Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism*

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Abstract

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.

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Most cited references 13

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Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.

C Moss, S M Taibjee, Mark Bennett (2004)

There is increasing evidence that hypomelanosis of Ito and related disorders such as linear and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal abnormalities. This group of disorders is better termed 'pigmentary mosaicism'. In this review we explain how disparate chromosomal abnormalities might manifest as a common pigmentary phenotype. In particular, we provide evidence supporting the hypothesis that the chromosomal abnormalities reported in these disorders specifically disrupt expression or function of pigmentary genes.

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Linear and whorled hypermelanosis.

Vito Di Lernia (2015)

Linear and whorled nevoid hypermelanosis is a sporadic pigmentary anomaly occurring within the first weeks of life, characterized clinically by swirls and streaks of macular hyperpigmentation following the lines of Blaschko. Histologically it shows only epidermal melanosis. Underlying chromosomal mosaicism has been demonstrated in only a few published cases. Progressive cribriform and zosteriform hyperpigmentation is considered to be the localized variant of linear and whorled nevoid hypermelanosis. We report a retrospective study on 16 children referred consecutively over a 10-year period for evaluation of segmental, linear or swirled hyperpigmentation distributed along the lines of Blashko, consistent with a diagnosis of linear and whorled nevoid hypermelanosis. Associated abnormalities were found only in one out of six patients with the diffuse form (linear and whorled nevoid hypermelanosis-type) and in none of the remaining 10 children presenting the unilateral form (progressive cribriform and zosteriform hyperpigmentation-type). A long-term follow-up did not disclose further abnormalities. The authors discuss the nosologic position of this entity with respect to hypomelanosis of Ito. Linear and whorled nevoid hypermelanosis and hypomelanosis of Ito should be not considered single entities, but be rather grouped as a heterogeneous collection of nonspecific pigmentary disorders caused by genetic mosaicism. Skin findings in these diseases can differ according to the pigmentation in the normal cell line and whether the second line contains more or less melanosomes than the normal skin of the individual exhibiting mosaicism.

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Atlas of genetic diagnosis and counseling

H Chen, HS Chen, HN Chen … (2006)

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Author and article information

Journal

Journal ID (nlm-ta): An Bras Dermatol

Journal ID (iso-abbrev): An Bras Dermatol

Journal ID (publisher-id): abd

Title: Anais Brasileiros de Dermatologia

Publisher: Sociedade Brasileira de Dermatologia

ISSN (Print): 0365-0596

ISSN (Electronic): 1806-4841

Publication date (Print and electronic): Nov-Dec 2016

Publication date (Print): Nov-Dec 2016

Volume: 91

Issue: 6

Pages: 837-839

Affiliations

[1 ] Coimbra University Hospital Centre (CHUC) – Coimbra, Portugal

Author notes

Mailing address: Miguel Pinto de Gouveia, Dermatology Department, Coimbra University Hospital Centre, Av. Bissaya Barreto, Praceta Prof. Mota Pinto, 3000-045 Coimbra, Portugal, E-mail: miguelpgouveia@ 123456gmail.com

Article

DOI: 10.1590/abd1806-4841.20164922

PMC ID: 5193204

SO-VID: cf999bad-37fb-4f5c-ba6f-a61d652b2db6

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.