Concomitant Incontinentia pigmenti and antiphospholipid antibody syndrome leading to diagnostic dilemma in a case of bad obstetric history: First report of the association

Authors

  • D P Singh Dept of Obst & Gynae, MH, Bagdogra India
  • Brijesh C Nair Classified Specialist Dept of Dermatology INHS, Danjivini
  • K G Prasad Dept of Surgery INHS, kalyani
  • Madhusudan Dey Dept Of OBGY Assoc Prof AFMC, Pune

DOI:

https://doi.org/10.7439/ijbar.v8i10.4425

Abstract

Antiphospholipid Antibody syndrome (APS) is an autoimmune disease characterized by recurrent thrombotic events, pregnancy morbidity, and persistence of Antiphospholipid antibodies (APLA). Incontinentia pigmenti is a rare X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females. Herein we present a case of a cutaneously asymptomatic lady with bad obstetric history who was detected to have APLA syndrome during Antenatal Care, with a dermatological referral to the dermatologist of her offspring leading to detection of Incontinentia pigmenti in the otherwise healthy offspring. We present this case to highlight the diagnostic difficulties in the coexistence of these two conditions in the same patient, particularly when the autosomal dominant gene is not expressed in females.

Downloads

Download data is not yet available.

References

Myones BL, McCurdy D. The antiphospholipid syndrome: Immunological and clinical aspects. J Rheumatol 2000; 58: 20-28.

Mialdea M, Sangle SR, D

Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002; 47: 169-87.

Bell S, Degitz K, Quirling M, Jilg N, Page S, Brand K. Involvement of NF-Kappa B signaling in skin physiology and disease. Cell Signal 2003;15:1-7.

Smahi A, Courtois G, Vabres P etal. Genomic rearrangement in NEMO impairs NFKB activation and is a cause of incontinentia pigmenti.: the international incontinentia pigmenti (IP) consortium. Nature 2000; 405: 466-72.

Gurevitch AW, Farrell W, Horlick S, Hirose F, Reisner RM. Incontinentia pigmenti

Carney RG Jr. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976;112:535-42.

Devridient K, Matthijs G, Fryns JP, Ballegeer V. Second trimester miscarriage of a male fetus with Incontinentia pigmenti. Am J Med Genet 1998;80: 298-9.

Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985; 70: 200-6.

Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). Acta Pediatr Suppl 2006; 95: 16-23.

Hadj-Rabia S, Rimella A, Smahi A, Fraitag S, et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor

Harris EN, Chan JK, Asherson RA, et al. thrombosis, recurrent fatal loss and thrombocytopenia. Predictive value of the anticardiolipin antibody test. Arch Intern Med 1986; 146:2153-6.

Antiphospholipid Syndrome. ACOG Practice Bulletin No 68. Ametican College of Obstetricians and Gynecologists. Obstet Gynecol 2005; 106: 1113-21.

Downloads

Published

2017-10-30

Issue

Section

Case Report

How to Cite

Concomitant Incontinentia pigmenti and antiphospholipid antibody syndrome leading to diagnostic dilemma in a case of bad obstetric history: First report of the association. (2017). International Journal of Biomedical and Advance Research, 8(10), 393-396. https://doi.org/10.7439/ijbar.v8i10.4425