Neonatal Medicine

  • 제27권3호
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  • Pages.141-146
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  • 2020
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
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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)
  • 투고 : 2020.05.06
  • 심사 : 2020.06.22
  • 발행 : 2020.08.31
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초록

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.

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참고문헌

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