Literature DB >> 3930616

Melanin macroglobules as a cellular marker of neurofibromatosis: a quantitative study.

R L Martuza, I Philippe, T B Fitzpatrick, J Zwaan, Y Seki, J Lederman.   

Abstract

To investigate the usefulness of melanin macroglobules (MMG) as a cellular marker for neurofibromatosis, their density was quantified in biopsies of café-au-lait spots (macules) (CALM) from 22 patients with von Recklinghausen's neurofibromatosis, 6 patients with bilateral acoustic neurofibromatosis, and 19 controls. The density of MMG was significantly higher in biopsies of the CALM of patients with von Recklinghausen's neurofibromatosis than in patients with bilateral acoustic neurofibromatosis (p less than .01) or controls (p less than .0008). The mode of acquisition of von Recklinghausen's neurofibromatosis (inherited vs new mutation) was not related to the density of MMG. On light microscopy, 14/22 (64%) patients with von Recklinghausen's neurofibromatosis had 11 or more MMG per 5 high-power fields. In contrast, none of the other two groups had more than 10 MMG per 5 high-power fields.

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Year:  1985        PMID: 3930616     DOI: 10.1111/1523-1747.ep12276952

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  9 in total

1.  In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells.

Authors:  Jennifer Allouche; Nathalia Bellon; Manoubia Saidani; Laure Stanchina-Chatrousse; Yolande Masson; Anand Patwardhan; Floriane Gilles-Marsens; Cédric Delevoye; Sophie Domingues; Xavier Nissan; Cécile Martinat; Gilles Lemaitre; Marc Peschanski; Christine Baldeschi
Journal:  Proc Natl Acad Sci U S A       Date:  2015-07-06       Impact factor: 11.205

2.  A cell culture study on melanocytes from patients with neurofibromatosis-1.

Authors:  D Kaufmann; W Krone; R Hochsattel; R Martin
Journal:  Arch Dermatol Res       Date:  1989       Impact factor: 3.017

Review 3.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

4.  Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1).

Authors:  D Kaufmann; S Wiandt; J Veser; W Krone
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

5.  Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.

Authors:  A Fois; L Calistri; P Balestri; R Vivarelli; G Bartalini; L Mancini; A Berardi; M Vanni
Journal:  Eur J Pediatr       Date:  1993-06       Impact factor: 3.183

6.  Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.

Authors:  M Stark; G Assum; D Kaufmann; H Kehrer; W Krone
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

7.  Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1.

Authors:  I Eisenbarth; S Hoffmeyer; D Kaufmann; G Assum; W Krone
Journal:  Arch Dermatol Res       Date:  1995       Impact factor: 3.017

8.  Zinc deficiency leads to lipofuscin accumulation in the retinal pigment epithelium of pigmented rats.

Authors:  Sylvie Julien; Antje Biesemeier; Despina Kokkinou; Oliver Eibl; Ulrich Schraermeyer
Journal:  PLoS One       Date:  2011-12-22       Impact factor: 3.240

9.  Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1.

Authors:  Romain Touzé; Marc M Abitbol; Dominique Bremond-Gignac; Matthieu P Robert
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-04-01       Impact factor: 4.799

  9 in total

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