吸烟、饮酒与银屑病病情及中医证型的相关性分析

目的探讨吸烟、饮酒与寻常性银屑病患者的疾病严重程度及中医辨证分型的相关性。方法制定统一调查表,临床中医医生填写寻常性银屑病患者吸烟和饮酒的情况,并对该患者进行辨证分型、皮损面积和病情严重程度指数(PASI)评分,通过χ2检验评价吸烟、饮酒与银屑病患者辨证分型和疾病严重程度的相关性。结果吸烟和饮酒在男性患者中的发生率分别为24.46倍和12.97倍于女性患者(P=0.00);男性患者的病情重于女性患者(P=0.00)。男性患者吸烟与疾病严重程度相关(P<0.05),病情越重,吸烟患者的比例越大;男性患者饮酒、女性患者吸烟和饮酒与病情严重程度均不相关(P>0.05)。寻常性银屑病的辨证以血热证、血燥证和血瘀证为主,占88.32%。吸烟的患者较不吸烟的患者更易出现血瘀证(OR=1.412),而不易出现血燥证(OR=0.795);更易出现挟毒证(OR=1.663),而不易出现挟湿证(OR=0.734)。饮酒的银屑病患者较不饮酒的患者更易出现血瘀证(OR=1.433),而不易出现血燥证(OR=0.763)。结论男性患者吸烟与银屑病病情严重度相关,吸烟和饮酒的患者更易出现难治的血瘀证,应当积极引导患者戒烟、戒酒。     

Diagnosis and treatment of cutaneous paraneoplastic disorders

The skin plays a critical role in the detection of internal malignances. Cutaneous signs of these disorders afford clinicians opportunities for early diagnosis and treatment. We aim to succinctly review the recognition, diagnosis, and treatment of selected cutaneous paraneoplastic diseases. Skin disorders that may be associated with paraneoplastic syndromes include: cutaneous metastases, tripe palms, Sweet's syndrome, glucagonoma, Paget's disease and extramammary Paget's disease, acanthosis nigricans, Birt-Hogg-Dube syndrome, basal cell nevus syndrome, Bazex syndrome (acrokeratosis paraneoplastica), carcinoid syndrome, Cowden's disease(multiple hamartoma syndrome), dermatomyositis, erythema gyratum repens, ichthyosis aquisita, von Recklinghausen's disease, pityriasis rotunda, pyoderma gangrenosum, Quincke's edema (angioedema and paraneoplastic uricaria), paraneoplastic pemphigus, Degos' disease, superior vena cava syndrome, Werner's syndrome, diffuse normolipemic plane xanthomas, and yellow nail syndrome. Treatment for these disorders depends on the nature and anatomic distribution of the primary neoplastic process.     

CLOVE Syndrome with Nevus Unis Lateris: Report of a Case

Abstract: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently described syndrome similar to Proteus syndrome but lacking the progressive or distorting bony overgrowth of Proteus syndrome. We describe a neonate with features of CLOVE syndrome and nevus unius lateris.     

ADULT syndrome due to an R243W mutation in TP63

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.     

Dyspareunia and Sjögren's syndrome

BACKGROUND: Dyspareunia is frequently associated with a psychiatric origin, particularly in patients with no obvious vulvovaginal or pelvic disease. The aim of this study was to assess the frequency of dry syndrome in patients with dyspareunia and to evaluate the main clinical and biological features and follow-up data for women with dyspareunia and dry syndrome. PATIENTS AND METHODS: Twenty-two patients presenting chronic idiopathic dyspareunia (without clear vulvovaginal dermatosis or infection) were included in this retrospective study. All patients underwent history-taking, gynecological examination, a Schirmer tear test, a sugar test, labial salivary gland biopsy assessment and immunological examination. A diagnosis of Sj?gren's syndrome was considered where histological examination of the salivary glands showed a lymphocyte infiltration corresponding to stage 3 or 4 in the Chisholm classification. Diagnosis of dry syndrome without Sj?gren's syndrome was made in patients with xerostomia and/or xerophthalmia without a specific histological picture of Sj?gren's syndrome or immunological abnormalities at salivary gland biopsy. RESULTS: Based on our criteria, 10 patients (45%) had dry syndrome, including 4 with Sj?gren's syndrome and 6 with dry syndrome without Sj?gren's syndrome. 9 of these 10 patients presented either xerostomia (7 cases) and/or xerophthalmia (7 cases). Vaginal dryness was reported by 3 of the 10 women with dry syndrome but also by 4 of 12 women without dry syndrome. Examination of the vulva showed no particular clinical features and treatment with an emollient was not effective in all cases. DISCUSSION: This study showed a high frequency of dry syndrome in patients with chronic "idiopathic" dyspareunia. The incidence of the condition was even greater in women with functional conditions evocative of dry syndrome. Women presenting dyspareunia with no clearly related clinical causes should thus be carefully assessed for dry syndrome.     

