Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection
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...
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| Format: | Book |
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Korean Society of Neonatology,
2020-08-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 2287-9412 2287-9803 10.5385/nm.2020.27.3.141 |