Abstract:
:Multiple cutaneous and uterine leiomyomata (MCL) is an autosomal dominant disorder characterized by the development of benign smooth muscle tumours (leiomyomas) in the skin and uterus of affected women, and in the skin of affected men. In rare cases, MCL has been associated with a predisposition to the rare type II papillary renal cell cancer, also known as hereditary leiomyomatosis and renal cell cancer. The genetic locus for MCL has been mapped to chromosome 1q42.3-43 and subsequently, germline mutations in the fumarate hydratase (FH) gene have been identified. In addition, analysis of FH in some tumours of MCL patients revealed a second mutation inactivating the wild-type allele, suggesting that FH may function as a tumour suppressor gene. Here, we report two cases of MCL patients with FH mutations, designated as T287P and R190L. T287P represents a novel mutation of a highly conserved amino acid of the FH protein. In addition, a patient with an unusual clinical presentation of MCL was found to have the recurrent mutation, R190L, raising the possibility of incorporating FH sequencing as a diagnostic tool. Our findings extend the allelic series of mutations in FH and support its status as the underlying cause of MCL.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Chuang GS,Martinez-Mir A,Engler DE,Gmyrek RF,Zlotogorski A,Christiano AMdoi
10.1111/j.1365-2230.2005.01977.xkeywords:
subject
Has Abstractpub_date
2006-01-01 00:00:00pages
118-21issue
1eissn
0307-6938issn
1365-2230pii
CED1977journal_volume
31pub_type
杂志文章abstract:BACKGROUND:Both leprosy and human immunodeficiency virus (HIV) are infectious diseases, and are an important global health problem. Patients with leprosy who are co-infected with HIV seem to be at higher risk of developing leprosy reactions. AIM:To examine the histological features of leprosy in patients with HIV and ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12028
更新日期:2013-07-01 00:00:00
abstract::Clear cell acanthoma (CCA) is a benign epidermal tumour with distinctive and uniform clinical and histological features. Although solitary lesions are the rule, some cases of multiple CCA, rarely with more than 10 lesions, have been previously reported. Only 22 cases of multiple CCA have been described in the English ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.1994.tb01179.x
更新日期:1994-05-01 00:00:00
abstract::A 78-year-old Caucasian woman developed Sweet's syndrome which progressed over 3 weeks to pyoderma gangrenosum and subcorneal pustule formation. In spite of treatment the patient died and post-mortem examination revealed cryptogenic cirrhosis which could have explained the spectrum of neutrophilic skin disease observe...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb00375.x
更新日期:1991-07-01 00:00:00
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
更新日期:2009-04-01 00:00:00
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
更新日期:2013-07-01 00:00:00
abstract::We report a case of a 56-year-old woman who presented with a severe exacerbation of psoriasis with concurrent hypoglycaemic episodes. Methotrexate 17.5 mg weekly was required to control her psoriasis. Investigation of her hypoglycaemia showed raised levels of insulin, C-peptide and proinsulin. Radiological investigati...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2007.02578.x
更新日期:2008-03-01 00:00:00
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
更新日期:2013-12-01 00:00:00
abstract::A patient is reported who developed dysplastic naevi at an early age. He also suffered from a syndrome including Wilms' tumour, aniridia, mental retardation and diabetes mellitus in association with an interstitial deletion of the short arm of chromosome 11. It is suggested that genetic factors may be important in spo...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1990.tb02018.x
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Acne vulgaris is a common chronic skin disease. Inflammation is an important pathogenetic mechanism of acne, and NLRP3 polymorphisms have been reported to be involved in the mediation and occurrence of the inflammation. However, only a few studies on NLRP3 and acne have been reported, and the mechanism remai...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13657
更新日期:2019-03-01 00:00:00
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
更新日期:2013-03-01 00:00:00
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
更新日期:2014-06-01 00:00:00
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
更新日期:1990-09-01 00:00:00
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
更新日期:1996-05-01 00:00:00
abstract::Chronic hand eczema (CHE) is a debilitating and distressing disease for patients, the physical symptoms of which are compounded by psychosocial problems. Alitretinoin is an endogenously occurring physiological vitamin A derivative (retinoid) that possesses strong anti-inflammatory and immunomodulatory activity. It is ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2010.04006_1.x
更新日期:2011-03-01 00:00:00
