Familial hypomelanosis of Ito: Implications for genetic counselling

Ruggieri, Martino

doi:10.1002/1096-8628(20001106)95:1<82::aid-ajmg17>3.0.co;2-l

Cited by 30 publications

(4 citation statements)

References 26 publications

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“…The claimed familial occurrence and the number of reported pedigrees inferring Mendelian inheritance in pigmentary mosaicism of the Ito type have not been proven at a clinical level. 20 It has been hypothesized that the pigmentary pattern that follows Blaschko's lines is the result of the migration of 2 different clones of cells during embryogenesis, and the clinical findings of pigmentary mosaicism (of the Ito type) is a nonspecific manifestation (ie, a phenotype) reflecting genetic mosaicism, which likely disrupts expression or function of pigmentary genes. 19,21 The pigmentary anomalies are the results of an interaction between 2 different cellular populations as it happens with the mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

et al. 2016

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Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended.

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Section: Discussionmentioning

confidence: 99%

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

et al. 2016

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“…The different terminology that the various authors use to identify and classify pigmentary disorders following the Blaschko lines is confusing however [Paller, 1996;Nehal et al, 1996;Ruggieri, 2000b]. Nehal et al [1996] suggested that pigmentary disorders following the Blaschko lines represent a collection of heterogeneous disorders with mosaicism as the common underlying factor.…”

Section: Introductionmentioning

confidence: 99%

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Niessen

Jonkman

Muis

et al. 2005

American J of Med Genetics Pt A

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We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,þ7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

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“…These clones migrate on two well defined and distinct ways, thus explaining the presentation of the hypopigmented spots along Blaschko's lines. [84][85][86]…”

Section: Hypomelanosis Of Ito/incontinetia Pigmenti Achromiam Of Ito/mentioning

confidence: 99%

Hereditary hypo/de-pigmented dermatoses: An overview

Sehgal¹,

Srivastava²

2008

Int J Dermatol

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Familial hypomelanosis of Ito: Implications for genetic counselling

Cited by 30 publications

References 26 publications

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Hereditary hypo/de-pigmented dermatoses: An overview

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