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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Neonatology
2020-08-01
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| Series: | Neonatal Medicine |
| Subjects: | |
| Online Access: | http://www.neo-med.org/upload/pdf/nm-2020-27-3-141.pdf |
| 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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| ISSN: | 2287-9412 2287-9803 |