Time filter

Source Type

Ezzedine K.,National Center for Rare Skin Disorders | Ezzedine K.,Ghent University | Eleftheriadou V.,Institut Universitaire de France | Whitton M.,Institut Universitaire de France | Van Geel N.,University of Nottingham
The Lancet | Year: 2015

Vitiligo, an acquired pigmentary disorder of unknown origin, is the most frequent cause of depigmentation worldwide, with an estimated prevalence of 1%. The disorder can be psychologically devastating and stigmatising, especially in dark skinned individuals. Vitiligo is clinically characterised by the development of white macules due to the loss of functioning melanocytes in the skin or hair, or both. Two forms of the disease are well recognised: segmental and non-segmental vitiligo (the commonest form). To distinguish between these two forms is of prime importance because therapeutic options and prognosis are quite different. The importance of early treatment and understanding of the profound psychosocial effect of vitiligo will be emphasised throughout this Seminar. © 2015 Elsevier Ltd. Source

Eytan O.,Tel Aviv Sourasky Medical Center | Eytan O.,Tel Aviv University | Morice-Picard F.,National Center for Rare Skin Disorders | Morice-Picard F.,Institut Universitaire de France | And 17 more authors.
American Journal of Human Genetics | Year: 2013

The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct sequencing, we showed complete cosegregation of the disease phenotype with three heterozygous ENPP1 mutations in three unrelated families. All mutations were found to affect cysteine residues in the somatomedin-B-like 2 (SMB2) domain in the encoded protein, which has been implicated in insulin signaling. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which is responsible for the generation of inorganic pyrophosphate, a natural inhibitor of mineralization. Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases. © 2013 The American Society of Human Genetics. All rights reserved. Source

Ezzedine K.,National Center for Rare Skin Disorders | Ezzedine K.,University of Bordeaux 1 | Lim H.W.,Ford Motor Company | Suzuki T.,Yamagata University | And 19 more authors.
Pigment Cell and Melanoma Research | Year: 2012

During the 2011 International Pigment Cell Conference (IPCC), the Vitiligo European Taskforce (VETF) convened a consensus conference on issues of global importance for vitiligo clinical research. As suggested by an international panel of experts, the conference focused on four topics: classification and nomenclature; definition of stable disease; definition of Koebner's phenomenon (KP); and 'autoimmune vitiligo'. These topics were discussed in seven working groups representing different geographical regions. A consensus emerged that segmental vitiligo be classified separately from all other forms of vitiligo and that the term 'vitiligo' be used as an umbrella term for all non-segmental forms of vitiligo, including 'mixed vitiligo' in which segmental and non-segmental vitiligo are combined and which is considered a subgroup of vitiligo. Further, the conference recommends that disease stability be best assessed based on the stability of individual lesions rather than the overall stability of the disease as the latter is difficult to define precisely and reliably. The conference also endorsed the classification of KP for vitiligo as proposed by the VETF (history based, clinical observation based, or experimentally induced). Lastly, the conference agreed that 'autoimmune vitiligo' should not be used as a separate classification as published evidence indicates that the pathophysiology of all forms of vitiligo likely involves autoimmune or inflammatory mechanisms. © 2012 John Wiley & Sons A/S. Source

Dutkiewicz A.-S.,Pellegrin Childrens Hospital Place | Dutkiewicz A.-S.,University of Bordeaux Segalen | Ezzedine K.,Pellegrin Childrens Hospital Place | Ezzedine K.,University of Bordeaux Segalen | And 13 more authors.
Journal of the American Academy of Dermatology | Year: 2015

Background Upper facial port-wine stain (PWS) is a feature of Sturge-Weber syndrome (SWS). Recent studies suggest that the distribution of the PWS corresponds to genetic mosaicism rather than to trigeminal nerve impairment. Objectives We sought to refine the cutaneous distribution of upper facial PWS at risk for SWS. Methods This was a prospective multicenter study of consecutive cases of upper facial PWS larger than 1 cm2 located in the ophthalmic division of trigeminal nerve distribution in infants aged less than 1 year, seen in 8 French pediatric dermatology departments between 2006 and 2012. Clinical data, magnetic resonance imaging, and photographs were systematically collected and studied. PWS were classified into 6 distinct patterns. Results In all, 66 patients were included. Eleven presented with SWS (magnetic resonance imaging signs and seizure). Four additional infants had suspected SWS without neurologic manifestations. Hemifacial (odds ratio 7.7, P =.003) and median (odds ratio 17.08, P =.008) PWS patterns were found to be at high risk for SWS. A nonmedian linear pattern was not associated with SWS. Limitations Small number of patients translated to limited power of the study. Conclusions Specific PWS distribution patterns are associated with an increased risk of SWS. These PWS patterns conform to areas of somatic mosaicism. Terminology stipulating ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned. © 2014 American Academy of Dermatology, Inc. Source

Bertolotti A.,National Center for Rare Skin Disorders | Boniface K.,University of Bordeaux Segalen | Vergier B.,Haut Leveque Hospitals | Mossalayi D.,University of Bordeaux Segalen | And 6 more authors.
Pigment Cell and Melanoma Research | Year: 2014

Immune-mediated responses are consistently observed in progressing vitiligo at the edge of depigmenting patches. Besides the role of the adaptive immune system, the profile of the innate immune response is now at the center of the stage. We report that plasmacytoid dendritic cells (pDC), which are the major interferon (IFN)-alpha-producing cells, are part of the infiltrate of progressive vitiligo with local production of MxA (a protein induced by IFNα). MxA was associated with expression of the type I IFN-inducible ligand CXCL9 and correlated with the recruitment of CXCR3+ immune cells. Interestingly, strong MxA expression was observed in perilesional skin in close apposition to remaining melanocytes, surrounded by a prominent T-cell infiltrate. In contrast, MxA was not detectable in lesional skin, suggesting that IFN-α production is an early event in the progression of the disease. Our data highlight a new innate immune pathway leading to progression of vitiligo. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Source

Discover hidden collaborations