Abstract:
:Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Patients with these severe types of ichthyoses frequently show severe hyperkeratosis and scales over a large part of the body surface form birth and their quality of life is often severely affected. Recently, research into the pathomechanisms of these severe congenital ichthyoses have advanced dramatically and led to the identification of several causative genes and molecules underlying the genetic defects. To date, seven loci have been identified that are associated with ARCI and, among them, five causative genes and molecules have been detected. The five genes are transglutaminase 1 gene (TGM1), ABCA12, two lipoxygenase genes, ALOXE3 and ALOX12B and ichthyin. One of these components, ABCA12, has recently been shown to be a keratinocyte lipid transporter associated with lipid transport in lamellar granules and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in the HI phenotype. Transglutaminse 1 deficiency was reported to cause a malformed cornified cell envelope leading to a defect in the intercellular lipid layers in the stratum corneum and defective stratum corneum barrier function resulting in an ichthyosis phenotype. Thus, defective intercellular lipid layers are major findings in autosomal recessive congenital ichthyoses. Information concerning ARCI genetic defects and disease pathomechanisms are beneficial for providing better treatments and genetic counseling including prenatal diagnosis for families affect by ichthyoses.
journal_name
J Dermatol Scijournal_title
Journal of dermatological scienceauthors
Akiyama Mdoi
10.1016/j.jdermsci.2006.01.003subject
Has Abstractpub_date
2006-05-01 00:00:00pages
83-9issue
2eissn
0923-1811issn
1873-569Xpii
S0923-1811(06)00009-0journal_volume
42pub_type
杂志文章,评审abstract:BACKGROUND:IL36RN mutation has been identified as one pathogenesis of generalized pustular psoriasis, but the existence of GPP patients without mutation makes this controversial. OBJECTIVE:Our study aimed at assessing the differences in clinical profiles of children with GPP, with and without IL36RN mutation. METHODS...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2016.11.008
更新日期:2017-03-01 00:00:00
abstract::The integrity of the epidermis depends on the cohesion between keratinocytes, and desmosomes are the main adhesion structures. When cells become cornified, desmosomes are modified and transformed into corneodesmosomes. Mutations in the genes encoding desmosomal components underlie several skin diseases including palmo...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2014.02.005
更新日期:2014-05-01 00:00:00
abstract::An immunoperoxidase technique was performed to detect keratinolytic proteinase (KPase) in sections of the skin taken from guinea pigs infected with Microsporum canis and in cultured M. canis using polyclonal antisera to purified KPase. Of tissue samples from guinea pigs infected with M. canis, all sections of erythema...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(90)90015-6
更新日期:1990-11-01 00:00:00
abstract::Transdermal system(s) bearing captopril were developed using a low temperature casting method and aqueous based polymers viz., eudragit RL-100 and polyvinyl pyrrolidone (PVP). The developed system(s) were subjected to an in vitro characterization study. The results were compared with the transdermal systems of the sam...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(95)00403-f
更新日期:1995-11-01 00:00:00
abstract::Over the last decade, animal models of atopic dermatitis (AD) have received increasing attention. They include NC/Nga mice, a hapten-induced mouse model, and transgenic and knockout mouse models. Although the pathogenesis of skin inflammation elicited in these models and that in AD are not quite the same, it is pertin...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2004.02.013
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:The autoantigen for the major type of linear IgA bullous dermatosis (LAD, lamina lucida type) is the shed ectodomain of BP180. However, it is unknown why most LAD sera react with the shed ectodomain but not with the intact BP180/type XVII collagen. OBJECTIVE:The aim of this study was to characterize the uni...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2014.07.008
更新日期:2014-10-01 00:00:00
abstract::Survival and extracellular matrix gene expression were studied by viable cell count assay and Northern transfer analysis to compare the sensitivity of normal skin and keloid fibroblasts towards x-irradiation. As the dosage of radiation increased, the numbers of viable cells in irradiated groups were remarkably decreas...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)90318-2
更新日期:1994-08-01 00:00:00
