A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Abstract:

:Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.Gly533Metfs*82) in exon 7 (V2 tail domain) of KRT1, which, by replacing the glycine-serine-rich tail of KRT1 with a series of 75 alanine-rich amino acids, produces a mild IHCM phenotype. The patient with the mutation presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no history of blistering.

journal_name

Clin Exp Dermatol

authors

Yang Z,Xu Z,Zhang N,Ma L

doi

10.1111/ced.14193

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

719-721

issue

6

eissn

0307-6938

issn

1365-2230

journal_volume

45

pub_type

杂志文章
  • Cutaneous vasculitis and glomerulonephritis associated with C4 deficiency.

    abstract::Complete deficiency of the fourth component of complement (C4) is an extremely rare condition. However, it has been reported that partial C4 deficiency can occur in normal subjects, and is associated with several immune diseases. We report a 44-year-old woman who developed slight oedema and punctate purpura on her low...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2012.04423.x

    authors: Kosaka S,Osada S,Kaneko T,Nishimura S,Kawana S

    更新日期:2013-07-01 00:00:00

  • High-dose prednisolone and psoralen ultraviolet A combination therapy in 36 patients with vitiligo.

    abstract::It is well known that systemic corticosteroids arrest the progress of vitiligo and lead to repigmentation, but they may produce unacceptable side-effects. The use of high-dose prednisolone therapy to minimize the side-effects of systemic steroids has been reported, but there have been no reports on the effectiveness o...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02387.x

    authors: Lee Y,Seo YJ,Lee JH,Park JK

    更新日期:2007-09-01 00:00:00

  • Patch testing for vulval symptoms: our experience with 282 patients.

    abstract:BACKGROUND:Vulval allergic contact dermatitis (ACD) may be a primary disorder or may be associated with an underlying vulval dermatosis. Few studies have looked at the incidence of ACD and the allergens responsible for it. AIMS:We report the incidence of vulval ACD and the responsible allergens in 282 patients investi...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12330

    authors: Al-Niaimi F,Felton S,Williams J

    更新日期:2014-06-01 00:00:00

  • Folliculosebaceous cystic hamartoma arising within a port-wine stain.

    abstract::A 34-year-old woman presented with 2-year history of a dome-shaped papule on a well-circumscribed, thickened, port-wine stain on the left side of the chin. Squeezing on the port-wine-stain plaque revealed many comedos within dilated follicular orifices. The papule was excised and submitted for histological examination...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.01838.x

    authors: Yang CH,Shen SC,Yeh JT,Tsai YL,Hong HS

    更新日期:2005-09-01 00:00:00

  • Anxiety and depression seem less common in patients with autoreactive chronic spontaneous urticaria.

    abstract::Chronic spontaneous urticaria (CSU) is a common and disabling skin disease which is often associated with psychiatric comorbidities such as anxiety and depression. These conditions are widely thought to cause, drive and/or maintain CSU, and have been reported as making an important contribution to the low quality of l...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12190

    authors: Weller K,Koti I,Makris M,Maurer M

    更新日期:2013-12-01 00:00:00

  • Polymorphic eruption of pregnancy developing in the puerperium.

    abstract::Polymorphic eruption of pregnancy is an uncommon disorder, usually developing in the third trimester and rapidly resolving in the first few weeks postpartum. It has been suggested that multiple pregnancy and excessive weight gain are associated features. We report a patient with the clinical and histological features ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2002.01099.x

    authors: Kirkup ME,Dunnill MG

    更新日期:2002-11-01 00:00:00

  • Cutaneous squamous cell carcinoma in Calabar, southern Nigeria.

    abstract:BACKGROUND:Several studies have shown that in Africa squamous cell carcinoma (SCC) is commoner than other skin malignancies. The risk factors are grouped generally into solar and nonsolar factors and their contributions vary with race, geographical region and site of lesion. This study attempted to identify risk factor...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03243.x

    authors: Asuquo ME,Udosen AM,Ikpeme IA,Ngim NE,Otei OO,Ebughe G,Bassey EE

    更新日期:2009-12-01 00:00:00

  • Risk factors associated with sensitive skin and potential role of lifestyle habits: a cross-sectional study.

