De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.

Abstract:

:Rapp-Hodgkin syndrome (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/cleft palate. Very recently, mutations in p63 have been identified as a cause of RHS; to date five such mutations have been identified. We describe a Thai girl with RHS. She had short stature, ectodermal dysplasia, epiphora, cleft lip, cleft palate, and normal development. Mutation analysis for the entire coding region of p63 identified a novel and de novo mutation, 1622C--> A (S541Y), in the SAM domain, predicting an abnormal alpha tail of the p63alpha protein isotypes. This observation supports that majority of patients with RHS are caused by mutations affecting the tail of p63alpha, a region that also contains most of the pathogenic mutations in ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.

journal_name

Clin Exp Dermatol

authors

Shotelersuk V,Janklat S,Siriwan P,Tongkobpetch S

doi

10.1111/j.1365-2230.2005.01722.x

keywords:

subject

Has Abstract

pub_date

2005-05-01 00:00:00

pages

282-5

issue

3

eissn

0307-6938

issn

1365-2230

pii

CED1722

journal_volume

30

pub_type

杂志文章
  • 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

    doi:10.1111/j.1365-2230.2009.03374.x

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

    更新日期:2009-12-01 00:00:00

  • Giant nerve abscesses in leprosy.

    abstract::Two leprosy patients with neuritis caused by giant abscesses involving almost the entire ulnar nerve are described. One patient, who also had skin lesions, was diagnosed histopathologically as having borderline tuberculoid leprosy both on skin and nerve biopsy, and the other, with only nerve involvement, belonged to t...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1990.tb02110.x

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

    更新日期:1990-09-01 00:00:00

  • Algodystrophy (reflex sympathetic dystrophy) complicating unilateral acrodermatitis continua.

    abstract::A 65-year-old female suffered trauma to her left hand on which acrodermatitis continua (psoriasis of Hallopeau) developed. It is suggested that the persistent pain of this skin condition, its poor response to treatment and her allied mental state led to the development of a severe algodystrophy with marked underlying ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1989.tb02609.x

    authors: Stephens CJ,McGibbon DH

    更新日期:1989-11-01 00:00:00

  • Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

    abstract::Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may develop the rare type II papill...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2004.01675.x

    authors: Chan I,Wong T,Martinez-Mir A,Christiano AM,McGrath JA

    更新日期:2005-01-01 00:00:00

  • Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives.

    abstract::A retrospective case series of 53 female patients with incontinentia pigmenti (IP) including 28 secondary cases (female relatives of probands) was reviewed and compared with other series in an attempt to estimate more accurately the true disease burden of patients with IP. We found that, while the frequency of the fir...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.01848.x

    authors: Phan TA,Wargon O,Turner AM

    更新日期:2005-09-01 00:00:00

  • Calcineurin inhibitors and sirolimus: mechanisms of action and applications in dermatology.

    abstract::Controlled trials and clinical experience indicate that systemic cyclosporin A and tacrolimus are effective treatments for psoriasis, and that cyclosporin A also improves atopic eczema. A variety of other inflammatory and non-inflammatory skin diseases are probably also responsive to these drugs. However, the widespre...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2230.2002.01148.x

    authors: Reynolds NJ,Al-Daraji WI

    更新日期:2002-10-01 00:00:00

  • Persistent erythema multiforme associated with Epstein-Barr virus infection.

    abstract::Erythema multiforme (EM) is a common, self-limiting condition. Recurrent EM is a well-recognised variant, often associated with herpes simplex virus infection. It is frequently managed with prophylactic aciclovir. Anecdotal reports suggest that recurrent EM may be associated with the use of corticosteroids. Persistent...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12243

    authors: Turnbull N,Hawkins D,Atkins M,Francis N,Roberts N

    更新日期:2014-03-01 00:00:00

  • The use of silicone gel in the treatment of fresh surgical scars: a randomized study.

    abstract:AIM:To evaluate the effectiveness of a silicone gel in treating surgical wounds compared with a control group of the same phenotype and same scar site for which a placebo was advised. METHODS:This was a randomized controlled trial, carried out in a dermatology department of a university hospital. In total, we studied ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1365-2230.2008.03096.x

    authors: de Giorgi V,Sestini S,Mannone F,Papi F,Alfaioli B,Gori A,Lotti T

    更新日期:2009-08-01 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

    doi:10.1111/j.1365-2230.2005.01795.x

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

    更新日期:2005-07-01 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

    doi:10.1111/ced.12867

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

    更新日期:2016-08-01 00:00:00

  • Co-existent primary cutaneous anaplastic large cell lymphoma and lymphomatoid papulosis.