abstract:BACKGROUND:Mesenchymal stem cells (MSCs) are likely involved in pathological processes of immune-related diseases, including psoriasis, because of their immunoregulatory and pro-angiogenic effects. DNA methylation plays an essential role in regulating gene expression and maintaining cell function. OBJECTIVE:This study...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2013.07.002
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:While immunologic events elicited by acute barrier disruption or UVB irradiation have been studied in detail, the biological sequel of multiple insults to the skin is not well understood. OBJECTIVE:Since the skin would receive a variety of simultaneous stimuli in daily life, we tested the effects of sequent...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(03)00177-4
更新日期:2003-12-01 00:00:00
abstract:BACKGROUND:In vivo application of confocal Raman spectroscopy (CRS) allows non-invasive depth measurement of the skin. Thereby obtained knowledge of the skin composition is essential to reliably assess the actual skin state. Besides other components, the skin cholesterol concentration is of interest; however, little is...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.08.002
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND:Optical coherence tomography (OCT) is a promising non-invasive imaging technique that has not systematically been studied in skin cancer such as basal cell carcinoma (BCC). OBJECTIVE:We aimed, first, to describe the in vivo histologic features of BCC by using OCT, and second, to find out whether it is possi...
journal_title:Journal of dermatological science
pub_type: 临床试验,杂志文章
doi:10.1016/j.jdermsci.2006.11.012
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Lichen planopilaris (LPP) and pseudopelade of Brocq (PPB) are two scarring alopecia diagnoses that exhibit similar clinical features. Some suggest LPP and PPB are not distinct diseases, but rather different clinical presentations in a spectrum derived from the same underlying pathogenic mechanism. OBJECTIVE...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2009.10.011
更新日期:2010-01-01 00:00:00
abstract::The effect of cyclosporin A (CsA) on suppressor T cells (Ts) was evaluated by in vitro incubation with afferent-phase Ts (Ts-aff) and efferent-phase Ts (Ts-eff). 2,4-Dinitro-1-fluorobenzene (DNFB) and hen egg-white lysozyme (HEL) were used as antigens. Both Ts-aff and Ts-eff were resistant to high- and low-dose CsA tr...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(90)90218-3
更新日期:1990-03-01 00:00:00
abstract::Langerhans cells are dendritic cells situated in the mammalian epidermis. In human epidermis, the concentration is between 460 and 1000 mm(-2). Langerhans cells fulfill an essential role in skin immune responses. Numerous scientific reports on Langerhans cells have appeared, but with no systematic research on the patt...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(00)00129-8
更新日期:2001-04-01 00:00:00
abstract::Skin biopsies from four patients with similar clinical phenotypes of non-lethal junctional epidermolysis bullosa (JEB) were investigated by electron microscopy and immunohistochemistry. Electron microscopy revealed cleavage within the lamina lucida in each case, but in addition, there was considerable variability in t...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(96)00554-3
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Main pathway in human melanocytes through which signal from the melanocortin system reaches the melanogenesis enzymes is cAMP/PKA pathway and it is modulated by Wnt and MAPK pathways. In our previous study we established significant increase of melanocortin receptor expression in unaffected skin of vitiligo ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2008.03.013
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:cicatricial pemphigoid and bullous pemphigoid are characterized by circulating autoantibodies to the hemidesmosomal protein, BP180. Different clinical features between cicatricial pemphigoid and bullous pemphigoid appear to correlate with distinct target epitopes on BP180. Previous studies demonstrated that ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(03)00035-5
更新日期:2003-06-01 00:00:00
abstract::Clinical analysis was performed on anti-cardiolipin x beta2 glycoprotein 1 (ACL x beta2 GP1) antibody positive patients with collagen vascular diseases. Nine patients out of 89 showed positive aCL x beta2 GP1 antibody which was a relatively lower percentage compared to that of othoffanti-phospholipid antibodies, such ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)00380-w
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Lichen sclerosus (LS) is an acquired inflammatory mucocutaneous disease affecting the anogenital area, characterized histologically by hyalinosis and thickened vessel walls in the dermis. The presence of serum autoantibodies against extracellular matrix protein 1 (ECM1) in LS patients may suggest its involve...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2020.06.010
