The distribution pattern of segmental vitiligo: clues for somatic mosaicism

Geel, Nanja van; Speeckaert, Reinhart; Melsens, Elodie; Toelle, Sandra P.; Speeckaert, Marijn M.; Schepper, Sofie De; Lambert, Jo; Brochez, Liève

doi:10.1111/bjd.12013

Cited by 39 publications

(35 citation statements)

References 19 publications

(28 reference statements)

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“…segmental lentiginosis and epidermal naevus verrucosus). 3,13,14 Furthermore, the distribution of V-shaped lesions on the upper part of the trunk resembled a combination of the type 1b and type 2 pattern of mosaicism described by Happle in Chuong et al 15 In this study we observed an earlier onset of SV on the left side of the trunk compared with the right. A clear explanation for this finding is absent and further research seems warranted to confirm this observation.…”

Section: Discussionsupporting

confidence: 71%

“…2 In previous observational studies by our group we were confronted with typical recurring patterns of SV lesions, not only on the face but also on the trunk. 3 These distribution patterns showed some resemblance to other diseases caused by somatic mosaicism, but could also display a rather unique phenotype. A classification of SV on the face has been proposed, 4,5 but to our knowledge no observational studies have evaluated the distribution characteristics of SV lesions specifically on the trunk.…”

Section: What Does This Study Add?mentioning

confidence: 82%

“…The recurring patterns observed in this study seem to be typical for SV as described previously by our group. 3 The most recognizable pattern is the 'V-shaped' pattern (subtype 3), which can be observed on the upper part of the trunk against the midline of the upper thorax. This remarkable cutaneous pattern has also been reported for mosaic disorders (e.g.…”

Section: Discussionmentioning

confidence: 99%

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Classification of segmental vitiligo on the trunk

et al. 2014

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Section: Discussionsupporting

confidence: 71%

Section: What Does This Study Add?mentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

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Classification of segmental vitiligo on the trunk

et al. 2014

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“…For example, segmental vitiligo is a subtype of vitiligo that presents with rapid development of unilateral lesions and subsequent clinical stability. Recent studies have suggested that segmental vitiligo may be secondary to a postzygotic, somatic mutation that leads to development of a vulnerable subpopulation of melanocytes[21]. It appears that this local vulnerability, combined with autoimmunity, results in depigmentation limited to one area of the body.…”

Section: Autoimmunity In Vitiligomentioning

confidence: 99%

Understanding autoimmunity of vitiligo and alopecia areata

Rork

Rashighi²,

Harris³

2016

Current Opinion in Pediatrics

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Purpose of review Vitiligo and alopecia areata are common, disfiguring skin diseases. Treatment options are limited and include non-targeted approaches such as corticosteroids, topical calcineurin inhibitors, narrow band UVB phototherapy, and other immune-modifying agents. The purpose of this article is to review shared, novel mechanisms between vitiligo and alopecia areata, as well as discuss how they inform the development of future targeted treatments. Recent findings Vitiligo and alopecia areata are both autoimmune diseases, and striking similarities in pathogenesis have been identified at the level of both the innate and adaptive immune system. Increased reactive oxygen species and high cellular stress level have been suggested as the initiating trigger of the innate immune system in both diseases, and genome-wide association studies have implicated risk alleles that influence both innate and adaptive immunity. Most importantly, mechanistic studies in mouse models of vitiligo and alopecia areata have specifically implicated an IFN-γ-driven immune response, including IFN-γ, IFN-γ-induced chemokines, and cytotoxic CD8+ T cells as the main drivers of disease pathogenesis. These recent discoveries may reveal an effective strategy to develop new treatments, and several proof-of-concept clinical studies support this hypothesis. Summary The identification of IFN-γ-driven immune signaling pathways has enabled discoveries of potential new treatments for vitiligo and alopecia areata, and supports initiation of larger clinical trials.

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“…More recently, it has been suggested that SV might follow Blashko's lines and could be considered as the possible expression of cutaneous mosaicism [10,11]. SV would be probably more informative in terms of skin causative genes because associated autoimmune disorders are rare in SV [12].…”

Section: Sv and Nsv As Separate Entitiesmentioning

confidence: 99%

New Insights in Mixed Vitiligo: Initial Non Segmental Vitiligo can precede the Onset of Segmental Vitiligo (Cases Report and Review of Theories)

Benzekri¹,

Gauthier²

2014

Pigmentary Disorders

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Recently, mixed vitiligo (MV) was defined by Mulekar as the association of segmental vitiligo (SV) and nonsegmental vitiligo (NSV) in the same patient. Until now, SV and generalized NSV were considered to be separate entities with a different distribution (unilateral or bilateral). Generalized vitiligo seemed to be more frequently associated with other autoimmune diseases than SV. From the pathophysiological standpoint, it was hypothesized that NSV was an autoimmune disease, while SV may result of a sympathetic dysfunction. The first pediatric case of SV associated with NSV was reported in 2003 and 36 other observations were subsequently reported. In all these cases, segmental involvement associated usually in a second step with the onset of bilateral vitiligo patches. In this article, we describe, for the first time, two atypical cases of mixed vitiligo in which NSV involvement preceded the onset of SV. In the light of these remarkable cases, different possible aetiopathogenetic mechanisms of MV are discussed which may provide new insights into the pathogenesis of vitiligo.

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The distribution pattern of segmental vitiligo: clues for somatic mosaicism

Cited by 39 publications

References 19 publications

Classification of segmental vitiligo on the trunk

Classification of segmental vitiligo on the trunk

Understanding autoimmunity of vitiligo and alopecia areata

New Insights in Mixed Vitiligo: Initial Non Segmental Vitiligo can precede the Onset of Segmental Vitiligo (Cases Report and Review of Theories)

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