Hypomelanosis of Ito with triphalangeal thumbs.

Kukolich, Mary K.; Althaus, Becky W.; Freeman, Mahlon V. R.; Lewandowski, Raymond

doi:10.1136/jmg.17.2.151

Cited by 16 publications

(8 citation statements)

References 2 publications

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“…Low TFRC, distal axial triradius, absence of C line, high number of secondary creases and simian crease were not observed in our patients, although previously reported in literature (Kukolich et al, 1980;Vormittag et al, 1992).…”

Section: Discussioncontrasting

confidence: 54%

“…The absence of d triradius, previously found in one other such case (Kukolich et al, 1980), is a dermatoglyphic anomaly which may be present in the normal population with a very low frequence, between 0.06% and 2.6% (table 3). However, it may become higher in some congenital heart-diseases and in XXXXY syndrome (David, 1978).…”

Section: Discussionmentioning

confidence: 66%

“…1: described inKukolich et al, 1980; 2, 3: described in Vormittag et al, 1992; 4: described in the present paper. R: right; L: left.…”

mentioning

confidence: 75%

“…A few authors have investigated the dermatoglyphic aspects of three patients with this disorder (Kukolich et al 1980;Vormittag et al, 1992).…”

Section: Introductionmentioning

confidence: 99%

“…HYPOMELANOSIS OF ITO: dermatoglyphic characteristics as described inKukolich et al (1980) and Vormittag et al (1992).…”

mentioning

confidence: 99%

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Dermatoglyphic peculiarities in patients with hypomelanosis of Ito (Incontinentia pigmenti achromians). A new case

et al. 2005

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Section: Discussioncontrasting

confidence: 54%

Section: Discussionmentioning

confidence: 66%

“…1: described inKukolich et al, 1980; 2, 3: described in Vormittag et al, 1992; 4: described in the present paper. R: right; L: left.…”

mentioning

confidence: 75%

“…A few authors have investigated the dermatoglyphic aspects of three patients with this disorder (Kukolich et al 1980;Vormittag et al, 1992).…”

Section: Introductionmentioning

confidence: 99%

“…HYPOMELANOSIS OF ITO: dermatoglyphic characteristics as described inKukolich et al (1980) and Vormittag et al (1992).…”

mentioning

confidence: 99%

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Dermatoglyphic peculiarities in patients with hypomelanosis of Ito (Incontinentia pigmenti achromians). A new case

et al. 2005

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Chromosome mosaicism in hypomelanosis of Ito

et al. 1990

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Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

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A catalogue of multiple congenital anomaly syndromes

Winter

Baraitser

1991

Multiple Congenital Anomalies

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Hypomelanosis of Ito with triphalangeal thumbs.

Cited by 16 publications

References 2 publications

Dermatoglyphic peculiarities in patients with hypomelanosis of Ito (Incontinentia pigmenti achromians). A new case

Dermatoglyphic peculiarities in patients with hypomelanosis of Ito (Incontinentia pigmenti achromians). A new case

Chromosome mosaicism in hypomelanosis of Ito

A catalogue of multiple congenital anomaly syndromes

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