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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Ocular, otic, gastrointestinal, and endocrine manifestations of lipoid proteinosis

Ocular, otic, gastrointestinal, and endocrine manifestations of lipoid proteinosis
Ocular manifestations
Trichiasis[1]
Madarosis[1]
Conjunctival nodules[1]
Punctate keratitis[1]
Epiphora[2]
Bilateral uveitis[3]
Corectopia (displacement of the pupils)[4]
Bilateral lens subluxation[5]
Prominent corneal nerves[1]
Keratoconus[6]
Glaucoma[7]
Cataract[7]
Esotropia[8]
Otic manifestations
Increase in hearing thresholds (deposition of hyaline material in the cochlea)[9]
Gastrointestinal manifestations
Esophageal aperistalsis[10]
Xerostomia[11]
Hyaline nodules within the gastrointestinal tract[12]
Endocrine manifestations
Insulin resistance diabetes[13]
Short stature[14]
Renal manifestations
Multiple simple renal cysts[15]
References:
  1. Al-Faky YH, Bosley TM, Al-Turki T, et al. Prominent corneal nerves: a novel sign of lipoid proteinosis. Br J Ophthalmol 2012; 96:935.
  2. Ali MJ, Mishra DK, Naik MN. Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature. Orbi 2018.
  3. Abtahi SM, Kianersi F, Abtahi MA, et al. Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis. Case Rep Med 2012.
  4. Johnson LN, Hepler RS. Corectopia and lipoid proteinosis. Br J Ophthalmol 1989; 73:394.
  5. Mandal S, Dutta P, Venkatesh P, et al. Bilateral lens subluxation in a case of lipoid proteinosis. J Cataract Refract Surg 2007; 33:1469.
  6. Acar U, Yildiz EH, Yuksel D, et al. Keratoconus in a case of lipoid proteinosis. Eye Contact Lens 2013; 39:e25.
  7. Sellami D, Masmoudi A, Turki H, et al. [Ophthalmic manifestations of lipoid proteinosis]. Presse Med 2006; 35:796.
  8. Tabassum H, Mushtaq S, Amin SS, et al. Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings. Indian J Dermatol 2020; 65:53.
  9. Yukkaldıran A, An İ, Erdoğan O. Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients. J Cosmet Dermatol 2020.
  10. Afshar B, Sadeghi A, Amani M, Ali Asgari A. Esophageal Aperistalsis in a Patient with Lipoid Proteinosis. Middle East J Dig Dis 2018; 10:55.
  11. Disdier P, Harlé JR, Andrac L, et al. Specific xerostomia during Urbach-Wiethe disease. Dermatology 1994; 188:50.
  12. Custódio 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.
  13. Kurtoglue S, Atabek ME, Adal E, Pirgon O. Insulin resistance in two adolescent siblings with lipoid proteinosis. Int J Dermatol 2007; 46:543.
  14. Poyrazoğlu Ş, Günöz H, Darendeliler F. Severe short stature: an unusual finding in lipoid proteinosis. J Clin Res Pediatr Endocrinol 2008; 1:97.
  15. Yilmaz K, An I, Sahin S, Sahutoglu T. Are the kidneys involved in lipoid proteinosis? Study of 22 patients. Int J Clin Pract 2021; 75:e14329.
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