Literature DB >> 25859498

Incontinentia pigmenti: a rare genodermatosis in a male child.

Dinesh Kumar Narayana Swamy1, Arulkumaran Arunagirinathan2, Revathi Krishnakumar3, Sivaraman Sangili3.   

Abstract

Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very few cases of male child with Incontinentia pigmenti have been reported. Thus, we report this case due to its extreme rarity and the child showed all the first 3 stages on followup.

Entities:  

Keywords:  Eosinophilia; Genes X-Linked; Melanins; Pigmentation

Year:  2015        PMID: 25859498      PMCID: PMC4378780          DOI: 10.7860/JCDR/2015/12171.5561

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

1.  [Not Available].

Authors:  K D LAHIRI
Journal:  Br J Dermatol       Date:  1955 Aug-Sep       Impact factor: 9.302

Review 2.  Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review.

Authors:  María de la Luz Arenas-Sordo; Bárbara Vallejo-Vega; Edgar Hernández-Zamora; Arturo Gálvez-Rosas; Luis Alberto Montoya-Pérez
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2005-07-01

3.  Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Authors:  S Kenwrick; H Woffendin; T Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; T Bardaro; T Esposito; M D'Urso; F Soli; A Turco; A Smahi; D Hamel-Teillac; S Lyonnet; J P Bonnefont; A Munnich; S Aradhya; C D Kashork; L G Shaffer; D L Nelson; M Levy; R A Lewis
Journal:  Am J Hum Genet       Date:  2001-10-22       Impact factor: 11.025

4.  Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

Authors:  S Aradhya; G Courtois; A Rajkovic; R A Lewis; M Levy; A Israël; D L Nelson
Journal:  Am J Hum Genet       Date:  2001-02-08       Impact factor: 11.025

5.  Clinical study of 40 cases of incontinentia pigmenti.

Authors:  Smaïl Hadj-Rabia; David Froidevaux; Nathalie Bodak; Dominique Hamel-Teillac; Asma Smahi; Yasmina Touil; Sylvie Fraitag; Yves de Prost; Christine Bodemer
Journal:  Arch Dermatol       Date:  2003-09

Review 6.  Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

Authors:  Alexander L Berlin; Amy S Paller; Lawrence S Chan
Journal:  J Am Acad Dermatol       Date:  2002-08       Impact factor: 11.527

7.  Incontinentia pigmenti: treatment of IP with topical tacrolimus.

Authors:  Chad J Jessup; Shane C Morgan; Lisa M Cohen; Daniel E Viders
Journal:  J Drugs Dermatol       Date:  2009-10       Impact factor: 2.114

8.  The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Authors:  A Smahi; C Hyden-Granskog; B Peterlin; P Vabres; S Heuertz; M C Fulchignoni-Lataud; N Dahl; P Labrune; B Le Marec; C Piussan
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150

  8 in total
  3 in total

Review 1.  Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.

Authors:  Alessandra Pescatore; Ezia Spinosa; Carmela Casale; Maria Brigida Lioi; Matilde Valeria Ursini; Francesca Fusco
Journal:  Int J Mol Sci       Date:  2022-01-21       Impact factor: 5.923

2.  Reticulated, Hyperchromic Rash in a Striated Pattern Mimicking Atopic Dermatitis and Fungal Infection in a 2-Month-Old Female: A Case of Incontinentia Pigmenti.

Authors:  Nina Poliak; Alexandre Le; Anthony Rainey
Journal:  Case Rep Pediatr       Date:  2016-04-19

3.  Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.

Authors:  Fahimeh Abdollahimajd; Minoo Fallahi; Mohammad Kazemian; Yalda Nilipour; Mitra Radfar; Sedigheh Tahereh Tehranchi
Journal:  Case Rep Pediatr       Date:  2018-06-13
  3 in total

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