지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 141 - 146 (6page)
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초록· 키워드
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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 (23)
참고문헌 신청
Orphanet Report Series: rare diseases collection. Prevalence and incidence of rare diseases: bibliographic data
Fusco F / 2012 / Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms / Hum Mol Genet 21:1260~1271
Berlin AL / 2002 / Incontinentia pigmenti : a review and update on the molecular basis of pathophysiology / J Am Acad Dermatol 47:169~187
Cammarata-Scalisi F / 2019 / Incontinentia pigmenti / Actas Dermosifiliogr 110:273~278
Sulzberger MB / 1928 / Uber eine bisher nicht beschriebene congenitale Pigmentanomalie [About a previously udescribed congenital pigment anomaly] / Arch Dermatol Syph(Berl) 154:19~32
Fusco F / 2012 / Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms / Hum Mol Genet 21:1260~1271
Berlin AL / 2002 / Incontinentia pigmenti : a review and update on the molecular basis of pathophysiology / J Am Acad Dermatol 47:169~187
Cammarata-Scalisi F / 2019 / Incontinentia pigmenti / Actas Dermosifiliogr 110:273~278
Sulzberger MB / 1928 / Uber eine bisher nicht beschriebene congenitale Pigmentanomalie [About a previously udescribed congenital pigment anomaly] / Arch Dermatol Syph(Berl) 154:19~32
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