- 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 Lamellar Ichthyosis
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Lim YS, Han SJ, Park WI, Lee KJ
- KMID: 1683484
- J Korean Pediatr Soc.
- 1990 Jul;33(7):1018-1023.
No abstract available. -
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- A case of lamellar ichthyosis
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Cha DW, Chung KS, Kim KH, Kim DH
- KMID: 1699419
- J Korean Pediatr Soc.
- 1982 Sep;25(9):967-971.
No abstract available. -
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- Two Cases of Collodion Baby
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Cha SH, Park SD, Oh YK, Kang IK, Choi KC
- KMID: 2303498
- Korean J Dermatol.
- 1997 Feb;35(1):129-134.
A collodion baby is born with a tough, inelastic parchment-like membrane covering the whole body surface. As the meinbrane fissures and peels, a more characteristic ichthyosiform change is evident beneath... -
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- A Case of Harlequin Ichthyosis
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Kim EJ, Kim S, Ma SH
- KMID: 1982317
- Korean J Perinatol.
- 2002 Jun;13(2):181-184.
Harlequin ichthyosis is a most severe form of lamellar ichthyosis, which is one of congenital ichthyosis, and X- linked inherited, very rare, fatal congenital dermatologic disorder. At second trimaster in... -
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- Rud's Syndrome
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Herr H, Koh JK, Kim CH, Kim JU, Chung HS
- KMID: 2163983
- Ann Dermatol.
- 2000 Sep;12(3):206-210.
- doi: 10.5021/ad.2000.12.3.206
Rud's syndrome (RS), basically composed of ichthyosis, mental deficiency and hypogonadism, is a rare hereditary disease. Some varying dermatologic, neurologic, endocrinologic, ophthalmologic and musculoskeletal abnormalities have coincided with RS. No... -
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- A Case of Harlequin Ichthyosis
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Choi SK, Lee HS, Oh SJ, Hwang SJ, Park IY, Kim CJ, Kim CY
- KMID: 1838179
- Korean J Perinatol.
- 2005 Sep;16(3):266-269.
Harlequin ichthyosis, which is one of lamellar ichthyosis, is a severe and fatal congenital keratinization disorder with autosomal recessive inheritance. The cause of this disorder is not clear but related... -
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- The Genetic and Clinical Studies of Ichthyoses
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Lee HH, Kim YP
- KMID: 1678617
- Korean J Dermatol.
- 1982 Dec;20(6):859-866.
This study was attempted mainly to estimate the frequency of ichthyoses and its genetic characteristics among general population in Chonnam Province. One hundredand thirtyone subjects heing comprised of 121 with... -
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- Biochemical and Biological Progress in the Studies of Keratinization and Dyskeratosis
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Hideoki O, Kenji T, Makoto N, Yoshiike T
- KMID: 1679336
- Korean J Dermatol.
- 1985 Aug;23(4):429-440.
Recent topics of biochemical and biological progress in keratinization and dyskeratosis were reviewed and discussed. The main topics were as follows: (1) what is keratin (2) Differentiation of keratinocytes (keratinization),... -
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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 Case of Harlequin Fetus
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Bak EH, Choi AS, Nicholson , Kwark YS, Lee JH
- KMID: 2208646
- J Korean Pediatr Soc.
- 1981 Oct;24(10):1009-1013.
The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was... -
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- Expression of Filaggrin in the Ichthyosiform Dermatoses
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Cha SH, Kim JS, Won YH, Park SD
- KMID: 2303525
- Korean J Dermatol.
- 1996 Dec;34(6):933-941.
BACKGROUND: Ichthyosis is the name of a group of disorders characterized by a generalized, persistent, non-inflammatory scaling disorder of the skin. Filaggrin is an intermediate filament associated protein which functions... -
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- A Case of Harlequin Baby
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Seo SH, Chang YP, Ko KS
- KMID: 2188810
- J Korean Soc Neonatol.
- 1997 Jun;4(1):97-100.
Harlequin baby may represent the extreme form of lamellar ichthyosis or may be a distinct entity. It is inherited as an autosomal recessive trait, but it's cause is unknown, although... -
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- 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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- Electronmicroscopic Study of Collodion Baby
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Lee JB, Lee SH, Lee SN, Kim CS
- KMID: 2085529
- Korean J Dermatol.
- 1981 Feb;19(1):93-98.
Collodion baby is one of the rare congenital ichthyosiform dermatoses first described by Seeligmann in 1841. It is a phenotypic expression of several genotypes such as aex-linked ichthyosis and bullous... -
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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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