Literature DB >> 9279762

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

R Happle1, G Barbi, D Eckert, I Kennerknecht.   

Abstract

An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital 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.

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Year:  1997        PMID: 9279762      PMCID: PMC1051032          DOI: 10.1136/jmg.34.8.676

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  11 in total

Review 1.  Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome.

Authors:  R Happle; R Hoffmann; L Restano; R Caputo; G Tadini
Journal:  Am J Med Genet       Date:  1996-11-11

2.  Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Authors:  C G Woods; A Bankier; J Curry; L J Sheffield; S F Slaney; K Smith; L Voullaire; D Wellesley
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 3.  Mosaicism in human skin. Understanding the patterns and mechanisms.

Authors:  R Happle
Journal:  Arch Dermatol       Date:  1993-11

4.  Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases.

Authors:  H Ohashi; M Tsukahara; I Murano; K Naritomi; K Nishioka; S Miyake; T Kajii
Journal:  Am J Med Genet       Date:  1992-07-01

5.  Somatic mutation and recombination test in Drosophila melanogaster.

Authors:  U Graf; F E Würgler; A J Katz; H Frei; H Juon; C B Hall; P G Kale
Journal:  Environ Mutagen       Date:  1984

Review 6.  Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

Authors:  I T Thomas; J L Frias; E S Cantu; C Z Lafer; D B Flannery; J G Graham
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

7.  Bloom syndrome: a mendelian prototype of somatic mutational disease.

Authors:  J German
Journal:  Medicine (Baltimore)       Date:  1993-11       Impact factor: 1.889

8.  Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

Authors:  D Donnai; A P Read; C McKeown; T Andrews
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

9.  Incontinentia pigmenti achromians (Ito).

Authors:  H Takematsu; S Sato; M Igarashi; M Seiji
Journal:  Arch Dermatol       Date:  1983-05

10.  Hypothesis: vascular twin naevi and somatic recombination in man.

Authors:  R Happle; R Koopman; P D Mier
Journal:  Lancet       Date:  1990-02-17       Impact factor: 79.321

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  3 in total

1.  Cutis tricolor: a literature review and report of five new cases.

Authors:  Martino Ruggieri; Agata Polizzi; Carmelo Schepis; Massimiliano Morano; Serena Strano; Giuseppe Belfiore; Stefano Palmucci; Pietro Valerio Foti; Concetta Pirrone; Mario Roggini; Emanule David; Vincenzo Salpietro; Pietro Milone
Journal:  Quant Imaging Med Surg       Date:  2016-10

2.  Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?

Authors:  Ingo Helbig; Regina Fölster-Holst; Jochen Brasch; Ingrid Hausser; Andreas van Baalen; Hiltrud Muhle; Karsten Alfke; Almuth Caliebe; Ulrich Stephani; Rudolf Happle
Journal:  Eur J Pediatr       Date:  2009-08-26       Impact factor: 3.183

Review 3.  Pigmentary mosaicism: a review of original literature and recommendations for future handling.

Authors:  Anna Boye Kromann; Lilian Bomme Ousager; Inas Kamal Mohammad Ali; Nurcan Aydemir; Anette Bygum
Journal:  Orphanet J Rare Dis       Date:  2018-03-05       Impact factor: 4.123

  3 in total

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