Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Abstract:

:Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.

journal_name

Clin Exp Dermatol

authors

Giacaman A,Bauzá Alonso A,Salinas Sanz JA,Dapena Díaz JL,Ramos Asensio R,Ferrés Ramis L,Durán Pastor MA,Martín-Santiago A

doi

10.1111/ced.13668

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

913-916

issue

8

eissn

0307-6938

issn

1365-2230

journal_volume

43

pub_type

杂志文章
  • 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

    doi:10.1111/j.1365-2230.1996.tb00062.x

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

    更新日期:1996-05-01 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

  • 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

    doi:10.1111/j.1365-2230.1993.tb02211.x

    authors: Herd RM,McLaren KM,Aldridge RD

    更新日期:1993-07-01 00:00:00

  • Chemotherapy-induced scleroderma: a pleiomorphic syndrome.

    abstract::A scleroderma-like disease has recently been described in association with taxanes. We present the first case of diffuse scleroderma occurring in a woman treated with doxorubicin and cyclophosphamide for breast cancer. The clinical pattern of skin involvement and histological alterations were identical to those found ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.2004.01668.x

    authors: Alexandrescu DT,Bhagwati NS,Wiernik PH

    更新日期:2005-03-01 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

  • 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

    doi:10.1111/ced.12438

    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

  • Improvement of trigeminal neurotrophic ulceration with pimozide in a cognitively impaired elderly woman--a case report.

    abstract::Neurotrophic ulceration of the face is a rare but well recognized sequel to division of the trigeminal nerve. Trauma is an important contributory factor and thought to be due in part to paraesthesiae, which encourages picking and scratching, with resultant chronic and persistent ulceration. A case is described of an 8...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1993.tb01007.x

    authors: Mayer RD,Smith NP

    更新日期:1993-03-01 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

    doi:10.1111/j.1365-2230.2008.02743.x

    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

  • Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors.

    abstract::The precursor protein proopiomelanocortin (POMC) produces many biologically active peptides via a series of enzymatic steps in a tissue-specific manner, yielding the melanocyte-stimulating hormones (MSHs), corticotrophin (ACTH) and beta-endorphin. The gene for alpha-MSH is encoded for by the POMC gene, but alpha-MSH c...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.2006.02128.x

    authors: Millington GW

    更新日期:2006-05-01 00:00:00

  • Laser therapy of telangiectatic leg veins: clinical evaluation of the 810 nm diode laser.

    abstract::Telangiectatic leg veins (TLV) are experienced by millions of women and men. As they cause significant cosmetic embarrassment, many women seek effective treatment. Options include sclerotherapy and treatment with different lasers. We investigated the safety and efficacy of an 810-nm diode laser in the treatment of TLV...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2000.00679.x

    authors: Varma S,Lanigan SW

    更新日期:2000-07-01 00:00:00

  • CTLA-4 gene 49A/G polymorphism in Turkish patients with Behçet's disease.

    abstract::Genetic factors predisposing individuals to Behçet's disease (BD) are considered to play important roles in the development of the disease. Patients with BD exhibit elevated levels of pro-inflammatory cytokines, and affected organs show a significant neutrophil and lymphocyte infiltration. Current evidence suggests th...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.01846.x

    authors: Sallakci N,Bacanli A,Coskun M,Yavuzer U,Alpsoy E,Yegin O

    更新日期:2005-09-01 00:00:00

  • Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3.

    abstract::Paraneoplastic pemphigus (PNP) is an autoimmune blistering disease associated with neoplasms, typically lymphoproliferative disorders. PNP is characterized clinically by painful erosive stomatitis and polymorphous skin lesions. Histopathological findings are also very varied, and include lichen planus-like and pemphig...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12296

    authors: Gallo E,García-Martín P,Fraga J,Teye K,Koga H,Hashimoto T,García-Diez A

    更新日期:2014-04-01 00:00:00

  • Intravenous immunoglobulin treatment in laryngeal pemphigoid.

    abstract::We report a 29-year-old white woman who presented with oral involvement and subsequently developed severe and extensive laryngeal involvement with mucous membrane pemphigoid. She could not tolerate systemic corticosteroids due to side-effects. Dapsone improved only the oral disease, but the laryngeal disease remained ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2008.03033.x

    authors: Gürcan HM,Ahmed AR

    更新日期:2009-12-01 00:00:00

  • Spiradenoma causing longitudinal splitting of the nail.

    abstract::Longitudinal splitting of the nails can occur as a result of any growth arising in the nail matrix. We present a case of a 50-year-old woman who presented with an 18-month history of longitudinal splitting of the nail on her right little finger, along with pain in the proximal nail fold region, which was extremely ten...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12886

    authors: Jha AK,Sinha R,Kumar A,Bhadani P,Kumar S

    更新日期:2016-10-01 00:00:00

  • Mucocutaneous adverse effects of hydroxyurea: a prospective study of 30 psoriasis patients.

    abstract::Hydroxyurea is an anti-tumour agent most commonly used to treat chronic myeloproliferative disorders in doses up to 4 g per day. Dermatological adverse effects reported so far have been observed predominantly in these patients. As we are treating selected psoriasis patients with low dose hydroxyurea we attempted to de...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.0307-6938.2001.00947.x

    authors: Kumar B,Saraswat A,Kaur I

    更新日期:2002-01-01 00:00:00

  • Efficacy of topical corticosteroids in nickel-induced contact allergy.

    abstract::In this study we used the nickel contact allergy patch (CAP) test to investigate the effect of topical corticosteroids on allergic contact dermatitis (ACD). On day 1, three CAP tests were applied for 48 h on the forearms of 20 female volunteers with a known nickel ACD. CAP of the right forearm contained 5% nickel, and...

