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Page 1
Laryngeal features in Lipoid proteinosis: a systematic review and meta-analysis of individual participant data.
Cocchi C, Milanese A, Abdul-Messie L, Vestri AR, Longo L. Cocchi C, et al. Eur Arch Otorhinolaryngol. 2024 Sep;281(9):4555-4564. doi: 10.1007/s00405-024-08713-x. Epub 2024 May 7. Eur Arch Otorhinolaryngol. 2024. PMID: 38713291
PURPOSE: Lipoid proteinosis (LP) or Urbach-Wiethe disease (OMIM 247100) is a rare syndrome characterised by early vocal folds infiltration and subsequent multi-organ involvement. ...
PURPOSE: Lipoid proteinosis (LP) or Urbach-Wiethe disease (OMIM 247100) is a rare syndrome characterised …
Urbach-Wiethe disease in a young patient without apparent amygdala calcification.
Markowitsch HJ, Staniloiu A, Wahl-Kordon A. Markowitsch HJ, et al. Neuropsychologia. 2023 May 3;183:108505. doi: 10.1016/j.neuropsychologia.2023.108505. Epub 2023 Feb 10. Neuropsychologia. 2023. PMID: 36775051
Urbach-Wiethe disease is an extremely rare genetically-based syndrome which usually leads to dermatological and neurological changes. ...Therefore, several functions modulated by the amygdala are changed in patients with Urbach-Wiethe disease …
Urbach-Wiethe disease is an extremely rare genetically-based syndrome which usually leads to dermatological and neurolo …
Advances in treatment for lipoid proteinosis (Urbach-Wiethe disease): a case report and systematic review.
Bueno-Molina RC, Hernández-Rodríguez JC, Cabrera-Fuentes R, Cabrera-Pérez R, Conejo-Mir Sánchez J, Pereyra-Rodríguez JJ. Bueno-Molina RC, et al. Clin Exp Dermatol. 2024 May 21;49(6):547-555. doi: 10.1093/ced/llae039. Clin Exp Dermatol. 2024. PMID: 38308656
BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. ...
BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive g …
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Li M, Fischer J, Safwat S, Shoman W, Chazli YE, Alter S, Has C, Abdalla E. Li M, et al. Pediatr Dermatol. 2023 Jan;40(1):113-119. doi: 10.1111/pde.15105. Epub 2022 Aug 4. Pediatr Dermatol. 2023. PMID: 36670503
BACKGROUND/OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss-of-function pathogenic variants in the extracellular matrix protein-1 (ECM1) gene. ...CONCLUSIONS: Although all patients had characteristic manif …
BACKGROUND/OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss-of-fu …
Evaluation of choroidal thickness and ocular manifestations in lipoid proteinosis.
Özgür A, An İ. Özgür A, et al. Int Ophthalmol. 2023 Jan;43(1):239-247. doi: 10.1007/s10792-022-02422-2. Epub 2022 Jul 17. Int Ophthalmol. 2023. PMID: 35842887
PURPOSE: To assess choroidal thickness in patients with lipoid proteinosis versus healthy subjects using enhanced depth imaging optical coherence tomography. ...CONCLUSION: Patients with lipoid proteinosis have thicker choroid compared to control eyes. …
PURPOSE: To assess choroidal thickness in patients with lipoid proteinosis versus healthy subjects using enhanced depth imagin …
Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome).
Taskin S, Celik H, Taskin A, Aksoy M, An I, Yesilova Y. Taskin S, et al. Rev Assoc Med Bras (1992). 2022 Sep;68(9):1259-1263. doi: 10.1590/1806-9282.20220333. Rev Assoc Med Bras (1992). 2022. PMID: 36134773 Free PMC article.
This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis. METHODS: The study group involved 17 patients with lipoid proteinosis and 17 healthy controls …
This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from …
Are the kidneys involved in lipoid proteinosis? Study of 22 patients.
Yilmaz K, An I, Sahin S, Sahutoglu T. Yilmaz K, et al. Int J Clin Pract. 2021 Aug;75(8):e14329. doi: 10.1111/ijcp.14329. Epub 2021 May 17. Int J Clin Pract. 2021. PMID: 33999483
AIM: Lipoid proteinosis (LP) is a systemic, progressive, rare genodermatosis that manifests in early life with mucocutaneous lesions. ...
AIM: Lipoid proteinosis (LP) is a systemic, progressive, rare genodermatosis that manifests in early life with mucocutaneous l …
Lipoid proteinosis: A systematic presentation of an unusual disease.
Mofarrah R, Ghasemi M, Mofarrah R, Emadi S, Rostamian F. Mofarrah R, et al. J Cosmet Dermatol. 2022 Oct;21(10):4237-4240. doi: 10.1111/jocd.14861. Epub 2022 Feb 23. J Cosmet Dermatol. 2022. PMID: 35176194
BACKGROUND: Lipoid proteinosis (LP) or Hyalinosis Cutis et Mucosae or Urbach-Wiethe disease is a rare autosomal recessive genodermatosis characterized by an amorphous hyaline material deposition in the skin mucosa and viscera. ...
BACKGROUND: Lipoid proteinosis (LP) or Hyalinosis Cutis et Mucosae or Urbach-Wiethe disease is a rare aut …
Novel features in dermoscopy of lipoid proteinosis.
Ray A, Agrawal I, Singh BS, Kar BR. Ray A, et al. Indian J Dermatol Venereol Leprol. 2023 Jan-Frebuary;89(1):116-118. doi: 10.25259/IJDVL_1027_2021. Indian J Dermatol Venereol Leprol. 2023. PMID: 36331838 Free article. No abstract available.
28 results