abstract::Acne fulminans is characterized by the sudden onset of a severe, ulcerative acne associated with systemic features. Response to traditional acne therapies is poor. We have recognized a subset of patients with acne of a severity comparable to that of acne fulminans but with the absence of systemic involvement; we sugge...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2000.00647.x
更新日期:2000-06-01 00:00:00
abstract::Langerhans cells at the site of patch tests to inhaled allergens in patients with atopic dermatitis were investigated. Within 24 h the Langerhans cells showed increased cellular activity and became apposed to mononuclear cells. This supports the view that Langerhans cells are involved in antigen presentation in atopic...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1989.tb00936.x
更新日期:1989-05-01 00:00:00
abstract::Porphyria cutanea tarda (PCT) is believed to be associated with reduced hepatic uroporphyrinogen decarboxylase activity and risk factors such as alcohol abuse and medication with oral contraceptives and certain other drugs. Recently it has been suggested that hepatitis C virus (HCV) infection may also be associated wi...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1996.tb00095.x
更新日期:1996-07-01 00:00:00
abstract::The clinical characteristics associated with hidradenitis suppurativa (HS) severity are poorly understood. In this study, 124 patients with HS from 6 Italian dermatology centres participated in this study. Disease severity was assessed using the Hidradenitis Suppurativa Physician's Global Assessment score (HS-PGA) and...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13861
更新日期:2019-07-01 00:00:00
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
更新日期:2014-04-01 00:00:00
abstract::Postinflammatory hypopigmentation is a common cause of acquired hypopigmentary disorders. It can be a result of cutaneous inflammation, injury or dermatological treatment. There are also many specific conditions that present with hypopigmentation other than postinflammatory hypopigmentation. Most cases of postinflamma...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.2011.04088.x
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Lichen sclerosus (LS) is a chronic inflammatory dermatosis with a predilection for the anogenital region, which mainly affects prepubertal girls and postmenopausal women. The cause is unknown, but a number of potential aetiological factors have been identified. AIM:To examine a cohort of patients with prepu...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13894
更新日期:2019-10-01 00:00:00
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
更新日期:2004-03-01 00:00:00
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 lym...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13668
更新日期:2018-12-01 00:00:00
abstract::The therapeutic use of the induction of an allergic contact sensitivity to diphencyprone in alopecia areata has been studied. Fourteen subjects had alopecia totalis and four had extensive and long-standing alopecia areata. Topical diphencyprone was capable of inducing an allergic contact sensitivity in 16 subjects (89...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1989.tb00915.x
更新日期:1989-03-01 00:00:00
abstract::A case of pure non-epidermotropic cutaneous lymphoma in a human immunodeficiency virus-infected patient is reported following a viral opportunistic infection [cytomegalovirus (CMV) hepatitis]. The lymphoid infiltrate was Epstein-Barr virus and CMV negative with a CD30-positive T-cell phenotype. Molecular analysis demo...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
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
更新日期:2020-03-01 00:00:00
abstract::Incipient osteomalacia developed in a Pakistani patient living in the UK after strict sunlight avoidance forming part of the management of the photosensitivity disorder, chronic actinic dermatitis. The patient's skin type and diet, which included calcium-binding phytates in chappattis, had increased his risk of the co...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2000.00669.x
更新日期:2000-07-01 00:00:00
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_15...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14193
更新日期:2020-08-01 00:00:00
abstract::We wish to report the progress of a patient with pyoderma faciale and Crohn's disease. The patient is interesting in that on two occasions the relapse in her skin condition coincided with the introduction of non-steroidal anti-inflammatory drugs. Therapy with isotretinoin was effective and well tolerated. ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1992.tb00262.x
更新日期:1992-11-01 00:00:00
abstract::This paper reports a unique case of coexistence of vitiligo vulgaris, lichen planus and psoriasis vulgaris in a 53-year-old man. Five years after the onset of vitiligo, lichen planus developed on his lower lip. Another 4 years after the onset of lichen planus, he also exhibited psoriasis on his upper arms and trunk. B...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2006.02066.x
更新日期:2006-05-01 00:00:00