EC Paediatrics

Case Report Volume 11 Issue 8 - 2022

Incontinentia Pigmenti in Infant Girl, a Genetic Condition - A Rare Case

Vikram Singh Katodia1*, Yasmin Sarao2, Diljot Singh Bedi3, Kanwar Shabaz Singh Sandhu4, Harnoor Singh Sandhu5 and Avineet Kaur6

1Department of Paediatrics and Neonatology, Consultant Pediatrician and Neonatologist, PCMS-1, Civil Hospital Mansa, Punjab, India

2Medical Officer, Philadelphia Hospital Ambala City, Haryana, India

3Senior Consultant, Department of Paediatrics and Neonatology, Fortis Hospital Mohali, Punjab, India

4PG Student, Department of Paediatrics, Narayan Medical College and Hospital Sasaram Jamuhar, Bihar, India

5Emergency Medical Officer, Department of Emergency, Gian Sagar Medical Hospital Banur, Rajpura, Punjab, India

6Associate Professor, Department of Periodontology and Oral Implantology, Swami Devi Dyal Dental College and Hospital Golpura, Barwala, Haryana, India

*Corresponding Author: Vikram Singh Katodia, Department of Paediatrics and Neonatology, Consultant Pediatrician and Neonatologist, PCMS-1, Civil Hospital Mansa, Punjab, India.
Received: June 14, 2022; Published: July 14, 2022



Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. IP results from a mutation within the IKBKG gene (formerly known as NEMO or nuclear factor kappa essential modulator). Typical phenotype results from the physiological mechanism of random inactivation of one of the X chromosomes.

Keywords:  Incontinentia Pigmenti; Mutation; IKBKG Gene; NEMO

  1. Yadlapati S and Tripathy K. Incontinentia Pigmenti (Bloch Sulzberger Syndrome) (2022).
  2. Bodemer C., et al. “Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti”. Journal of the European Academy of Dermatology and Venereology7 (2020): 1415-1424.
  3. Cammarata-Scalisi F., et al. “Incontinentia Pigmenti”. Actas Dermo-Sifiliográficas4 (2019): 273-278.
  4. Gurevitch AW., et al. “Incontinentia Pigmenti”. Clinical Pediatrics7 (1973): 396-301.
  5. Batson R., et al. “Incontinentia Pigmenti”. The Journal of Pediatrics 176 (2016): 218.
  6. Gordon H and Gordon W. “Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases”. Dermatology3 (1970): 150-168.
  7. Vinay K., et al. “Dermatoscopic features of incontinentia pigmenti”. Indian Journal of Dermatology, Venereology and Leprology 4 (2020): 422.
  8. Poziomczyk CS., et al. “Incontinentia Pigmenti”. Anais Brasileiros De Dermatologia 1 (2014): 26-36.
  9. Fatima N., et al. “Bloch Sulzberger Syndrome (Incontinentia pigmenti): A Rare Case Report with Dental Defects”. Journal of Indian Society of Pedodontics and Preventive Dentistry 1 (2015): 74.
  10. Rafatjoo R and Taghdisi Kashani A. “Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl”. Journal of Dentistry, Shiraz University of Medical Sciences3 (2016): 233-237.
  11. Mayer EJ. “Novel Corneal Features in Two Males with Incontinentia Pigmenti”. British Journal of Ophthalmology 5 (2003): 554-556.
  12. Gupta K., et al. “Case Reports of Incontinentia Pigmenti in Males”. Indian Journal of Dermatology 4 (2013): 328.
  13. Hadj-Rabia S., et al. “Clinical Study of 40 Cases of Incontinentia Pigmenti”. Archives of Dermatological9 (2003): 1163-1170.
  14. Pizzamiglio MR., et al. “Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease”. PLoS ONE 1 (2014).

Vikram Singh Katodia., et al. Incontinentia Pigmenti in Infant Girl, a Genetic Condition - A Rare Case. EC Paediatrics  11.8 (2022): 01-06.

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