    abstract::Sensitive skin (SS) is a widespread condition, but still not completely understood. To identify risk factors that increase the likelihood of SS, 258 women aged between 20 and 65 years old and resident in the Netherlands were surveyed by questionnaire, which included questions on sociodemographic characteristics (age g...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.13133

    authors: Falcone D,Richters RJH,Uzunbajakava NE,van Erp PEJ,van de Kerkhof PCM

    更新日期:2017-08-01 00:00:00

  • The role of cyclooxygenase-2 and prostaglandin E2 in the pathogenesis of cutaneous lichen planus.

    abstract:BACKGROUND:Lichen planus (LP) is an inflammatory disease of the skin and mucous membranes. Autoimmunity has been suggested as a possible cause of this disease. The cyclooxygenase enzymes (COX-1, COX-2) are the key enzymes in the conversion of arachidonic acid into prostaglandins. Prostaglandin E2 (PGE2), a key product ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12663

    authors: El-Rifaie AA,Rashed LA,Doss RW

    更新日期:2015-12-01 00:00:00

  • Famotidine in the treatment of acute urticaria.

    abstract::Recent studies suggest that histamine H2-receptor antagonists may be useful in the treatment of urticaria. This study was conducted to determine whether famotidine, a H2 antagonist, is effective in the treatment of acute urticaria and compare its effect with that of the H1 antagonist diphenhydramine. In this prospecti...

    journal_title:Clinical and experimental dermatology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2230.2000.00609.x

    authors: Watson NT,Weiss EL,Harter PM

    更新日期:2000-05-01 00:00:00

  • Paraneoplastic pemphigus associated with Castleman's tumour.

    abstract::We present a case of paraneoplastic pemphigus associated with Castleman's disease. Our patient had stomatitis and vulvar erosions followed by a cutaneous polymorphous eruption. Investigations for neoplasia disclosed a Castleman's tumour suggesting the diagnosis of paraneoplastic pemphigus. The diagnosis was supported ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2000.00618.x

    authors: Caneppele S,Picart N,Bayle-Lebey P,Paul J,Irsutti M,Oksman F,Joly P,Bazex J

    更新日期:2000-05-01 00:00:00

  • Increased drug reactions in HIV-1-positive patients: a possible explanation based on patterns of immune dysregulation seen in HIV-1 disease. The Military Medical Consortium for the Advancement of Retroviral Research (MMCARR).

    abstract::Drug reactions are common in HIV-1 disease, with the incidence having been reported to increase with increasing stage and with CD4+ T-cell counts below 200/microliters. However, there have been numerous reports of patients in which rechallenge, dosing changes or continued therapy have resulted in no recurrence or else...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Smith KJ,Skelton HG,Yeager J,Ledsky R,Ng TH,Wagner KF

    更新日期:1997-05-01 00:00:00

  • Is blistering distal dactylitis a variant of bullous impetigo?

    abstract::Blistering distal dactylitis (BDD) manifests as acral oval bullae 10-30 mm in diameter, and is caused by infection with Gram-positive bacteria. BDD was first linked to infection with group A beta-haemolytic streptococcus in children, but has more recently linked to Staphylococcus aureus and noted in adults. BDD most c...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02379.x

    authors: Scheinfeld NS

    更新日期:2007-05-01 00:00:00

  • Efficacy and safety of a lindane 1% treatment regimen for scabies, confirmed by dermoscopy-guided skin scraping with microscopic examination.

    abstract:BACKGROUND:This is the first study investigating scabies treatment since 1992 to involve examination of patients with microscopically confirmed scabies. AIM:To assess the efficacy of 1% lindane cream in treating microscopically confirmed scabies, and to determine the utility of dermoscopy-guided skin scraping with mic...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12643

    authors: Park SE,Her Y,Kim SS,Kim CW

    更新日期:2015-08-01 00:00:00

  • Reticular variant of mid-dermal elastolysis after insertion of a pacemaker.

    abstract::Summary Mid-dermal elastolysis is an unusual process characterized by the absence of the elastic fibres within the mid-dermis. The disappearance of these fibres causes fine wrinkles (type 1) or perifollicular protrusions (type 2) affecting the trunk, neck and arms. There is a female predilection, and most patients hav...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03736.x

    authors: Cutillas E,Ferrando FJ,Martí ME,Mateu A,Rausell N

    更新日期:2010-07-01 00:00:00

  • Angiolymphoid hyperplasia with eosinophilia on the tongue.

