Literature DB >> 20559639

[Micronodular thickening of eyelid margins. Initial findings of a general disease].

C Huchzermeyer1, A Ćirković, L Holbach.   

Abstract

A 9-year-old boy presented with bilateral chronic thickening of the upper and lower eyelid margins with bead-like papules. The voice was hoarse due to a previously diagnosed thickening of the vocal cords. There was a history of recurrent abscesses of the parotid gland and of attention deficit hyperactivity disorder (ADHD).The eyelid changes were recognized as monoliform blepharitis and the diagnosis of lipoid proteinosis (Urbach-Wiethe disease) was confirmed by eyelid biopsy. The diagnosis of this systemic disease explained the other signs and symptoms of the patient.

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Year:  2010        PMID: 20559639     DOI: 10.1007/s00347-010-2199-3

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  7 in total

1.  [Differential eyelid tumors diagnosis. II].

Authors:  L Holbach; A Jünemann; A Viestenz; A Nasr
Journal:  Ophthalmologe       Date:  2002-06       Impact factor: 1.059

2.  Amygdalae calcifications associated with disease duration in lipoid proteinosis.

Authors:  Simone Appenzeller; Erik Chaloult; Paulo Velho; Elemir Macedo de Souza; Verônica Zanardi Araújo; Fernando Cendes; Li Min Li
Journal:  J Neuroimaging       Date:  2006-04       Impact factor: 2.486

3.  [Ocular manifestations of the Urbach-Wiethe Syndrome. Hyalitis of the skin and the mucosa].

Authors:  J François; J Bacskulin; P Follmann
Journal:  Ophthalmologica       Date:  1968       Impact factor: 3.250

4.  Lipoid proteinosis (Urbach-Wiethe disease).

Authors:  C Costagliola; M Verolino; P Landolfo; N R Winkler; L Mastropasqua; V Landolfo
Journal:  Ophthalmologica       Date:  1999       Impact factor: 3.250

5.  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

6.  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

7.  [Epiphora as the leading symptom of Urbach-Wiethe syndrome in a sibling pair].

Authors:  H L Knorr; H F Meythaler; G O Naumann
Journal:  Fortschr Ophthalmol       Date:  1991
  7 in total
  2 in total

Review 1.  [Therapy options for malignant eyelid tumors].

Authors:  M Weiling; A Bergua; F E Kruse; L Holbach
Journal:  Ophthalmologe       Date:  2016-12       Impact factor: 1.059

2.  Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis.

Authors:  Seyed-Mojtaba Abtahi; Farzan Kianersi; Mohammad-Ali Abtahi; Seyed-Hossein Abtahi; Arash Zahed; Hamid-Reza Fesharaki; Zahra-Alsadat Abtahi; Shahzad Baradaran; Mehdi Mazloumi; Saeed Naghiabadi
Journal:  Case Rep Med       Date:  2012-07-31
  2 in total

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