Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Küster, Wolfgang; König, Arne

doi:10.1002/(sici)1096-8628(19990806)85:4<346::aid-ajmg7>3.0.co;2-1

Cited by 94 publications

(74 citation statements)

References 47 publications

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“…This supports the notion that characteristic linear and whirled pigmentary patterns are an aspecific manifestation of mosaicism or chimerism [Flannery, 1990;Ohashi et al, 1992;Happle, 1993Happle, , 1998Kü ster and König, 1999]. This raises the question why so many different genetic abnormalities cause similar patterns of mosaic skin pigmentation.…”

Section: Discussionsupporting

confidence: 78%

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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Section: Discussionsupporting

confidence: 78%

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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“…2 In accordance with this concept, cytogenetic examination has shown various states of mosaicism in patients affected with so-called hypomelanosis of Ito, a cutaneous pattern that almost exclusively occurs sporadically.3 6 We report here an unusual case with multisystem birth defects showing circumscribed areas of hyperpigmentation and hypopigmentation, and we suggest a common origin of the two skin lesions by the mechanism of allelic twin spotting.…”

mentioning

confidence: 60%

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

Happle

Barbi²,

Eckert³

et al. 1997

Journal of Medical Genetics

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An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 year old patient with various other congenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper-and hypopigmented cutaneous lesions is an example of allelic twin spotting. Because the skin of this patient showed three different degrees of pigmentation, the term "cutis tricolor" is proposed. (7Med Genet 1997;34:676-678 On examination at the age of 17 years his height was 145 cm (18 cm below the 3rd centile), his weight was 42.4 kg (5 kg below the 3rd centile), and head circumference 52 cm (1.5 cm below the 3rd centile). He had bushy eyebrows, deep set and backward rotated ears, broad nostrils, and prognathism (figs 1 and 2). A pronounced kyphoscoliosis resulting in chest deformity was present (fig 2). His hearing appeared to be normal and his muscle tone and joint mobility were also normal. An EEG showed polyspike-wave complexes. A ventricular septal defect had been closed surgically at the age of 9 years. On ultrasonographic examination, thoracic and abdominal organs were otherwise normal. The testes were not palpable and a CT scan failed to show them within the abdomen. However, an HCG test indicated the presence of functionally active testicular tissue.On examination of the skin, a peculiar pigmentary disturbance was noted. On the right side of his body multiple segmented areas of cafe au lait hyperpigmentation involved the mandibular area and the arm. In addition, ipsilateral, well demarcated areas of hypopigmentation were present on the neck and the shoulder, in close proximity to the hyperpigmented lesions (fig 3).

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“…The skin patterns may appear as an isolated skin disorder (a pure cutaneous trait) ( pigmentary mosaicism or linear hypomelanosis [ of the Ito type ]) 2–4,7 or as a complex malformation syndrome in association with extracutaneous manifestations, 5,6,8 including central nervous system or musculoskeletal alterations ( hypomelanosis of Ito [HI]). 5,6,8,11–16 More rarely, the eyes, heart, and genital organs can also be involved.…”

Section: Introductionmentioning

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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Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Cited by 94 publications

References 47 publications

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

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

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

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

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