    abstract::Angiolymphoid hyperplasia with eosinophilia (AHE) is a benign reactive vascular lesion characterized by a proliferation of small to medium sized vascular structures lined by epithelioid endothelial cells. We report a 75-year-old woman with a 1-month history of a painful ulcer on the tongue. Histopathological findings ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03453.x

    authors: Garrido-Ríos AA,Sanz-Muñoz C,Torrero-Antón MV,Martínez-García G,Miranda-Romero A

    更新日期:2009-12-01 00:00:00

  • Evaluation of serum cardiac troponin I and N-terminal pro-B-type natriuretic peptide levels in patients with alopecia areata.

    abstract::Alopecia areata (AA) is a recurrent, immune-mediated, hair-loss disorder. It is associated with other autoimmune disorders that carry a high risk of cardiovascular disease (CVD). However, there is a lack of reports on the association of cardiovascular comorbidities and AA. Cardiac troponin I is a biomarker of myocardi...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14425

    authors: El-Sayed Mahmoud Marie R,El-Sayed GAK,Attia FM,Gomaa AHA

    更新日期:2021-01-01 00:00:00

  • Intercellular IgA dermatosis (IgA pemphigus)--two cases illustrating the clinical heterogeneity of this disorder.

    abstract::IgA pemphigus is rare but may be underdiagnosed. We describe two cases, a 50-year-old female with a pustular eruption resembling subcorneal pustular dermatosis and a 55-year-old male with a pruritic vesiculopustular eruption simulating dermatitis herpetiformis. They illustrate the clinical heterogeneity of IgA pemphig...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.1999.00534.x

    authors: Harman KE,Holmes G,Bhogal BS,McFadden J,Black MM

    更新日期:1999-11-01 00:00:00

  • Downregulation of kynureninase restrains cutaneous squamous cell carcinoma proliferation and represses the PI3K/AKT pathway.

    abstract:BACKGROUND:The protein kynureninase (KYNU) has recently been reported to participate in the pathological processes of various diseases. AIM:To explore the expression and the biological function of KYNU in cutaneous squamous cell carcinoma (cSCC). METHODS:Expression of KYNU in cSCC cell lines and tissues was firstly e...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14072

    authors: Ci C,Wu C,Lyu D,Chang X,He C,Liu W,Chen L,Ding W

    更新日期:2020-03-01 00:00:00

  • Bullous skin reaction seen after extravasation of calcium gluconate.

    abstract::Intravenous (IV) calcium is usually given to temporarily treat the effects of hyperkalaemia on muscle and heart. When extravasation of a calcium gluconate infusion occurs, there may be rapid and marked swelling and erythema, with signs of soft-tissue necrosis or infection, and ensuing extensive local calcification, ca...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2012.04436.x

    authors: Celbek G,Gungor A,Albayrak H,Kir S,Guvenc SC,Aydin Y

    更新日期:2013-03-01 00:00:00

  • Paracetamol-induced fixed drug eruption with positive immunofluorescence findings.

    abstract::A 93-year-old woman with an 8-year history of episodes of fixed drug eruption due to paracetamol is described. The rash was characterized by bullae, crusted lesions, hyperpigmented and erythematous patches as well as lesions resembling toxic epidermal necrolysis. Direct immunofluorescence revealed deposition of IgG an...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1990.tb02093.x

    authors: Duhra P,Porter DI

    更新日期:1990-07-01 00:00:00

  • Clinical and histological characterization of vesicular COVID-19 rashes: a prospective study in a tertiary care hospital.

    abstract::COVID-19 is an infectious disease caused by severe acute respiratory coronavirus 2 (SARS-CoV-2). Vesicular skin rashes have been reported as associated with COVID-19, but there is little information about this cutaneous manifestation. We designed a prospective observational study of patients diagnosed with COVID-19 wh...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14277

    authors: Fernandez-Nieto D,Ortega-Quijano D,Jimenez-Cauhe J,Burgos-Blasco P,de Perosanz-Lobo D,Suarez-Valle A,Cortes-Cuevas JL,Carretero I,Garcia-Del Real C,Fernandez-Guarino M

    更新日期:2020-10-01 00:00:00

  • Aspergillus fumigatus Majocchi's granuloma in a patient with acquired immunodeficiency syndrome.

