Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis

Sorlin, Arthur; Maruani, Annabel; Aubriot-Lorton, Marie-Hélène; Kuentz, Paul; Duffourd, Yannis; Teysseire, S.; Carmignac, Virginie; St‐Onge, Judith; Chevarin, Martin; Jouan, Thibaud; Thauvin‐Robinet, Christel; Thévenon, Julien; Faivre, Laurence; Rivière, Jean‐Baptiste; Vabres, P.

doi:10.1016/j.jid.2017.01.035

Cited by 23 publications

(23 citation statements)

References 16 publications

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“…The absence of known melanocytic disorders in a fine and whorled Blaschko linear suggests that this pattern of pigmentation is non‐cell‐autonomous, the result of mosaicism or chimaerism affecting keratinocytes (either at DNA or RNA level), leading to a pigmentary phenotype. This would be in line with the basis for the brindle pattern in dogs, proposed to be dictated at the level of keratinocytes not melanocytes (Kerns et al., ), and with recent evidence from a mosaic KITLG mutation in one patient (Sorlin et al, ). This will be testable by single‐cell analysis in patients with this phenotype and in whom the causative mosaic or chimaeric mutation has been established.…”

Section: Discussionsupporting

confidence: 83%

“…This would be in line with the basis for the brindle pattern in dogs, proposed to be dictated at the level of keratinocytes not melanocytes (Kerns et al, 2007), and with recent evidence from a mosaic KITLG mutation in one patient (Sorlin et al, 2017). This will be testable by single-cell analysis in patients with this phenotype and in whom the causative mosaic or chimaeric mutation has been established.…”

Section: Discussionsupporting

confidence: 69%

“…Where it was not possible to obtain consent for publication of specific features, references have been given which demonstrate these features in photographs. We propose that one of these patterns is melanocyte non-autonomous, corresponding to fine and whorled Blaschko's lines (Blaschko, 1901;Happle, Fuhrmann-Rieger, & Fuhrmann, 1984;Sorlin et al, 2017), and two are melanocyte cell-autonomous. These two are here termed segmental and non-segmental, in an attempt to link them to existing terminology, although their characteristics are redefined here.…”

Section: Resultsmentioning

confidence: 97%

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The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation

Kinsler

Larue

2017

Pigment Cell Melanoma Res

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SummarySystematic work in the mouse and chicken has mapped out two neural crest‐derived pathways of melanocyte precursor migration. With these in mind, this study reappraises the patterns of congenital pigmentary disorders in humans and identifies three recurrent patterns consistent across genetically different diseases. Only two of these are seen in diseases known to be melanocyte cell‐autonomous. The segmental pattern correlates well with the classical dorsolateral population from animal studies, demonstrating respect of the midline, cranio‐caudal axial mixing, unilateral migration and involvement of key epidermally derived structures. Importantly however, the melanocyte precursors responsible for the non‐segmental pattern, which demonstrates circular, bilateral migration centred on the midline, and not involving key epidermally derived structures, have not been identified previously. We propose that this population originates around the time of gastrulation, most likely within the mesoderm, and ultimately resides within the dermis. Whether it contributes to mature melanocytes in non‐disease states is not known; however, parallels with the patterns of acquired vitiligo would suggest that it does. The third pattern, hypo‐ or hyperpigmented fine and whorled Blaschko's lines, is proposed to be non‐cell‐autonomous.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionsupporting

confidence: 69%

Section: Resultsmentioning

confidence: 97%

See 1 more Smart Citation

The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation

Kinsler

Larue

2017

Pigment Cell Melanoma Res

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“…1,2,5,11 A postzygotic mutation in KITLG gene was also identified. 8 The latter is associated with increased KITLG and c-KIT epidermal expression. 8 LWNH may be associated with extracutaneous abnormalities including central nervous system diseases, cardiac defects, psychomotor delay, deafness, brachydactyly and hydrocephalus.…”

Section: Discussionmentioning

confidence: 99%

“…8 The latter is associated with increased KITLG and c-KIT epidermal expression. 8 LWNH may be associated with extracutaneous abnormalities including central nervous system diseases, cardiac defects, psychomotor delay, deafness, brachydactyly and hydrocephalus. 2 The true incidence of such associated systemic features is unknown but some studies have reported a rate between 16% and 31%.…”

Section: Discussionmentioning

confidence: 99%

Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review

Fernandes

Waddell

Jean

2019

SAGE Open Medical Case Reports

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This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome. Linear and whorled nevoid hypermelanosis is a rare disorder of skin pigmentation characterized by swirls and whorls of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Neurologic, cardiac, skeletal and developmental anomalies have been reported. We present a case of linear and whorled nevoid hypermelanosis on an 18-year-old woman who also presented with cerebellar atrophy, jerk nystagmus, macrocephaly and developmental delay. Those symptoms were compatible with Joubert syndrome. A complete work-up failed to reveal other systemic or skeletal anomalies. No chromosomal alteration was found on karyotyping carried out on a skin specimen. Much remains to be known about linear and whorled nevoid hypermelanosis. It is generally a benign condition but association with various congenital anomalies have been reported. Proper work-up is advised in order to exclude congenital anomalies.

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Mosaic Disorders of Pigmentation

Kinsler

2019

Harper's Textbook of Pediatric Dermatology

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Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis

Cited by 23 publications

References 16 publications

The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation

The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation

Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review

Mosaic Disorders of Pigmentation

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