    abstract::We describe the case of a 37-year-old female with a history of psoriasiform dermatitis who presented with multicentric primary cutaneous CD30-positive anaplastic large T cell lymphoma (ALCL). Despite aggressive systemic therapy, the patient suffered multiple relapses and the lymphoma spread to cervical and inguinal ly...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2230.2003.01406.x

    authors: Dawn G,Morrison A,Morton R,Bilsland D,Jackson R

    更新日期:2003-11-01 00:00:00

  • Leucoderma after use of a skin-lightening cream containing kojic dipalmitate, liquorice root extract and Mitracarpus scaber extract.

    abstract::A lighter or whiter complexion is socially desirable in many cultures. This has led to an unregulated and highly profitable market in skin-lightening creams that are readily available over the counter or on the internet. Plant extracts and newer tyrosinase inhibitors such as kojic acid or its derivative kojic dipalmit...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03690.x

    authors: Madhogaria S,Ahmed I

    更新日期:2010-06-01 00:00:00

  • Serum triamcinolone levels during intensive, inpatient wet-dressing therapy.

    abstract:BACKGROUND:Wet dressings combined with topical corticosteroids are beneficial for patients with generalized and refractory dermatosis; however, to our knowledge, serum levels after topical corticosteroid absorption during intensive therapy have not been reported previously. AIM:To examine serum levels of triamcinolone...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14161

    authors: Mirza SA,Wentworth AB,Harvey JA,Bridges AG,Camilleri MJ,El-Azhary RA,McEvoy MT,Sartori Valinotti JC,Wetter DA,Davis MDP

    更新日期:2020-07-01 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

  • The finger-tip unit--a new practical measure.

    abstract::A finger-tip unit (FTU) is the amount of ointment expressed from a tube with a 5 mm diameter nozzle, applied from the distal skin-crease to the tip of the index finger. Thirty adult-patients treated various anatomical regions using FTU's of ointment. The number of FTU's required was: face and neck 2.5 (s.d. +/- 0.8); ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1991.tb01232.x

    authors: Long CC,Finlay AY

    更新日期:1991-11-01 00:00:00

  • A clinical evaluation of acne scarring and its incidence.

    abstract::Despite scarring being a recognized sequel of acne, the actual extent and incidence of residual scarring remains unknown. One hundred and eighty-five acne patients were included in this study (101 females, 84 males). Patients were selected from acne clinics and their acne scarring was examined. The scarring was quanti...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1994.tb01200.x

    authors: Layton AM,Henderson CA,Cunliffe WJ

    更新日期:1994-07-01 00:00:00

  • A family with pachyonychia congenita affecting the nails only.

    abstract::A family with pachyonychia congenita in which affected individuals showed nail involvement only is described. Pachyonychia congenita is a rare hereditary disorder inherited in an autosomal dominant manner. Various classifications of pachyonychia congenita have been suggested but none indicates nail involvement as a so...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1994.tb01263.x

    authors: Pryce DW,Verbov JL

    更新日期:1994-11-01 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

    doi:10.1111/ced.13084

    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

  • Role of sulphydryl-containing agents in the management of venous (varicose) ulceration. A new approach.

    abstract::This randomized double-blind controlled study examined whether sulphydryl-containing agents influence the healing of venous ulceration occurring for the first time on the medial side of the leg. Graduated compression bandaging, which exerted a mean ankle pressure of 40.6 +/- 0.4 mmHg, and a mean below-knee pressure of...

    journal_title:Clinical and experimental dermatology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2230.1992.tb00252.x

    authors: Salim AS

    更新日期:1992-11-01 00:00:00

  • Influence of food on the pharmacokinetics of oral alitretinoin (9-cis retinoic acid).

    abstract:BACKGROUND:Previous studies have shown that concomitant administration of food may enhance the bioavailability of oral retinoids. AIM:To assess the influence of food on the pharmacokinetics (PK) of alitretinoin after a single oral dose. METHODS:This was a single-dose, open-label, randomized, crossover study, which en...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1365-2230.2011.04033.x

    authors: Schmitt-Hoffmann AH,Roos B,Sauer J,Schleimer M,Kovācs P,Stoeckel K,Maares J

    更新日期:2011-04-01 00:00:00

  • Narrow-band UVB for the treatment of generalized vitiligo in children.

    abstract::Vitiligo usually begins in childhood with approximately half of the patients manifesting onset of disease prior to the age of 20 years. Treatment options in this age group are few and have disappointing response rates. This study was designed to evaluate the role of narrow-band UVB in the treatment of generalized viti...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2005.01837.x

    authors: Kanwar AJ,Dogra S

    更新日期:2005-07-01 00:00:00

  • Rituximab in refractory autoimmune bullous diseases.