    abstract::Majocchi's granuloma, also known as nodular granulomatous perifolliculitis, is an uncommon fungal infection of the skin and subcutaneous tissue. It can occur in healthy and immunocompromised patients. The most common cause of Majocchi's granuloma is Trichophyton rubrum. We report a case of a Majocchi's granuloma cause...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2007.02623.x

    authors: Saadat P,Kappel S,Young S,Abrishami M,Vadmal MS

    更新日期:2008-07-01 00:00:00

  • Combined cutaneous hamartoma encompassing benign melanocytic naevus, vellus hair cyst and epidermoid cyst.

    abstract::We describe a combined cutaneous hamartoma in a 57-year-old man, which comprised a vellus hair cyst, an epidermoid cyst and an intradermal melanocytic naevus in a single facial tumour. The vellus hair cyst was filled with keratinous material with unusual slit-like lacunae. While numerous cases of epidermoid cyst have ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2000.00569.x

    authors: Tsuruta D,Nakagawa K,Taniguchi S,Kobayashi H,Hamada T,Ishii M

    更新日期:2000-01-01 00:00:00

  • Histopathological study of perilesional skin in patients diagnosed with nonmelanoma skin cancer.

    abstract:BACKGROUND:Epidemiological and clinical data suggest that actinic damage to the skin is an important predictor of skin carcinogenesis. AIM:To investigate the association of squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with sun-damage alterations seen by histopathology. METHOD:In the current prospectiv...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12713

    authors: Apalla Z,Calzavara-Pinton P,Lallas A,Argenziano G,Kyrgidis A,Crotti S,Facchetti F,Monari P,Gualdi G

    更新日期:2016-01-01 00:00:00

  • Therapeutic efficacy and safety of oral tranexamic acid and that of tranexamic acid local infiltration with microinjections in patients with melasma: a comparative study.

    abstract:BACKGROUND:Tranexamic acid (TXA) has been used orally, intravenously, topically and intradermally (microinjection, microneedling) for treating melasma. However, the comparative efficacy of these different routes of administration remains underevaluated. AIM:To ascertain the comparative efficacy of different routes of ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/ced.13164

    authors: Sharma R,Mahajan VK,Mehta KS,Chauhan PS,Rawat R,Shiny TN

    更新日期:2017-10-01 00:00:00

  • Corticosteroid-induced contact dermatitis: a pragmatic approach.

    abstract::It is only in the past 10 years that the allergenic potential of topical corticosteroids has been fully realized. This has an important impact on the management of patients with chronic eczematous eruptions. Nonhalogenated topical steroids are more frequent sensitizers than halogenated molecules. Tixocortol pivalate a...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2230.2000.00637.x

    authors: English JS

    更新日期:2000-06-01 00:00:00

  • Giant condyloma acuminata of Buschke-Löwenstein: successful treatment with a combination of surgical excision, oral acitretin and topical imiquimod.

    abstract::Human papillomavirus (HPV) is the most common sexually transmitted disorder in young, sexually active populations in the USA and Europe. Giant condyloma acuminatum (GCA) is a unique variant of condyloma acuminata, characterized by local aggressive behaviour despite benign histology. It carries a substantial risk of sq...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2008.02938.x

    authors: Erkek E,Basar H,Bozdogan O,Emeksiz MC

    更新日期:2009-04-01 00:00:00

  • Natural progression of male pattern baldness in young men.

    abstract::Twenty-six men who presented with male pattern baldness (androgen-dependent alopecia), were quantitatively evaluated for scalp hair variables and compared with 13 age-matched controls. Compared to controls, significant mean differences for hair variables were found in the frontal-vertex area, while in the occipital ar...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1991.tb00343.x

    authors: Rushton DH,Ramsay ID,Norris MJ,Gilkes JJ

    更新日期:1991-05-01 00:00:00

  • Erysipelas complicating chronic discoid lupus erythematosus of the face--a case report and review of erysipelas.

    abstract::We present a case of erysipelas which complicated chronic discoid lupus erythematosus (CDLE) of the face. The diagnosis and implications for management are discussed. The changing epidemiology and clinical spectrum of erysipelas are reviewed. ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.1989.tb00891.x

    authors: Keefe M,Wakeel RA,Kerr RE

    更新日期:1989-01-01 00:00:00