Literature DB >> 23285466

A novel association of the additional intracranial calcification in lipoid proteinosis: a case report.

Sushil G Kachewar1, Devidas S Kulkarni.   

Abstract

Lipoid Proteinosis (LP) is a genetically linked, autosomally transferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has characteristic intracranial calcifications. Although, the intracranial calcifications can be classified, based on their aetiopathogenesis, as agerelated and physiologic, congenital, infectious, endocrine and metabolic, vascular, and neoplastic; the symmetric calcifications in LP are a distinct entity. To one who is aware of this entity, LP is usually an incidental diagnosis. No permanent cure is available for LP till date. Only symptomatic medical treatment is being given. With the increasing awareness on this entity, LP can now be detected in its early phase and it can be better managed.As this condition is rare, it is necessary to spread awareness on this entity in the scientific community and hence this case is being reported. This case report is the first to demonstrate a novel association of an additional intracranial calcification in Lipoid Proteinosis.

Entities:  

Keywords:  CT scan; Intracranial calcification; Lipoid proteinosis; Skin lesions

Year:  2012        PMID: 23285466      PMCID: PMC3527806          DOI: 10.7860/JCDR/2012/4481.2569

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

Review 1.  Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature.

Authors:  Miquel Callizo; Núria Ibáñez-Flores; Jessica Laue; Vanesa Cuadrado; Xavier Graell; Josep Maria Sancho
Journal:  Orbit       Date:  2011-10

2.  Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis.

Authors:  Azam J Samdani; Abid Azhar; Syed M Shahid; Syeda N Nawab; Rozeena Shaikh; Shah A Qader; Qaisar Mansoor; Bahram K Khoso; Muhammad Ismail
Journal:  J Dermatol Case Rep       Date:  2010-12-31

Review 3.  Lipoid proteinosis of Urbach and Weithe: case report and a brief review of the literature.

Authors:  Monal P Sainani; R Muralidhar; K Parthiban; P Vijayalakshmi
Journal:  Int Ophthalmol       Date:  2011-01-26       Impact factor: 2.031

4.  Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Authors:  Mustafa A Salih; Khaled K Abu-Amero; Saleh Alrasheed; Ibrahim A Alorainy; Lu Liu; John A McGrath; Lionel Van Maldergem; Yasser H Al-Faky; Adel H AlSuhaibani; Darren T Oystreck; Thomas M Bosley
Journal:  BMC Med Genet       Date:  2011-02-24       Impact factor: 2.103

5.  Case report: computed tomography findings in lipoid proteinosis: report of two cases.

Authors:  S S Ozbek; S Akyar; M Turgay
Journal:  Br J Radiol       Date:  1994-02       Impact factor: 3.039

6.  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

7.  Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Authors:  Takahiro Hamada; Vesarat Wessagowit; Andrew P South; Gabrielle H S Ashton; Ien Chan; Noritaka Oyama; Apatorn Siriwattana; Prachiya Jewhasuchin; Somyot Charuwichitratana; Devinder M Thappa; Balasubramanian Jeevankumar; Patsy Lenane; Bernice Krafchik; Kanokvalai Kulthanan; Hiroshi Shimizu; Tamer I Kaya; Mehmet E Erdal; Mauro Paradisi; Amy S Paller; Mariko Seishima; Takashi Hashimoto; John A McGrath
Journal:  J Invest Dermatol       Date:  2003-03       Impact factor: 8.551

8.  Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Authors:  Muhammad Nasir; Amir Latif; Muhammad Ajmal; Reem Qamar; Muhammad Naeem; Abdul Hameed
Journal:  Diagn Pathol       Date:  2011-07-26       Impact factor: 2.644

  8 in total
  3 in total

1.  Lipoid proteinosis: a rare encounter in dental office.

Authors:  Prasannasrinivas Deshpande; Mahima Veeranna Guledgud; Karthikeya Patil; Usha Hegde; Ankita Sahni; Sreeshlya Huchanahalli Sheshanna
Journal:  Case Rep Dent       Date:  2015-03-19

Review 2.  Lipoid proteinosis: Review of Indian cases.

Authors:  Jigna S Shah; Himali A Shah
Journal:  J Oral Maxillofac Pathol       Date:  2022-06-28

3.  Lipoid proteinosis: A rare entity.

Authors:  Bipasha Mukherjee; Pratheeba N Devi
Journal:  Indian J Ophthalmol       Date:  2015-08       Impact factor: 1.848

  3 in total

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