    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.0307-6938.2001.00963.x

    authors: Hachem JP,De Paepe K,Vanpée E,Bogaerts M,Kaufman L,Rogiers V,Roseeuw D

    更新日期:2002-01-01 00:00:00

  • Evaluation of the 2-mm punch biopsy in dermatological diagnosis.

    abstract::This prospective study was undertaken to determine whether the 2-mm punch biopsy technique yields specimens of sufficient size and quality to allow a reliable histological diagnosis to be made. A histopathological comparison was made between tissue obtained from a 2-mm punch biopsy and a standard ellipse biopsy taken ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Todd P,Garioch JJ,Humphreys S,Seywright M,Thomson J,du Vivier AW

    更新日期:1996-01-01 00:00:00

  • Malignant melanoma in Chile: an unusual distribution of primary sites in men from low socioeconomic strata.

    abstract:BACKGROUND:Mortality from malignant melanoma (MM) has increased in Chile in the past decade. The location of MM lesions on the body has been correlated with prognosis and survival. AIM:To review body site and gender relationships with histopathologically confirmed primary MM in Chile. METHODS:Records of 575 cases pre...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.02038.x

    authors: Zemelman V,Roa J,Tagle SR,Valenzuela CY

    更新日期:2006-05-01 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

  • The relationship of psoriasis to malignancy: a clinical report.

    abstract::A large variety of cutaneous reactions to malignancy have been described but to our knowledge none include psoriasis. Two cases of psoriasiform reactions in association with malignancy were first documented by Braverman, and Bazex's syndrome is now well documented in the literature. Both conditions, although clinicall...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1993.tb00964.x

    authors: Hughes BR,Cotterill JA

    更新日期:1993-01-01 00:00:00

  • Interferon-alpha therapy for melanoma.

    abstract::Although surgery may be curative in early malignant melanoma, its effect on survival lessens with each succeeding stage of the disease. A wide variety of immunological strategies have therefore been used to improve the prognosis of patients with malignant melanoma, but adjuvant therapy with interferon (IFN)-alpha is t...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2230.2000.00559.x

    authors: Russell-Jones R

    更新日期:2000-01-01 00:00:00

  • Amyophatic dermatomyositis presenting as a flagellated skin eruption with positive MDA5 antibodies and thyroid cancer: a real association?

    abstract::Amyopathic dermatomyositis (ADM) is characterized clinically by typical skin lesions with hypomyopathy or no muscular involvement. ADM has been recently reported to be complicated by rapidly progressive interstitial lung disease (ILD), especially in patients with positive antibodies against melanoma differentiation-as...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12674

    authors: Molina-Ruiz AM,Romero F,Carrasco L,Feltes F,Haro R,Requena L

    更新日期:2015-12-01 00:00:00

  • Co-existing sensitivity to metronidazole and isothiazolinone.

    abstract::A 68-year-old woman developed allergic contact dermatitis to topical metronidazole gel as proven by positive patch tests to the gel and to metronidazole. She was also allergic to methylchloroisothiazolinone and methylisothiazolinone (MC/MI). The similarity between the two molecules and the fact that the patient reacte...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2003.01364.x

    authors: Wolf R,Orion E,Matz H

    更新日期:2003-09-01 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

  • The Neil Smith Memorial Lecture: John Laws Milton. The Founder of St John's Hospital for Diseases of the Skin.

    abstract::John Laws Milton, a 19th-Century surgeon, founded the St John's Hospital for Diseases of the Skin close to Leicester Square in London in 1863. This article reviews his single-minded effort to establish dermatology as a medical subspeciality and to create a proper skin diseases hospital. The review also details his man...

    journal_title:Clinical and experimental dermatology

    pub_type: 传,历史文章

    doi:10.1046/j.1365-2230.2003.01178.x

    authors: Black MM

    更新日期:2003-01-01 00:00:00

  • Localized papular cutaneous schistosomiasis: two cases in travellers.

    abstract::Schistosomiasis is endemic in many parts of the tropics and subtropics with an estimated 200 million people, at least, infected worldwide. The symptoms and signs of vesical and gastrointestinal forms are readily recognized but ectopic forms are rare even in endemic areas and present a greater diagnostic challenge, par...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2001.00761.x

    authors: Leman JA,Small G,Wilks D,Tidman MJ

    更新日期:2001-01-01 00:00:00

  • Depigmentation therapy in vitiligo universalis with cryotherapy and 4-hydroxyanisole.

    abstract::Vitiligo is a disease characterized by the loss of melanocytes, resulting in progressive depigmentation of skin, and areas of normally pigmented skin can be of cosmetic concern. Several options have been tried to remove the pigment and make the skin a more even colour. We present an easy and effective therapeutic proc...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03412.x

    authors: Di Nuzzo S,Masotti A

    更新日期:2010-03-01 00:00:00

  • Which children should we patch test?

    abstract:BACKGROUND:Allergic contact dermatitis (ACD) in childhood was considered rare until recently. However, reports are increasing, which may reflect an increased incidence and/or more frequent patch testing of children. It is also likely that allergen exposure in children has changed with time. AIMS:To determine the most ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2006.02232.x

    authors: Beattie PE,Green C,Lowe G,Lewis-Jones MS

    更新日期:2007-01-01 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

  • Giant combined dermatofibroma with satellitosis.

    abstract::An unusual giant combined dermatofibroma is reported in a 34-year-old man who presented with skin-coloured swellings on the medial aspect of the left scapula. The plaque was well defined, reddish-brown and 25-30 cm in diameter. It was also tender and indurated. Several similar smaller lesions (satellites) were present...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2004.01457.x

    authors: Sehgal VN,Sardana K,Khandpur S,Sharma S,Majumdar S,Aggarwal AK

    更新日期:2004-03-01 00:00:00