    abstract::Treatment of autoimmune blistering diseases consists of systemic glucocorticosteroids usually in combination with additional immunosuppressants such as azathioprine and mycophenolate mofetil or immunomodulators such as dapsone, antibiotics, intravenous immunoglobulins, and immunoadsorption. In some patients, these tre...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2230.2006.02151.x

    authors: Schmidt E,Hunzelmann N,Zillikens D,Bröcker EB,Goebeler M

    更新日期:2006-07-01 00:00:00

  • False-negative rate of intraoperative frozen section margin analysis for complex head and neck nonmelanoma skin cancer excisions.

    abstract:INTRODUCTION:Intraoperative frozen section analysis (IFSA) is traditionally performed for complex and high-risk non-melanoma skin cancer (NMSC) resections, particularly when surgery under a general anaesthetic and a complex reconstruction is required, and where Mohs micrographic surgery (MMS) is not available. METHODS...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12743

    authors: Moncrieff MD,Shah AK,Igali L,Garioch JJ

    更新日期:2015-12-01 00:00:00

  • Disaccharide analysis of the skin glycosaminoglycans in patients with Werner's syndrome.

    abstract::The disaccharide content of the chondroitinase-digestible glycosaminoglycans (GAGs) extracted from 6-mm skin punch biopsies from the atrophic and sclerotic skin of two patients with Werner's syndrome (WS) were determined using high-performance liquid chromatography after 1-phenyl-3-methyl-5-pyrazolone labelling. The t...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1994.tb01253.x

    authors: Higuchi T,Ishikawa O,Hayashi H,Ohnishi K,Miyachi Y

    更新日期:1994-11-01 00:00:00

  • Topical tretinoin: a new treatment for black hairy tongue (lingua villosa nigra).

    abstract::Black hairy tongue is the name given to the appearance of an abnormal coating of the tongue and occurs only in adults. It is the result of hyperkeratosis of the filiform lingual papillae which, on gross examination appear hair-like with a variable tinctorial aspect from yellow-brown to black. The pathogenesis is unkno...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1992.tb00195.x

    authors: Langtry JA,Carr MM,Steele MC,Ive FA

    更新日期:1992-05-01 00:00:00

  • Pseudoacromegalic facial features in Fabry disease.

    abstract::Although Fabry disease (FD) is an X-linked lysosomal storage disorder, there is a high prevalence of affected heterozygous females who show symptoms and have an increased mortality associated with the disease. FD usually progresses slowly, and death can result from stroke, heart disease or renal failure. Diagnosis can...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2012.04420.x

    authors: Hogarth V,Hughes D,Orteu CH

    更新日期:2013-03-01 00:00:00

  • miR-18a expression in basal cell carcinoma and regulatory mechanism on autophagy through mTOR pathway.

    abstract:BACKGROUND:Basal cell carcinoma (BCC) is the most common form of skin carcinoma. AIM:To investigate the function of key micro(mi)RNAs and to explore the potential molecular mechanisms involved in BCC. METHODS:The microarray dataset GSE34535, which comprises seven BCC samples and seven control samples, was downloaded ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.14322

    authors: Mi X,Lai K,Yan L,Xie S,Qiu X,Xiao S,Wei S

    更新日期:2020-12-01 00:00:00

  • The bare:ensheathed anagen root ratio as a function of the speed of epilation.

    abstract::Small tufts of chest hair were epilated at different rates and the roots classified as to growth phase, presence or absence of root sheaths and whether the shafts were fractured. With respect to anagen roots, a slow epilation gives bare roots whereas an increase in the rate of epilation increases the proportion of ens...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1992.tb00173.x

    authors: Chapman DM

    更新日期:1992-03-01 00:00:00

  • Predictors of patient satisfaction with initial diagnosis and management of malignant melanoma.

    abstract:BACKGROUND:Malignant melanoma (MM), accounts for around 10% of skin cancers. To date, there have been few data on patient satisfaction with initial management of MM. OBJECTIVE:To identify the predictors of patient satisfaction with initial diagnosis and management of MM. METHODS:Data on 214 patients were collected us...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03639.x

    authors: Sheth N,Sarker SJ,Harries M,Healy C,Russell-Jones R,Acland K

    更新日期:2010-08-01 00:00:00

  • Mycosis fungoides with spontaneously regressing CD30-positive tumorous lesions.

    abstract::Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. We report a case in which identical T-cell clones were identified in both patch and tumour stage lesions and in which the tumorous deposits, containing CD30-positive cells, regressed spontaneously. We discuss the differential diagnosis of the tumorou...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:

    authors: Woodrow SL,Basarab T,Russell Jones R

    更新日期:1996-09-01 00:00:00