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.     

The premature ageing syndromes

Eight patients are reported who all have one feature in common, the appearance of premature ageing. Six of these could be accurately classified into previously described syndromes, but the other two may represent a new syndrome which we have called metageria. Clinical and other features of these two individuals are compared with three patients with acrogeria (Gottron's syndrome), one with pangeria (Werner's syndrome), one with progeria (Hutchinson-Gilford syndrome) and one with a total lipodystrophy (Lawrence's syndrome).     

Neuro-cardio-facial-cutaneous syndrome

The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) mental retardation or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid tumors and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, Legius syndrome, LEOPARD syndrome, Noonan syndrome, Costello syndrome and cardiofaciocutaneous (CFC) syndrome. While the majority of these diseases are readily distinguishable in clinical terms, with or without diagnostic criteria, none of them have any pathognomonic signs. Many cases attest to the strong clinical homologies and forms of overlapping between these different diseases. In recent years, the discovery of germinal mutations of these different diseases has in fact reinforced the unifying clinical and biochemical concept of NCFC syndrome.     

Structural Hair Abnormalities in Ectodermal Dysplasia

The hair of patients with three ectodermal dysplasias--ectrodactyly ectodermal dysplasia clefting syndrome (EEC); orofacial-digital syndrome (OFD) type I; and anhidrotic ectodermal dysplasia syndrome (AED)--were studied by scanning electron microscopy. While no pathognomonic abnormalities were noted for each condition, hair shaft structural defects were evident in all patients studied. The EEC clefting syndrome and OFD I shared the most deforming defects, while AED had fewer.     

Toxic shock syndrome

The toxic-shock syndrome (TSS) is a recently recognized syndrome characterized by sudden onset of high fever, vomiting, and diarrhea with rapid progression to hypotension and shock. It is caused by one or more not yet clearly defined exotoxins from staphylococcus aureus. The disease primarily affects young women using tampons during their menstrual periods, although it occurs also in non-menstruating women and in men. In these cases extragenital staphylococcus aureus infections are found. Since 1981 the toxic-shock syndrome associated with menstruation has occurred less frequently, whereas the non-menses-related toxic-shock syndrome appears with similar frequency. The syndrome resembles Kawasaki disease (mucocutaneous lymph node syndrome) in several aspects, namely fever, rash with subsequent desquamation, and cardiovascular involvement. However, shock, which is prominent in toxic-shock syndrome, is not usually seen in Kawasaki disease.     

The Ehlers-Danlos syndrome: recognition, characterization, and importance of a milder variant of the classic form. A preliminary study

The diagnosis of Ehlers-Danlos syndrome is based on the clinical criteria of joint hypermobility, increased skin extensibility, abnormal scarring, and easy bruisibility. The literature reports this syndrome as rare, yet our experience dictated to the contrary. The present study of the prevalence of Ehlers-Danlos syndrome in a general dermatology population revealed (1) a milder variant of the classic mitis form of Ehlers-Danlos syndrome was common and present in 9% of the population studied, (2) these patients could be easily identified by the use of a defined clinical scoring system, and (3) a statistically significant association existed between clinical findings in Ehlers-Danlos syndrome and electron microscopic collagen abnormalities. The identification of this syndrome may be important prognostically in patients with diseases or conditions in which collagen plays a major role, such as joint disease (dislocations), bruising disease (pigmented purpura), and potentially scarring diseases (acne, patients undergoing cutaneous surgery).     

Glucagonoma syndrome: a review and update on treatment

Glucagonoma syndrome is defined by the presence of an alpha‐cell secreting tumour of the pancreas, elevated levels of glucagon, and a characteristic rash called necrolytic migratory erythema (NME). NME is usually a specific and often initial finding of glucagonoma syndrome, but it may occur in other settings unassociated with an alpha‐cell pancreatic tumour (pseudoglucagonoma syndrome). Glucagonoma syndrome must be distinguished from pseudoglucagonoma syndrome. Prompt recognition of NME and subsequent workup for a glucagonoma can allow for an earlier diagnosis and enhance the chances of a favourable outcome. In particular, metastases occur late, so early recognition of glucagonoma syndrome before liver metastases can be life‐saving. Surgical resection is the definitive treatment for glucagonoma syndrome, although chemotherapeutic agents, somatostatin analogues and radionuclide therapy are also employed. Herein, we offer an approach to workup after identifying NME and an update on its current treatment modalities.     

