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

Gouveia, Miguel; Coutinho, Inês; Teixeira, Vera; d'Oliveira, Renata; Venâncio, Margarida; Moreno, Alberto Díaz

doi:10.1590/abd1806-4841.20164922

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…No ultrasonographic fetal abnormalities were found in this case at serial scans between 12 and 20 weeks, when the patient chose pregnancy termination procedure after genetic counseling mentioned a reported case with dyspigmentation along the Blaschko lines, hypertrichosis, musculoskeletal, and minor neurodevelopment abnormalities caused by trisomy 7 mosaicism. 9 Uniparental disomy of whole chromosome 2 was identified by microarray analysis in 1 case (case 20, Table 1) with extra copy chromosome 2 (z score: 27.303) at NIPT (Figure 2A…”

Section: Resultsmentioning

confidence: 99%

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Wan

Zhang

et al. 2018

Prenatal Diagnosis

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Section: Resultsmentioning

confidence: 99%

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Wan

Zhang

et al. 2018

Prenatal Diagnosis

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“…[4] Several case reports with genetic analysis have documented this to be the cause, most of them reporting trisomies of several different chromosomes. [5,6,7] These groups of diseases, termed as Blaschkoid dyspigmentation [8] include Linear and Whorled Nevoid Hypermelanosis (LWNH), incontinentia pigmenti, linear epidermal nevus, hypomelanosis of Ito and Goltz syndrome etc.…”

Section: Discussion Of Managementmentioning

confidence: 99%

Linear and Whorled Nevoid Hypermelanosis With Delayed Milestones

Khan¹,

Dagar²

2018

jemds

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A 6-months-old female presented with progressively increasing diffuse dark-coloured lesions over the trunk and extremities with delayed milestones. According to the mother, the lesions started appearing after first week of life. Physical examination revealed streaks and whorls of hyperpigmented macules along the lines of Blaschko, located on the trunk and limbs [Figure 1]. The mother gave negative history of any preceding inflammation and positive history of two episodes of seizures in the first month of life, for which no cause was identified. Systemic examination showed no significant anomaly. The girl is the second child with a fiveyear-old unaffected sister. She has no similar case in her family. Haematological and biochemical investigations were within normal limits. Skin biopsy revealed increased melanin content in the basal layer with increased number of melanocytes. Basal cell degeneration and pigmentary incontinence in the dermis was not observed.

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Pigmentary mosaicism: a review of original literature and recommendations for future handling

Kromann¹,

Ousager²,

Ali³

et al. 2018

Orphanet J Rare Dis

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BackgroundPigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients.ResultsForty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality. In patients with extracutaneous manifestations, 43% of the cytogenetically tested patients exhibited an abnormal karyotype. In patients without extracutaneous manifestations, 32% of the cytogenetically tested patients exhibited an abnormal karyotype.ConclusionWe recommend a uniform parlance when describing the clinical picture of pigmentary mosaicism. Based on the results found in this review, we recommend that patients with pigmentary mosaicism undergo physical examination, highlighting with Wood’s light, and karyotyping from peripheral blood lymphocytes and skin fibroblasts. It is important that both patients with and without extracutaneous manifestations are tested cytogenetically, as the frequency of abnormal karyotype in the two groups seems comparable. According to the results only a minor part of patients, especially those without extracutaneous manifestations, are tested today reflecting a need for change in clinical practice.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0778-6) contains supplementary material, which is available to authorized users.

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

Cited by 3 publications

References 6 publications

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Linear and Whorled Nevoid Hypermelanosis With Delayed Milestones

Pigmentary mosaicism: a review of original literature and recommendations for future handling

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