更新日期:2020-11-01 00:00:00
abstract::We isolated 73 streptococcus strains (41 from infections, and 32 from colonization) from various skin diseases between March, 1994, and June, 1998. In 29 out of 41 cases of infective origin, Staphylococcus aureus strains were simultaneously isolated. Twenty-four out of 28 patients with impetigo were suffering from ato...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(98)00043-7
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Cutaneous T cell lymphoma (CTCL) comprises a heterogeneous group of skin-homing T cell tumors. The small guanosine triphosphate effector p21-activated kinase 1 (PAK1) plays an important role in many fundamental cellular functions, including cell motility, proliferation, and apoptosis. The expression of PAK1 ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.11.019
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Atopic dermatitis (AD) is an inflammatory skin disease with an associated barrier dysfunction and Staphylococcus aureus infection. The mainstay steroid and calcineurin inhibitor therapy shows some adverse effects. 2,4-Dimethoxy-6-methylbenzene-1,3-diol (DMD) is a benzenoid isolated from Antrodia camphorata. ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2018.09.002
更新日期:2018-11-01 00:00:00
abstract::The prick test is a useful skin test for diagnosing immediate hypersensitivity response. Sometimes it is necessary to perform prick tests on patients who have already received antihistamines or corticosteroids. It is, however, occasionally uncertain whether the results of prick tests are reliable. In this study, the i...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00069-5
更新日期:2002-12-01 00:00:00
abstract::Herpes gestationis (HG) is a rare pregnancy-associated disease. The aim of this study was to compare various immunohistochemical and immunobiochemical techniques with respect to their diagnostic sensitivity for HG. We studied 43 HG sera; only half of these reacted with the basement membrane zone (BMZ) with both indire...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(96)00509-9
更新日期:1996-11-01 00:00:00
abstract::Histopathologically, the skin lesions of acute herpes zoster (AHZ) are characterized by epidermal necrotic vesicles with inflammation. Nitric oxide (NO) is generated from L-arginine by nitric oxide synthase (NOS), and immune inflammation involves the activation of NOS in both effector cells and target cells. NO can ca...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00035-x
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:Various cutaneous manifestations have been observed in patients with COVID-19 infection. However, overall similarities in the clinical presentation of these dermatological manifestations have not yet been summarized. OBJECTIVE:This review aims to provide an overview of various cutaneous manifestations in pa...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2020.04.011
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:Atopic dermatitis is a common skin disease characterized by a Th2 cell-dominant inflammatory infiltrate, elevated serum IgE levels and impaired epidermal barrier function. It is associated to abnormal epidermal lamellar body secretion, producing alteration in lipid composition and extracellular lamellar memb...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2018.01.010
更新日期:2018-05-01 00:00:00
abstract::The effects of Werner's syndrome (WS) fibroblast-conditioned medium on cell proliferation and collagen production of normal fibroblasts were studied using four WS fibroblast strains. The conditioned medium from the WS fibroblasts brought about activation of normal fibroblast proliferation, whereas, that from late pass...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)90097-3
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Ultraviolet (UV) irradiation is the main contributing factor for skin aging. UV irradiation induces epigenetic changes in skin. It increases the activity of histone acetylases (HATs) but decreases that of histone deacetylases (HDACs). OBJECTIVE:We aimed to investigate alterations in all classes of HDACs and...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2020.11.008
更新日期:2020-12-03 00:00:00
abstract:BACKGROUND:Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by 3 major symptoms: pachydermia including cutis verticis gyrata (CVG), periostosis, and finger clubbing. Recently, a homozygous mutation in the gene HPGD, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), was found to be assoc...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2012.07.008
更新日期:2012-10-01 00:00:00