Literature DB >> 25593816

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings.

Rekha Thaddanee1, Ajeet Kumar Khilnani2, Purna Pandya3, Mayank Chaturvedi4.   

Abstract

Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur. Characteristic skin lesions include multiple brown atrophic scars over face and distal extremities, beaded papules over the margins of the eyelids and verrucous nodules over the friction bearing areas (elbows, knees). The overall prognosis is good. There is no definitive treatment.

Entities:  

Keywords:  Autosomal recessive disease; Urbach-Wiethe disease; hyalinosis cutis et mucosae; lipoid proteinosis

Year:  2014        PMID: 25593816      PMCID: PMC4290189          DOI: 10.4103/2229-5178.146168

Source DB:  PubMed          Journal:  Indian Dermatol Online J        ISSN: 2229-5178


  6 in total

Review 1.  Lipoid proteinosis.

Authors:  T Hamada
Journal:  Clin Exp Dermatol       Date:  2002-11       Impact factor: 3.470

Review 2.  Lipoid proteinosis: case report and review of the literature.

Authors:  S Di Giandomenico; R Masi; D Cassandrini; M El-Hachem; R De Vito; C Bruno; F M Santorelli
Journal:  Acta Otorhinolaryngol Ital       Date:  2006-06       Impact factor: 2.124

Review 3.  Lipoid proteinosis.

Authors:  I Caro
Journal:  Int J Dermatol       Date:  1978-06       Impact factor: 2.736

4.  Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Authors:  Takahiro Hamada; W H Irwin McLean; Michele Ramsay; Gabrielle H S Ashton; Arti Nanda; Trefor Jenkins; Isobel Edelstein; Andrew P South; Oliver Bleck; Vesarat Wessagowit; Rajeev Mallipeddi; Guy E Orchard; Hong Wan; Patricia J C Dopping-Hepenstal; Jemima E Mellerio; Neil V Whittock; Colin S Munro; Maurice A M van Steensel; Peter M Steijlen; Jian Ni; Lurong Zhang; Takashi Hashimoto; Robin A J Eady; John A McGrath
Journal:  Hum Mol Genet       Date:  2002-04-01       Impact factor: 6.150

5.  Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease.

Authors:  Michaela Siebert; Hans J Markowitsch; Peter Bartel
Journal:  Brain       Date:  2003-08-22       Impact factor: 13.501

Review 6.  The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

Authors:  Ien Chan; Lu Liu; Takahiro Hamada; Gomathy Sethuraman; John A McGrath
Journal:  Exp Dermatol       Date:  2007-11       Impact factor: 3.960

  6 in total
  1 in total

1.  Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO2 and Non-ablative Radio Frequency: A Rare Case Report.

Authors:  Chandraiah Madura; Arti Priya; Byalekere Shivanna Chandrashekar
Journal:  J Cutan Aesthet Surg       Date:  2018 Apr-Jun
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.