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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 576 - 580 (5page)
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초록· 키워드
오류제보하기
Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
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등록된 정보가 없습니다.
참고문헌 (27)
참고문헌 신청
Ito M / 1952 / Studies of melanin. XI. Incontinentia pigmenti achromians:a singular case of nevus depigmentosus systematicus bilateralis / Tokoku J Exp Med (55 Suppl):S57~S59
Taibjee SM / 2004 / Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism : the role of pigmentary genes / Br J Dermatol 151:269~282
Smahi A / 2000 / Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium / Nature 405:466~472
Happle R / 1998 / Incontinentia pigmenti versus hypomelanosis of Ito : the whys and wherefores of a confusing issue / Am J Med Genet 79:64~65
Küster W / 1999 / Hypomelanosis of Ito : no entity, but a cutaneous sign of mosaicism / Am J Med Genet 85:346~350
Taibjee SM / 2004 / Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism : the role of pigmentary genes / Br J Dermatol 151:269~282
Smahi A / 2000 / Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium / Nature 405:466~472
Happle R / 1998 / Incontinentia pigmenti versus hypomelanosis of Ito : the whys and wherefores of a confusing issue / Am J Med Genet 79:64~65
Küster W / 1999 / Hypomelanosis of Ito : no entity, but a cutaneous sign of mosaicism / Am J Med Genet 85:346~350
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