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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
- 62 - 66 (5page)
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초록· 키워드
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Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.
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참고문헌 (20)
참고문헌 신청
Digiovanna JJ / 2013 / Systemic retinoids in the management of ichthyoses and related skin types / Dermatol Ther 26:26~38
Glick JB / 2017 / Improved management of Harlequin ichthyosis with advances in neonatal intensive care / Pediatrics 139:e20161003
Scott CA / 2013 / Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction / Cell Tissue Res 351:281~288
Sung Jae Ahn / 2018 / Surgical Treatment of Syndactyly of Harlequin Ichthyosis / Archives of Hand and Microsurgery 23(3):184~189
Choi SK / 2005 / A case of Harlequin ichthyosis / Korean J Perinatol 16:266~269
Glick JB / 2017 / Improved management of Harlequin ichthyosis with advances in neonatal intensive care / Pediatrics 139:e20161003
Scott CA / 2013 / Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction / Cell Tissue Res 351:281~288
Sung Jae Ahn / 2018 / Surgical Treatment of Syndactyly of Harlequin Ichthyosis / Archives of Hand and Microsurgery 23(3):184~189
Choi SK / 2005 / A case of Harlequin ichthyosis / Korean J Perinatol 16:266~269
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