doi.org/10.1111/j.1601-5223.1974.tb00934.x.

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28

Fernandes, Ighor Andrade, Rafaela Nogueira Moreira Gonçalves, Cássio Roberto Rocha Dos Santos, et al. "Lipoid Proteinosis (Urbach-Wiethe Disease): Detailed Clinicopathologic Features of A Rare Disease." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 126, no. 3 (2018): e42. http://dx.doi.org/10.1016/j.oooo.2018.02.032.

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29

Arora, Raisa, Vandana Kohli, and Vikas Kumar. "Eye involvement in lipoid proteinosis: A rare clinically forgotten entity." Journal of Ophthalmic Research and Practice 1 (December 2, 2023): 76–78. http://dx.doi.org/10.25259/jorp_31_2023.

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Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis having multisystem syndromic involvement of skin, upper aerodigestive tract, internal organs, and eyelids. Although the ocular manifestations are rare, it is important to identify these clinical entities for early diagnosis and improved outcomes. We, hereby, describe a case of a 17-year-old female who presented with complaints of chronic itching and discomfort of both eyelids on and off.
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30

Koen, N., J. Fourie, D. Terburg, et al. "Translational neuroscience of basolateral amygdala lesions: Studies of urbach-wiethe disease." Journal of Neuroscience Research 94, no. 6 (2016): 504–12. http://dx.doi.org/10.1002/jnr.23731.

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31

Siebert, M. "Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease." Brain 126, no. 12 (2003): 2627–37. http://dx.doi.org/10.1093/brain/awg271.

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32

Hofer, P. Å., and J. Öhman. "LARYNGEAL LESIONS IN URBACH-WIETHE DISEASE (LIPOGLYCOPROTEINOSIS; LIPOID PROTEINOSIS; HYALINOSIS CUTIS ET MUCOSAE)." Acta Pathologica Microbiologica Scandinavica Section A Pathology 82A, no. 4 (2009): 547–58. http://dx.doi.org/10.1111/j.1699-0463.1974.tb00385.x.

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33

Quirici, M. B., and A. J. da Rocha. "Teaching NeuroImages: Lipoid proteinosis (Urbach-Wiethe disease): Typical findings in this rare genodermatosis." Neurology 80, no. 9 (2013): e93-e93. http://dx.doi.org/10.1212/wnl.0b013e3182840741.

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34

Hurlemann, René, Michael Wagner, Barbara Hawellek, et al. "Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease." Neuropsychologia 45, no. 5 (2007): 877–84. http://dx.doi.org/10.1016/j.neuropsychologia.2006.08.027.

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35

Pinto, Wladimir Bocca Vieira de Rezende, Paulo Victor Sgobbi de Souza, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini. "Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features." Clinical Neurology and Neurosurgery 126 (November 2014): 169–70. http://dx.doi.org/10.1016/j.clineuro.2014.08.035.

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36

Markowitsch, H. J. "The amygdala's contribution to memory - a study on two patients with Urbach- Wiethe disease." Neurocase 3, no. 4 (1997): 267g—274. http://dx.doi.org/10.1093/neucas/3.4.267-g.

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37

Markowitsch, Hans J., Pasquale Calabrese, Michael Wiirker та ін. "The amygdalaʼs contribution to memory—a study on two patients with Urbach-Wiethe disease". NeuroReport 5, № 11 (1994): 1349–52. http://dx.doi.org/10.1097/00001756-199406000-00014.

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38

Markowitsch, Hans J., Pasquale Calabrese, Michael Würker та ін. "The amygdalaʼs contribution to memory—a study on two patients with Urbach–Wiethe disease". NeuroReport 5, № 11 (1994): 1349–52. http://dx.doi.org/10.1097/00001756-199406270-00013.

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39

Abril-Jaramillo, J., R. Mondéjar, M. Lucas, B. García-Bravo, J. J. Ríos-Martin, and J. M. García-Moreno. "Lipoid proteinosis or Urbach-Wiethe disease: description of a new case with cerebral involvement." Neurología (English Edition) 32, no. 2 (2017): 125–27. http://dx.doi.org/10.1016/j.nrleng.2015.04.002.

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40

Özdemir, HüseyinNezih, Cem Çallı, Figen Gökçay, and Ahmet Gökçay. "Urbach--Wiethe disease: A rare cause of bilateral mesial temporal lobe involvement and cerebral hemorrhage." Annals of Indian Academy of Neurology 25, no. 3 (2022): 526. http://dx.doi.org/10.4103/aian.aian_832_21.

