Neonatal Med.  2020 Aug;27(3):141-146. 10.5385/nm.2020.27.3.141.

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

• Park SH
• Nam KH
• Ho YH

• KMID: 2505665
• DOI: http://doi.org/10.5385/nm.2020.27.3.141

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 hospitali zations 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.

Keyword

Incontinentia pigmenti; Genetic diseases, inborn; I-kappa B kinase

Figure

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  Figure 1. On the 4th day, clustered erythematous vesicles and light brownish macules are visible along the Blaschko line on the left extremities.n

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  Figure 2. On the 11th day, blistered skin is replaced by crusts and dark brown colored pigmented macules on the left extremities.

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  Figure 3. Histologic features of eosinophilic infiltration (white arrows) in the dermis and epidermis accompanying the vesicles and spongiosis, and individual cell dyskeratinization (asterisk) with keratin pearl (black arrow) formation (H&E stain, ×200).

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