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


: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.


Clin Exp Dermatol


Yang Z,Xu Z,Zhang N,Ma L




Has Abstract


2020-08-01 00:00:00












  • Use of a novel autologous cell-harvesting device to promote epithelialization and enhance appropriate pigmentation in scar reconstruction.

    abstract:BACKGROUND:Epidermal replacement is an important step in the management of patients with post-traumatic and iatrogenic scars. Skin-colour variation from disease or trauma causes significant changes in self-image and appearance. AIM:The aim of our study was to analyse the results obtained with a novel autologous cell-h...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Cervelli V,De Angelis B,Spallone D,Lucarini L,Arpino A,Balzani A

    更新日期:2010-10-01 00:00:00

  • Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association.

    abstract::It is well known that primary systemic amyloidosis [light chain (AL) amyloidosis] is associated with hidden dyscrasia or multiple myeloma. Acquired cutis laxa (cutis laxa acquisita; CLA) has also been described in patients with plasma cell dyscrasias, including multiple myeloma. We report a case in which haemorrhagic ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Gonzalez-Ramos J,Garrido-Gutiérrez C,González-Silva Y,Yébenes-Gregorio L,Beato-Merino M,Vidaurrázaga-Arcaya C,Herranz-Pinto P

    更新日期:2017-06-01 00:00:00

  • Acquired dermal melanocytosis of the face and extremities.

    abstract::Acquired dermal melanocytosis (ADM) is a relatively rare, but well-described disease among adolescent to middle-aged East Asian women, particularly those of Japanese and Chinese descent. Clinically, ADM manifests as multiple punctate and greyish-brown pigmented areas 1-3 mm in diameter occurring on both sides of the f...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Ouchi T,Ishii K,Nishikawa T,Ishiko A

    更新日期:2016-08-01 00:00:00

  • Multiple dermatofibromata developing during pregnancy.

    abstract::Dermatofibromata are common benign dermal tumours of unknown aetiology. They usually present as a single lesion on the limbs of young adults. Multiple dermatofibromata have been reported occurring in patients with autoimmune disease, who were receiving immunosuppressive treatment. A 25-year-old female is reported who ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Stainforth J,Goodfield MJ

    更新日期:1994-01-01 00:00:00

  • Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

    abstract::Xanthomas are important clinical manifestations of disordered lipid metabolism, which are mostly found in patients with familial hypercholesterolaemia (FH), an inherited disorder that is predominantly caused by mutations in the low-density lipoprotein receptor gene (LDLR). Tuberous and tendinous xanthomas with wide di...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Kong MX,Zhang Q,Cao L,Zhao C,Ru GQ,Bi Q

    更新日期:2015-10-01 00:00:00

  • Multiple warty dyskeratomas of the scalp.

    abstract::Two patients presented with the unusual condition of multiple warty dyskeratomas on the scalp. Biopsies of affected skin stained positive with human keratin monoclonal antibodies HKN-6 and -7, specific for cortex and inner root sheath of normal human hair, respectively. Multiple warty dyskeratomas are a rare occurrenc...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Griffiths TW,Hashimoto K,Sharata HH,Ellis CN

    更新日期:1997-07-01 00:00:00

  • Disseminated Kaposi's sarcoma associated with idiopathic CD4+ lymphocytopenia and low dose steroid therapy.

    abstract::A case of disseminated Kaposi sarcoma in a 76-year-old woman treated with low-dose steroids for a seronegative polyarthritis is described. HIV serology was negative, whereas PCR for HHV-8 was positive. The patient presented with a profound reduction in the peripheral blood CD4+ cell count and a decrease in serum immun...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Fierro MT,Savoia P,Quaglino P,Novero D,Bernengo MG

    更新日期:2005-07-01 00:00:00

  • Extensive naevus comedonicus in a child with Alagille syndrome.

    abstract::Naevus comedonicus is a rare condition, thought to be a hamartoma in which cells of the pilosebaceous unit fail to develop appropriately. Although it is usually an isolated phenomenon, it has been associated with other defects, including those of the skeletal, ocular and central nervous system. A girl with this condit...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Woods KA,Larcher VF,Harper JI

    更新日期:1994-03-01 00:00:00

  • A 20-year epidemiological study of cutaneous melanoma in the Rijeka district of Croatia.

    abstract::A retrospective study was made of the incidence of cutaneous melanoma among the population of the district of Rijeka (Croatia) during the period 1977-96. A total of 397 patients with cutaneous melanoma was documented during this period. Over the 20-year period the incidence of the tumour increased, the mean annual rat...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Zamolo G,Gruber F,Jonjić A,Cabrijan L,Palle M,Grubisić-Greblo H

    更新日期:2000-01-01 00:00:00

  • Conjunctival impression cytology, ocular surface and tear-film changes in patients with lichen planus.

    abstract:BACKGROUND:Lichen planus (LP) is an immune-mediated chronic mucocutaneous disease. Rarely, LP affects the conjunctiva, resulting in conjunctival inflammation, cicatrization and scarring of the subepithelium and cornea, causing keratitis and keratoconjunctivitis sicca. To date, there has been no case-control study exami...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Şanli B,Çetin EN,Bir F,Taşli L,Yaldizkaya F,Yaylali V

