- Prenatal diagnosis of harlequin ichthyosis: a case report
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Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS
- KMID: 2467937
- Obstet Gynecol Sci.
- 2020 Jan;63(1):94-97.
- doi: 10.5468/ogs.2020.63.1.94
Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused... -
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- A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
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Kim J, Ko JM, Shin SH, Kim EK, Kim HS
- KMID: 2470099
- J Genet Med.
- 2019 Dec;16(2):62-66.
- doi: 10.5734/JGM.2019.16.2.62
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... -
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- Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
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Karim N, Iqbal J, Naeem M
- KMID: 2456239
- Ann Dermatol.
- 2019 Oct;31(5):581-584.
- doi: 10.5021/ad.2019.31.5.581
No abstract available. -
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- A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum
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Shin EH, Lim DH, Kim YD, Woo KI, Han J, Park JE, Chung TY, Ki CS
- KMID: 2443156
- J Korean Ophthalmol Soc.
- 2019 Apr;60(4):380-386.
- doi: 10.3341/jkos.2019.60.4.380
PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased... -
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- Surgical Treatment of Syndactyly of Harlequin Ichthyosis
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Ahn SJ, Hong JW
- KMID: 2419453
- Arch Hand Microsurg.
- 2018 Sep;23(3):184-189.
- doi: 10.12790/ahm.2018.23.3.184
Harlequin ichthyosis (HI) is a rare and most severe form of autosomal recessive congenital ichthyoses characterized by excessive hyperkeratosis. The skin anomalies affect the shape of eyes, ears, nose, mouth,... -
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- A Possible Case of Statin-Induced Ichthyosis in an Elderly Woman
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Ko KD, Kim KK, Baek JO, Suh HS, Hwang IC
- KMID: 2401724
- Korean J Fam Med.
- 2018 Jan;39(1):51-53.
- doi: 10.4082/kjfm.2018.39.1.51
Ichthyosis is a heterogeneous group of hereditary or acquired skin disorders, characterized by increased stratum corneum production. Several systemic diseases and many drugs can occasionally cause acquired ichthyosis. We report... -
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- Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis
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Yun JM, Na KS, Kim MS, Kim HS, Hwang HB
- KMID: 2388190
- J Korean Ophthalmol Soc.
- 2017 Aug;58(8):993-997.
- doi: 10.3341/jkos.2017.58.8.993
PURPOSE: To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked... -
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- Filaggrin Mutation in Korean Patients with Atopic Dermatitis
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On HR, Lee SE, Kim SE, Hong WJ, Kim HJ, Nomura T, Suzuki S, Shimizu H, Kim SC
- KMID: 2427129
- Yonsei Med J.
- 2017 Mar;58(2):395-400.
- doi: 10.3349/ymj.2017.58.2.395
PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and... -
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- Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
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Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
- KMID: 2373761
- J Korean Med Sci.
- 2016 Aug;31(8):1307-1318.
- doi: 10.3346/jkms.2016.31.8.1307
X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties... -
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- An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients
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Park KY, Li K, Seok J, Seo SJ
- KMID: 2373735
- J Korean Med Sci.
- 2016 Jul;31(7):1136-1142.
- doi: 10.3346/jkms.2016.31.7.1136
Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research... -
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- Technical Aspects and Difficulties in the Management of Head and Neck Cutaneous Malignancies in Xeroderma Pigmentosum
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Sibar S, Findikcioglu K, Erdal AI, Barut I, Ozmen S
- KMID: 2344333
- Arch Plast Surg.
- 2016 Jul;43(4):344-351.
- doi: 10.5999/aps.2016.43.4.344
BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis... -
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- A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
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Tavasoli A, Sayyahfar , Behnam B
- KMID: 2353158
- Korean J Pediatr.
- 2016 Jun;59(6):276-279.
- doi: 10.3345/kjp.2016.59.6.276
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or... -
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- Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
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Choi JY, Yun HH, Lee CG
- KMID: 2327698
- J Genet Med.
- 2016 Jun;13(1):20-25.
- doi: 10.5734/JGM.2016.13.1.20
PURPOSE: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first... -
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- Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology
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Sassa T, Kihara A
- KMID: 2170646
- Biomol Ther.
- 2014 Mar;22(2):83-92.
Fatty acids (FAs) are highly diverse in terms of carbon (C) chain-length and number of double bonds. FAs with C>20 are called very long-chain fatty acids (VLCFAs). VLCFAs are found... -
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- A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
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Ozcan D, Derbent M, Seckin D, Bikmaz YE, Agildere M, De Sandre-Giovannoli A, Levy N, Gurakan B
- KMID: 2265064
- Ann Dermatol.
- 2013 Nov;25(4):483-488.
- doi: 10.5021/ad.2013.25.4.483
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial... -
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- Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization
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Kim H, Seo EJ, Lee JO, Hong M, Shim JY, Lee BH
- KMID: 1845397
- Lab Med Online.
- 2013 Jan;3(1):50-55.
- doi: 10.3343/lmo.2013.3.1.50
Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe... -
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- Pityriasis Rotunda Treated with Combination of Topical and Oral Retinoid
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Kim HW, Park HC, Roh HS, Kim JE, Ko JY, Ro YS
- KMID: 2088505
- Korean J Dermatol.
- 2012 Oct;50(10):917-920.
Pityriasis rotunda (PR) is a rare disease characterized by persistent, sharply defined, oval, scaly patches of dry skin, localized mainly on the trunk and extremities. Its etiology remains unknown. However,... -
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- Pityriasis Rotunda Developed during Pregnancy
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Ko DY, Jeon SY, Hong JW, Lee KY, Lee CY, Kim KH, Song KH
- KMID: 2301670
- Korean J Dermatol.
- 2012 Mar;50(3):277-280.
Pityriasis rotunda is an uncommon dermatosis characterized by asymptomatic, multiple, widely distributed, round or oval-shaped, hyperpigmented or hypopigmented, fine, scaly patches. They typically involve the abdomen, the trunk and extremities.... -
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- Pityriasis Rotunda in Healthy Adults
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Jin SY, Choi YS, Lee JH, Kwon HB, Lee AY, Lee SH
- KMID: 2247575
- Korean J Dermatol.
- 2011 Jul;49(7):629-632.
Pityriasis rotunda is a rare disease characterized by round to oval, sharply defined, hypopigmented or hyperpigmented, scaly patches of variable number and size located trunk and extremity. The etiology is... -
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- Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients
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Kim EJ, Jeong MS, Li K, Park MK, Lee MK, Yoon Y, Cho DY, Seo SJ
- KMID: 2156658
- Ann Dermatol.
- 2011 May;23(2):170-176.
- doi: 10.5021/ad.2011.23.2.170
BACKGROUND: Filaggrin is a key protein that facilitates the formation of skin barrier by forming a stratum corneum. Mutations in the gene encoding filaggrin (FLG) have recently been reported in... -
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