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Prenatal diagnosis of harlequin ichthyosis: a case report

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

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

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

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

Karim N, Iqbal J, Naeem M

No abstract available.
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A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

Shin EH, Lim DH, Kim YD, Woo KI, Han J, Park JE, Chung TY, Ki CS

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

Ahn SJ, Hong JW

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

Ko KD, Kim KK, Baek JO, Suh HS, Hwang IC

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

Yun JM, Na KS, Kim MS, Kim HS, Hwang HB

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

On HR, Lee SE, Kim SE, Hong WJ, Kim HJ, Nomura T, Suzuki S, Shimizu H, Kim SC

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

Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH

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

Park KY, Li K, Seok J, Seo SJ

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

Sibar S, Findikcioglu K, Erdal AI, Barut I, Ozmen S

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

Tavasoli A, Sayyahfar , Behnam B

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

Choi JY, Yun HH, Lee CG

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

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?

Ozcan D, Derbent M, Seckin D, Bikmaz YE, Agildere M, De Sandre-Giovannoli A, Levy N, Gurakan B

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

Kim H, Seo EJ, Lee JO, Hong M, Shim JY, Lee BH

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

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

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

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

Kim EJ, Jeong MS, Li K, Park MK, Lee MK, Yoon Y, Cho DY, Seo SJ

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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