    更新日期:2012-06-01 00:00:00

  • Cutaneous lesions in a case of acute megakaryoblastic leukaemia.

    abstract::We describe the case of a 68-year-old woman who presented with asymptomatic skin nodules and symptoms of anaemia, and was found to have acute megakaryoblastic leukaemia with fibrosis, a condition now believed to correspond to the former diagnosis of acute myelofibrosis. There is only one previous report of skin lesion...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Macfarlane AW,Parry DH,Caslin AW,Hughes M

    更新日期:1996-05-01 00:00:00

  • Effectiveness of omalizumab in a case of urticarial vasculitis.

    abstract::Urticarial vasculitis (UV) is a mainly leucocytoclastic vasculitis with urticarial plaques. Treating these patients is challenging as the available treatments have poor efficacy. Oral corticosteroids are considered the first-line treatment, but H1 antihistamines, dapsone, colchicine, antimalarials, ciclosporin and ant...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Fueyo-Casado A,Campos-Muñoz L,González-Guerra E,Pedraz-Muñoz J,Cortés-Toro JA,López-Bran E

    更新日期:2017-06-01 00:00:00

  • Antigen identification using skin deficient in basement-membrane protein: a novel tool for the diagnosis of subepidermal immunobullous diseases.

    abstract::Common unifying features of the subepidermal blistering diseases are the presence of tense blisters clinically and demonstration by immunofluorescence of linear deposition of immunoreactants along the dermoepidermal junction. Further characterization of subtype is possible by identification of the target antigen by im...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审


    authors: Rao R,Bhogal B,Groves R

    更新日期:2013-04-01 00:00:00

  • Linear lichen planus and lichen striatus--opposite ends of a spectrum.

    abstract::The linear pattern of lichen planus (LP) is extremely rare. In six publications 1256 patients with LP have been reviewed and only three cases of linear LP (LLP) are reported. The differential diagnosis of LLP includes a number of linear dermatoses in particular lichen striatus (LS) and the extent of overlap between th...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Herd RM,McLaren KM,Aldridge RD

    更新日期:1993-07-01 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


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

    更新日期:2015-08-01 00:00:00

  • Comparative efficacy of drug regimens in skin tuberculosis.

    abstract::Three antituberculous drug regimens have been employed to study the therapeutic response in 90 patients with any one of the commonly encountered paucibacillary forms of skin tuberculosis, namely lupus vulgaris, tuberculosis verrucosa cutis and scrofuloderma. The first two regimens contained rifampicin, isoniazid and e...

    journal_title:Clinical and experimental dermatology

    pub_type: 临床试验,杂志文章


    authors: Ramesh V,Misra RS,Saxena U,Mukherjee A

    更新日期:1991-03-01 00:00:00

  • Solar urticaria successfully treated with intravenous immunoglobulin.

    abstract::Idiopathic solar urticaria (SU) is a rare, debilitating photodermatosis, which may be difficult to treat. First-line treatment with antihistamines is effective in mild cases, but remission after phototherapeutic induction of tolerance is often short-lived. Other treatment options include plasma exchange, photopheresis...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Hughes R,Cusack C,Murphy GM,Kirby B

    更新日期:2009-12-01 00:00:00

  • Usefulness of the AMeX method for immunostaining with antikeratin antibodies.

    abstract::We performed an immunohistochemical study with 11 antikeratin antibodies using the newly developed AMeX (acetone-methylbenzoate-xylene) tissue processing method. Specimens processed with this method showed almost as good preservation and morphological detail as routinely processed, formalin-fixed and paraffin-embedded...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Ansai SI,Koseki S,Hozumi Y,Kondo S

    更新日期:1994-11-01 00:00:00

  • The A/A genotype of an interleukin-17A polymorphism predisposes to increased severity of atopic dermatitis and coexistence with asthma.

    abstract:INTRODUCTION:Studies have found that the interleukin-23/T helper 17 (IL-23/Th17) pathway plays an important role in the pathogenesis of atopic dermatitis (AD). Inhibition of the IL-23/Th17 pathway with monoclonal antibodies reduces skin inflammation in animal models. AIM:To investigate the association between IL-17A a...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Narbutt J,Wojtczak M,Zalińska A,Salinski A,Przybylowska-Sygut K,Kuna P,Majak P,Sysa-Jedrzejowska A,Lesiak A

    更新日期:2015-01-01 00:00:00

  • Acneiform follicular mucinosis.

    abstract::Follicular mucinosis is a rare chronic inflammatory disease of unknown aetiology, presenting as mucin deposits around the follicles and sebaceous glands. It can progress to alopecia of the scalp and other hairy areas. Follicular mucinosis may be a benign primary idiopathic disorder or secondary to malignant lymphoprol...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Passaro EM,Silveira MT,Valente NY

    更新日期:2004-07-01 00:00:00

  • Secondary localized cutaneous amyloid in Bowen's disease.

