ABSTRACT
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 ichthyosis. CASE SUMMARY: 19-year old identical twin brothers with itching senses and hereditary thick scaly skin of the extremity and trunk visited our dermatologic clinic. Upon visiting, an ophthalmologic consultation with anterior segment examination showed diffuse punctate corneal opacities in the pre-Descemet layer. On MLPA analysis of the identical twin brothers, a definitive diagnosis of X-linked ichthyosis was made by identifying STS gene deletion. CONCLUSIONS: Identification of the deletion and mutation of the involved gene using gene analysis can provide insight to diagnosis and clinical characteristics of X-linked ichthyosis.
Subject(s)
Humans , Cornea , Corneal Opacity , Diagnosis , Extremities , Gene Deletion , Ichthyosis , Multiplex Polymerase Chain Reaction , Pruritus , Siblings , Skin , Steryl-Sulfatase , Twins, MonozygoticABSTRACT
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 and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.
Subject(s)
Adolescent , Adult , Child , Humans , Male , Young Adult , Asian People/genetics , Chromosomes, Human, X , Comparative Genomic Hybridization , Cytokines/metabolism , Hydrogen-Ion Concentration , Ichthyosis/diagnosis , In Situ Hybridization, Fluorescence , Intermediate Filament Proteins/genetics , Kallikreins/genetics , Polymorphism, Single Nucleotide , Proteinase Inhibitory Proteins, Secretory/genetics , Republic of Korea , Skin/metabolismABSTRACT
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 and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.
Subject(s)
Adolescent , Adult , Child , Humans , Male , Young Adult , Asian People/genetics , Chromosomes, Human, X , Comparative Genomic Hybridization , Cytokines/metabolism , Hydrogen-Ion Concentration , Ichthyosis/diagnosis , In Situ Hybridization, Fluorescence , Intermediate Filament Proteins/genetics , Kallikreins/genetics , Polymorphism, Single Nucleotide , Proteinase Inhibitory Proteins, Secretory/genetics , Republic of Korea , Skin/metabolismABSTRACT
To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.
ABSTRACT
X-linked ichthyosis is a hereditary dermatosis characterized by large dark and thick scaly skin of trunk, extremities, scalp and neck. Rare manifested ocular signs include scales on lid and lashes, corneal opacity, lens opacity, and peripheral retinal granular hyperpigmentation. The authors experienced a case of diffuse punctate corneal opacities observed in the deep stroma or pre- Descemet's layer which developed in a 12-year old male patient who visited our clinic complaining symtoms of itching and dark thick scales on trunk, extremities, and scalp since at birth a.nd diagnosed as X-linked ichthyosis by clinical and histologic features.
Subject(s)
Child , Humans , Male , Cataract , Corneal Opacity , Extremities , Hyperpigmentation , Ichthyosis , Neck , Parturition , Pruritus , Retinaldehyde , Scalp , Skin , Skin Diseases , Weights and MeasuresABSTRACT
We report a case of X-linked ichthyosis in a 19 year-old male patient who has been covered with brown to black colored thick scales on the lateral aspect of chest, upper abdomen and inner aspect of both extremities since one month at, birth. Histopathologic findings showed hyperkeratosis and papillomatosis with normal granular cell layers in the epidermis. On electron microscopy, multilayered keratins with increased melanosomes in the stratum corneum were noted. In his family, his cousin is also affected by the same disease.