Literature DB >> 25012887

Ichthyosis with confetti: a rare diagnosis and treatment plan.

Myra C Long1.   

Abstract

Congenital ichthyosis includes a group of rare skin disorders known for tiles of hyperkeratotic skin resembling fish scales. With age, the hyperkeratosis generally becomes more concentrated around joints which increases impairment. Ichthyosis with confetti, also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma, is an extremely rare form of ichthyosis. It usually begins as non-bullous congenital ichthyosiform erythroderma with the expected scaling. However, with time patients develop widespread 'confetti-like' patches of healthy skin. The healthy skin reflects clonal expansion of 'normal' or reverted cells. Cell reversion has potential for future therapies using revertant stem cells. Controlling symptoms with emollients is the goal of treatment for ichthyosis since it has no cure. 2014 BMJ Publishing Group Ltd.

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Year:  2014        PMID: 25012887      PMCID: PMC4112313          DOI: 10.1136/bcr-2014-204509

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  18 in total

Review 1.  A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.

Authors:  Angela Hernández-Martin; Beatriz Aranegui; Ana Martin-Santiago; Ignacio Garcia-Doval
Journal:  J Am Acad Dermatol       Date:  2013-07-16       Impact factor: 11.527

Review 2.  Ichthyoses: differential diagnosis and molecular genetics.

Authors:  Vinzenz Oji; Heiko Traupe
Journal:  Eur J Dermatol       Date:  2006 Jul-Aug       Impact factor: 3.328

3.  Ichthyotic skin disorders in the neonate.

Authors:  Lauren Rimoin; John M Graham
Journal:  Clin Pediatr (Phila)       Date:  2012-04-22       Impact factor: 1.168

4.  Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal:  Science       Date:  2010-08-26       Impact factor: 47.728

5.  Harlequin ichthyosis in an African child: case report.

Authors:  A N Migowa; C W Murungi; B W Gatinu; J Mbithe; E Kimani; P Okiro; F S Rana; R Ochieng; R Nduati
Journal:  East Afr Med J       Date:  2010-09

Review 6.  Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Authors:  Masashi Akiyama
Journal:  J Dermatol Sci       Date:  2006-02-14       Impact factor: 4.563

Review 7.  Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature.

Authors:  Aleksandar L Krunic; Dimitry Palcesky; Shail Busbey; Maria Medenica
Journal:  Acta Derm Venereol       Date:  2003       Impact factor: 4.437

Review 8.  Ichthyoses - Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options.

Authors:  Markus Krug; Vinzenz Oji; Heiko Traupe; Mark Berneburg
Journal:  J Dtsch Dermatol Ges       Date:  2009-06       Impact factor: 5.584

Review 9.  Ichthyoses--Part 2: Congenital ichthyoses.

Authors:  Markus Krug; Vinzenz Oji; Heiko Traupe; Mark Berneburg
Journal:  J Dtsch Dermatol Ges       Date:  2009-07       Impact factor: 5.584

Review 10.  Updated molecular genetics and pathogenesis of ichthiyoses.

Authors:  Masashi Akiyama
Journal:  Nagoya J Med Sci       Date:  2011-08       Impact factor: 1.131

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  4 in total

Review 1.  Epidermolytic hyperkeratosis: clinical update.

Authors:  Denice Peter Rout; Anushka Nair; Anand Gupta; Piyush Kumar
Journal:  Clin Cosmet Investig Dermatol       Date:  2019-05-08

2.  Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Authors:  Patricia Renz; Elias Imahorn; Iris Spoerri; Magomet Aushev; Oliver P March; Hedwig Wariwoda; Sarah Von Arb; Andreas Volz; Peter H Itin; Julia Reichelt; Bettina Burger
Journal:  J Cell Mol Med       Date:  2019-10-22       Impact factor: 5.310

Review 3.  Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Authors:  E Cuperus; A Bygum; L Boeckmann; C Bodemer; M C Bolling; M Caproni; A Diociaiuti; S Emmert; J Fischer; A Gostynski; S Guez; M E van Gijn; K Hannulla-Jouppi; C Has; A Hernández-Martín; A E Martinez; J Mazereeuw-Hautier; M Medvecz; I Neri; V Sigurdsson; K Suessmuth; H Traupe; V Oji; S G M A Pasmans
Journal:  J Eur Acad Dermatol Venereol       Date:  2022-03-15       Impact factor: 9.228

Review 4.  Ichthyosis with confetti: clinics, molecular genetics and management.

Authors:  Liliana Guerra; Andrea Diociaiuti; May El Hachem; Daniele Castiglia; Giovanna Zambruno
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123

  4 in total

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