Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
권호 표지
DOI QR코드

DOI QR Code

Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection

  • Park, Sang Ho (Department of Pediatrics, Presbyterian Medical Center) ;
  • Nam, Kyung-Hwa (Department of Dermatology, Presbyterian Medical Center) ;
  • Ho, Yo Han (Department of Pediatrics, Presbyterian Medical Center)
  • Received : 2020.05.06
  • Accepted : 2020.06.22
  • Published : 2020.08.31
Download PDF
⟨ Previous Next ⟩

Abstract

Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder that is generally lethal to males and almost always leads to death in utero. This disorder is a genodermatosis with characteristic cutaneous lesions and manifestations affecting the eyes, teeth, hair, and central nervous system. Genodermatosis is a hereditary disease caused by mutations in the nuclear factor-kappa B essential modulator gene mapped to chromosome Xq28. This gene encodes a variety of cytokines and chemokine regulators and is indispensable for protecting cells from tumor necrosis factor-induced apoptosis. Here we describe a case of male newborn with vesiculobullous cutaneous lesions over the left thigh and leg. We first considered the cutaneous lesions a skin infection, as they improved with intravenous antibiotics. However, recurrence and the need for repeated hospitalizations made us consider the differential diagnosis of IP, for which we performed a skin biopsy and chromosome analysis. The histology results were compatible with IP, that is, eosinophilic infiltration in the dermis and epidermis, and individual cell dyskeratinization. The chromosome analysis result was a normal 46, XY karyotype. Here we report the case of a male newborn with IP that manifested as multiple vesiculobullous skin lesions and was initially misdiagnosed as a recurrent skin infection.

Keywords

References

  1. Orphanet Report Series: rare diseases collection. Prevalence and incidence of rare diseases: bibliographic data [Internet]. Paris: Orphanet; 2020 [cited 2020 Aug 12]. Available from: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.
  2. Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, et al. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet 2012;21:1260-71. https://doi.org/10.1093/hmg/ddr556
  3. 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. https://doi.org/10.1067/mjd.2002.125949
  4. Cammarata-Scalisi F, Fusco F, Ursini MV. Incontinentia pigmenti. Actas Dermosifiliogr 2019;110:273-8. https://doi.org/10.1016/j.ad.2018.10.004
  5. Sulzberger MB. Uber eine bisher nicht beschriebene congenitale Pigmentanomalie [About a previously udescribed congenital pigment anomaly]. Arch Dermatol Syph (Berl) 1928;154:19-32. https://doi.org/10.1007/BF01828398
  6. Greene-Roethke C. Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols. J Pediatr Health Care 2017; 31:e45-52. https://doi.org/10.1016/j.pedhc.2017.07.003
  7. Fusco F, Valente V, Fergola D, Pescatore A, Lioi MB, Ursini MV. The incontinentia pigmenti genetic biobank: study design and cohort profile to facilitate research into a rare disease worldwide. Eur J Hum Genet 2019;27:1509-18. https://doi.org/10.1038/s41431-019-0451-0
  8. Sebban H, Courtois G. NF-kappaB and inflammation in genetic disease. Biochem Pharmacol 2006;72:1153-60. https://doi.org/10.1016/j.bcp.2006.08.006
  9. Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976;112:535-42. https://doi.org/10.1001/archderm.1976.01630280059017
  10. Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001;69:1210-7. https://doi.org/10.1086/324591
  11. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9. https://doi.org/10.1136/jmg.30.1.53
  12. Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2014;85:536-42. https://doi.org/10.1111/cge.12223
  13. Rosser T. Neurocutaneous disorders. Continuum (Minneap Minn) 2018;24:96-129. https://doi.org/10.1212/con.0000000000000562
  14. Park SS, Kook HI. A case of incontinentia pigmenti (BlochSulzberger type) in male. Korean J Dermatol 1982;20:487-491.
  15. Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, et al. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474-7. https://doi.org/10.3346/jkms.2006.21.3.474
  16. Ocana Jaramillo S, Del Boz J, Vera Casano A. Incontinentia pigmenti: a descriptive study of experience in two different hospitals. An Pediatr (Barc) 2020;92:3-12. https://doi.org/10.1016/j.anpedi.2019.04.004
  17. Kim TH, Choi YJ, Park HK, Kim CR, Lee HJ. A case of incontinentia pigmenti with multiple brain infarction. Neonatal Med 2013;20:228-32. https://doi.org/10.5385/nm.2013.20.2.228
  18. Cho MJ, Shin SM, Moon HK. A case of incontinentia pigmenti developed in a male newborn infant. Yeungnam Univ J Med 1998;15:381-90. https://doi.org/10.12701/yujm.1998.15.2.381
  19. Kim BJ, Lee DH, Shin HS, Won CH, Lee JH, Kwon OS. Incontinentia pigmenti in a male infant. Korean J Dermatol 2006;44: 624-6.
  20. Song JY, Na CH, Chung BS, Choi KC, Shin BS. A case of a surviving male infant with incontinentia pigmenti. Ann Dermatol 2008;20:134-7. https://doi.org/10.5021/ad.2008.20.3.134
  21. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003;139:1163-70. https://doi.org/10.1001/archderm.139.9.1163
  22. Pacheco TR, Levy M, Collyer JC, de Parra NP, Parra CA, Garay M, et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol 2006;55:251-5. https://doi.org/10.1016/j.jaad.2005.12.015
  23. Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis 2014;9:93. https://doi.org/10.1186/1750-1172-9-93