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41

Gehlot, RavindraK, LalitK Raiger, and Sudeshna Goswami. "Anaesthetic considerations in a child with Urbach Wiethe disease posted for removal of cheek swelling." Indian Journal of Anaesthesia 64, no. 11 (2020): 982. http://dx.doi.org/10.4103/ija.ija_932_20.

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42

Callizo, Miquel, Núria Ibáñez-Flores, Jessica Laue, Vanesa Cuadrado, Xavier Graell, and Josep Maria Sancho. "Eyelid Lesions in Lipoid Proteinosis or Urbach-Wiethe Disease: Case Report and Review of the Literature." Orbit 30, no. 5 (2011): 242–44. http://dx.doi.org/10.3109/01676830.2011.579685.

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43

Sargenti Neto, Sergio, Jonas Dantas Batista, and Antônio Francisco Durighetto. "A case of oral recurrent ulcerative lesions in a patient with lipoid proteinosis (Urbach–Wiethe disease)." British Journal of Oral and Maxillofacial Surgery 48, no. 8 (2010): 654–55. http://dx.doi.org/10.1016/j.bjoms.2009.10.006.

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44

Omrani, Hossein Ghelichnia, Masih Tajdini, Babak Ghelichnia, et al. "Should we think of Urbach–Wiethe disease in refractory epilepsy? Case report and review of the literature." Journal of the Neurological Sciences 320, no. 1-2 (2012): 149–52. http://dx.doi.org/10.1016/j.jns.2012.06.019.

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45

Abtahi, Seyed-Mojtaba, Farzan Kianersi, Mohammad-Ali Abtahi, et al. "Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis." Case Reports in Medicine 2012 (2012): 1–7. http://dx.doi.org/10.1155/2012/281516.

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Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; sclera; trabecular meshwork; iris/pupil; lens and zonular fibers; retina; nasolacrimal duct. This paper provides a review on the pathogenesis and the diverse ocular manifestations seen in UWS patients. Un
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46

Betül, YAZMACI, Sinan DOĞAN M., and YAVUZ Izzet. "Dentist Approach and Oral Hygiene Guidance in Lipoid Proteinosis Patients: A Case Report." INTERNATIONAL JOURNAL OF HEALTH & MEDICAL RESEARCH 04, no. 05 (2025): 266–70. https://doi.org/10.5281/zenodo.15409264.

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Lipoid Proteinosis is a rare autosomal recessive disease characterized by abnormal accumulation of amorphous hyaline material in various tissues of the body including the skin, larynx, oral cavity, internal organs and central nervous system. This disease is more common in regions where consanguineous marriages are common. Lipoid proteinosis is caused by mutations in the extracellular matrix protein 1 (ECM1) gene located on chromosome 1q21. Its histopathological feature is the deposition of pale, eosinophilic, PAS (+), hyaline-looking material in the papillary dermis, dermoepidermal junction, a
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47

Brand, Matthias, Fabian Grabenhorst, Katrin Starcke, Marie M. P. Vandekerckhove, and Hans J. Markowitsch. "Role of the amygdala in decisions under ambiguity and decisions under risk: Evidence from patients with Urbach-Wiethe disease." Neuropsychologia 45, no. 6 (2007): 1305–17. http://dx.doi.org/10.1016/j.neuropsychologia.2006.09.021.

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48

Meletti, Stefano, Gaetano Cantalupo, Francesca Santoro, et al. "Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature." Epileptic Disorders 16, no. 4 (2014): 518–27. http://dx.doi.org/10.1684/epd.2014.0696.

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49

Hortensius, Ruud, David Terburg, Barak Morgan, Dan J. Stein, Jack van Honk, and Beatrice de Gelder. "The dynamic consequences of amygdala damage on threat processing in Urbach–Wiethe Disease. A commentary on Pishnamazi et al. (2016)." Cortex 88 (March 2017): 192–97. http://dx.doi.org/10.1016/j.cortex.2016.07.013.

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50

Lupo, I., A. B. Cefalu, M. R. Bongiorno, et al. "A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily." British Journal of Dermatology 153, no. 5 (2005): 1019–22. http://dx.doi.org/10.1111/j.1365-2133.2005.06842.x.

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