    abstract::A case of Bowen's disease is described in which striking quantities of amyloid were detected in the papillary dermis visualized easily by routine haematoxylin and eosin staining. The material showed positive labelling with an antikeratin monoclonal antibody consistent with the proposed origin of the amyloid as degener...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Speight EL,Milne DS,Lawrence CM

    更新日期:1993-05-01 00:00:00

  • Actinic keratoses arising only on sun-exposed vitiligo skin.

    abstract::A 71-year-old woman with vitiligo developed multiple actinic keratoses only on the vitiligo skin of sun-exposed areas. She had worked outdoors as a farmer for a long period. Although actinic skin cancers arising on vitiligo skin have rarely been reported, the present case demonstrates that vitiligo skin is more suscep...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Yashiro K,Nakagawa T,Takaiwa T,Inai M

    更新日期:1999-05-01 00:00:00

  • Circulating T-helper 17 cells and associated cytokines in psoriasis.

    abstract:BACKGROUND:Recently, a new population of IL-17-producing CD4 T helper (Th) cells, named Th17, was identified and shown to be involved in various inflammatory and autoimmune diseases, including psoriasis. AIM:To determine the frequency of Th17 cells and related cytokines in peripheral blood of patients with psoriasis, ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Chhabra S,Narang T,Joshi N,Goel S,Sawatkar G,Saikia B,Dogra S,Bansal F,Minz R

    更新日期:2016-10-01 00:00:00

  • Dermanyssus gallinae (chicken mite): an underdiagnosed environmental infestation.

    abstract::Dermanyssus gallinae is a mite that normally parasitizes small birds but may occasionally bite humans. We report an unusual case of an 82-year-old woman who presented with pruritus and bite-like lesions over her trunk. Other members of the household were also affected. On physical examination, mites < 1 mm in size wer...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Collgros H,Iglesias-Sancho M,Aldunce MJ,Expósito-Serrano V,Fischer C,Lamas N,Umbert-Millet P

    更新日期:2013-06-01 00:00:00

  • Immune reconstitution inflammatory syndrome involving the skin.

    abstract:BACKGROUND:Immune reconstitution inflammatory syndrome (IRIS) occurs in 10-25% of unselected patients starting highly active antiretroviral therapy (HAART). About 52-78% of these cases involve cutaneous features. AIM:To describe the prevalence and incidence of new dermatological conditions within 6 months of patients ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Osei-Sekyere B,Karstaedt AS

    更新日期:2010-07-01 00:00:00

  • Does EMLA reduce the discomfort associated with local-anaesthetic infiltration?

    abstract::The effectiveness of EMLA cream in relieving the discomfort associated with percutaneous infiltration of lignocaine was assessed in a double-blind, placebo-controlled study. Patients undergoing minor skin surgery were divided into two groups, according to the number of lesions requiring surgery. The first group had a ...

    journal_title:Clinical and experimental dermatology

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Jones SK,Handfield-Jones S,Kennedy CT

    更新日期:1990-05-01 00:00:00

  • Pityriasis rotunda as an incidental paraneoplastic finding in two patients with multiple myeloma.

    abstract::Pityriasis rotunda (PR) is an uncommon chronic dermatosis, which may be idiopathic or may be associated with infections or malignancy. We describe the clinical and biochemical findings of two patients with multiple myeloma, who were incidentally diagnosed with PR, and detail the clinical conditions with which this rar...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: van Heerden T,Webb MJ,Barrett CL

    更新日期:2014-08-01 00:00:00

  • Kaposi's varicelliform eruption in a patient with healing second degree burns.

    abstract::A 15-year-old boy with Kaposi's varicelliform eruption complicating healing second degree burns is reported. Clinically, umbilicated vesicles and pustules evolving to extensive erosions appeared over previously burned areas, sparing normal skin. Rapid diagnosis was made on the basis of the presence of multinucleate gi...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审


    authors: Bartralot R,García-Patos V,Rodríguez-Cano L,Castells A

    更新日期:1996-03-01 00:00:00

  • Neonatal lupus erythematosus.

    abstract::We present a case of neonatal lupus erythematosus (NLE) in a black infant presenting with symmetrical depigmented macules on the face resembling vitiligo. NLE is a rare condition affecting newborn infants of mothers who have connective tissue disease, with or without autoantibodies to extractable nuclear antigens Ro (...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Jenkins RE,Kurwa AR,Atherton DJ,Black MM

    更新日期:1994-09-01 00:00:00

  • Circulating levels of mannan-binding lectin (MBL) and MBL-associated serine protease 2 in endemic pemphigus foliaceus.

    abstract::Endemic pemphigus foliaceus (EPF) is an autoimmune disease, which occurs in Brazil and other regions of South America. Mannose-binding lectin (MBL) and MBL-associated serine protease (MASP-2) play a key role in innate immunity, and its deficiency has been related to increased susceptibility to infection and autoimmune...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章


    authors: Messias-Reason I,Bosco DG,Nisihara RM,Jakobsen LH,Petzl-Erler ML,Jensenius JC

    更新日期:2008-07-01 00:00:00