Hay‐Wells syndrome in a child with mutation in the TP73L gene

Hay‐Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three‐month‐old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp‐Hodgkin syndrome, Bowen‐Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.     

Ocular sequelae and sicca syndrome following Lyell's syndrome

The mucous lesions are customary in toxic epidermal necrolysis. The acute ocular lesions have led to definitive sequelae. 22 out of 32 patients surviving to a Lyell's syndrome lend themselves to an ophthalmological supervision. 13 of these 22 patients (59 p. 100) presented a sicca syndrome with a decrease of the lacrimal secretion (12 cases) and/or salivary secretion (8 cases). The sicca syndrome appeared sometimes from the beginning of the acute phase of the Lyell's syndrome or more often a few weeks later. This decrease of the lacrimal flux went along with objective corneal lesions among 11 patients, and 6 of them had a change of the visual function. A biopsy of the accessory salivary glands was performed on 7 of these patients having a reduction of the salivary flux. 5 of these 7 biopsies showed lymphocytic infiltrates giving in 2 cases a nodular aspect, grade III of Chisholm's classification, held to be pathognomonic of Sj?gren syndrome. The 13 patients having presented a sicca syndrome differed from the other 9 patients (without sicca syndrome) by a higher severity of their Lyell's syndrome and by a higher age. None of our patients with dry syndrome had antinuclear antibody detected by immunofluorescence on sections of rat's livers. Sicca syndromes with sometimes lymphocytic infiltrate similar to those of Sj?gren's syndrome were occasionally imputed to drug reactions. The occurrence of "Sj?gren like's syndrome" after a toxic epidermal necrolysis suggests the intervening of autoimmune phenomena in the pathogenesis of this toxic epidermal necrolysis.(ABSTRACT TRUNCATED AT 250 WORDS)     

Epidermal nevus syndromes: clinical findings in 35 patients

Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty-five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31-year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.     

A case of Sjögren's syndrome, sarcoidosis, previous ulcerative colitis and gastric autoantibodies

We describe a patient with sicca syndrome. Raynaud's phenomenon and fixed waxy skin lesions. Investigations conformed both Sjögren's syndrome and sarcoidosis. The patient had previously had ulcerative colitis and other antibody evidence of autoimmunity. The spectrum of disorders reported in association with Sjögren's syndrome and sarcoidosis is wider than suggested in the acronym TASS syndrome (thyroiditis, Addison's disease, Sjögren's syndrome and sarcoidosis), and we suggest that the acronym TOASSUC (thyroiditis. other autoimmunity, Sjögren's syndrome, sarcoidosis, ulcerative colitis) includes a wider range of disorders and may he more memorable.     

Gastrointestinal polyposis syndromes

Well recognized cutaneointestinal syndromes in which colonic polyps are a constant and defining feature include Gardner's syndrome (familial adenomatous polyposis), Peutz-Jeghers syndrome, and Cronkhite-Canada syndrome. Colonic polyps are also found with increased frequency in Cowden's disease, the Muir-Torre syndrome, and neurofibromatosis. The Ruvalcaba-Myhre-Smith syndrome is a newly defined entity in this category. The relationship between acrochordons and colonic polyps remains a controversial issue, awaiting additional studies.     

Unusual Cystic Scalp Lesions in Gorlin Syndrome: A Brief Report

Abstract: Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems. We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele. These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.     

The CHILD syndrome. Histologic and ultrastructural studies

A 4 1/2-month-old female infant had cutaneous and musculoskeletal changes consistent with the diagnosis of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. This syndrome encompasses abnormalities of several organ systems, and its origins and pathogenesis are poorly understood. This report describes an additional patient with this uncommon syndrome and includes light and electron microscopic studies of her skin lesions. Our patient's clinical features of meningocele, Shone's syndrome, and the electron microscopic findings have not previously been described in the American literature (to our knowledge) in association with this syndrome.     

Drug rash with eosinophilia and systemic symptoms vs toxic epidermal necrolysis: the dilemma of classification

According to contemporary vernacular, when the cutaneous manifestations of drug rash with eosinophilia and systemic signs (DRESS) syndrome are those of Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN), the condition is defined as "DRESS syndrome with severe cutaneous reactions". In this article, we have presented arguments for and against including patients with skin lesions of the SJS/TEN syndromes who also have fever (practically all of the patients) and internal organ involvement (most of the patients) under the definition of DRESS syndrome. After weighing the arguments for and against this alteration of definition, we conclude that it makes more sense for patients with SJS/TEN to be classified as such and not be lumped together under the misleading label of DRESS syndrome.