AIM：To evaluate the functional outcome after removal of silicone oil（ROSO）in patients undergoing retinectomy for complex retinal detachment.·M ETHODS：We performed a retrospective case note review of patients ...AIM：To evaluate the functional outcome after removal of silicone oil（ROSO）in patients undergoing retinectomy for complex retinal detachment.·M ETHODS：We performed a retrospective case note review of patients who underwent ROSO after retinectomy for complex retinal detachment.Patients with less than 6mo follow up and recurrent retinal detachment following ROSO were excluded.·RESULTS：Thirty-six patients were included.The mean best corrected visual acuity（BCVA）pre-ROSO was1.13 log MAR（SD 0.5）.The mean BCVA 3mo following ROSO was 1.16 log MAR（SD 0.53）,6mo following ROSO1.13（SD 0.63）,and 12mo following ROSO 1.18（SD 0.69）.At 12mo after ROSO,the BCVA improved in 38.9%of patients,remained unchanged in 25%,and deteriorated in 36.1%,although there was no statistical significant difference in BCVA after ROSO at 3,6 and 12mo（=0.93）.The size of retinectomy ranged from 15°to 270°（SD 53）and did not influence the visual outcome（=0.11）.·C ONCLUSION：There was no statistically significant difference in BCVA between pre-and post-ROSO following retinectomy for complex retinal detachment.There was no statistical difference in visual outcome related to the size of the retinectomy.展开更多
Background: Pemphigoid gestationis (PG) is a rare pregnancyassociated subepidermal immunobullous disease that targets hemidesmosomal proteins, particularly BP180. Clinically, PG can resemble the eruption known as poly...Background: Pemphigoid gestationis (PG) is a rare pregnancyassociated subepidermal immunobullous disease that targets hemidesmosomal proteins, particularly BP180. Clinically, PG can resemble the eruption known as polymorphic urticarial papules and plaques of pregnancy (PUPPP), and accurate differentiation between these 2 pruritic pregnancy dermatoses has important implications for fetal and maternal prognoses. Results of epitope mapping studies show that IgG autoantibodies in up to 90%of PG serum samples target the well-defined membrane-proximal NC16a domain of BP180. Objective: To examine the usefulness of a commercially available NC16a domain enzyme-linked immunosorbent assay in the serodiagnosis of PG and in the differentiation of PG from PUPPP. Participants: A total of 412 women consisting of pretreatment patients with PG (n=82), patients with PUPPP (n=164), and age-and sex-matched controls (n=166). Methods: All serum samples were assayed in duplicate. Receiver operating characteristic analyses were performed to determine a cutoff value for the diagnosis of PG and for differentiation from PUPPP and controls. Results: A cutoff value of 10 enzyme-linked immunosorbent assay units was associated with specificity and sensitivity of 96%. Conclusions: The NC16a enzyme-linked immunosorbent assay is highly sensitive and highly specific in differentiating PG from PUPPP, and it is potentially a valuable tool in the serodiagnosis of PG.展开更多
Background: Unexplained sudden visual loss after removal of silicone oil from the eye has recently been described. We report the occurrence and features of unexplained central scotoma developing with silicone oil in s...Background: Unexplained sudden visual loss after removal of silicone oil from the eye has recently been described. We report the occurrence and features of unexplained central scotoma developing with silicone oil in situ in the vitreous cavity. Methods: A retrospective case series of five patients (from two centres)-who reported a central scotoma commencing during silicone oil tamponade was studied. All patients had vitrectomy for macula-on retinal detachment, with ultra-purified silicone oil tamponade (four out of five had giant retinal tear). Investigations included visual acuity, intraocular pressure, optical coherence tomography, fluorescein angiography, visual fields and electrophysiology. Results: All patients reported a central scotoma that appeared during oil tamponade. Visual acuity fell by a mean of 0.93 LogMAR units after onset of the scotoma. After cataract extraction and oil removal, vision remained reduced by a mean of 0.8 units. The mean duration of oil in the eye was 2.7months when the scotoma was noted by the patient. Investigations were performed after removal of oil. Fluorescein angiography (FFA) was performed in two cases and optical coherence tomography (OCT) in five patients. No abnormality was demonstrated. Electrophysiology was performed in five patients with pattern electroretinography suggestive of macular dysfunction in four patients. Conclusion: This is the first case series describing central scotoma as sociated with silicone oil in situ. Electrophysiology indicated macular dysfunction in most cases. We suggest that early removal of oil in cases with good visual potential should be considered to avoid this sightthreatening complication.展开更多
Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and specu...Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and speculate that it may be significantly under-reported due to misidentifying the causal drug, which may have serious consequences. We discuss treatment alternatives such as fondaparinux sodium, which may rarely cross-react.展开更多
Three children with severe atopic dermatitis were noted at routine follow- up to have developed multiple small pigmented macules during long- term therapy with topical tacrolimus 0.1% (Protopic., Fujisawa). Representa...Three children with severe atopic dermatitis were noted at routine follow- up to have developed multiple small pigmented macules during long- term therapy with topical tacrolimus 0.1% (Protopic., Fujisawa). Representative lesions in two of the three cases were confirmed histologically as simple lentigines. The focal distribution of lentigines to sites of tacrolimus use, and the temporal association between use of tacrolimus and development of lesions, suggest that topical tacrolimus is of direct aetiological relevance to their development. Careful long-term follow-up will be required to assess the clinical implications of these findings and whether they represent an increase in risk for melanocytic neoplasia.展开更多
We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uv...We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.展开更多
Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected...Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected individuals, who are chiefly fishermen and dock labourers. It involves regions of skin directly exposed to sea water and areas where water may course. As A. diaphanum is common in the coastal waters of Britain, Ireland and neighbouringmainland Europe, it is important for dermatologists to be aware of Dogger Bank itch. Data published in 1966 suggested that 7% of trawler- men at the UK port of Lowestoft had the condition. The current epidemiology is unknown, but the disease still occurs despite shrinkage of the fishing industry, and the condition is not confined to North Sea trawler- men as had been thought previously. It has been reported in trawler- men from Le Havre and shell fishermen from Cornwall, and we report it here in a fisherman using fixed nets in the eastern English Channel.展开更多
Background: Diagnosing primary sclerosing cholangitis (PSC) is problematic and requires meeting a burden of proof through clinical, biochemical, radiologic, and histological features. Endoscopic ultrasound yields deta...Background: Diagnosing primary sclerosing cholangitis (PSC) is problematic and requires meeting a burden of proof through clinical, biochemical, radiologic, and histological features. Endoscopic ultrasound yields detailed images of the extrahepatic biliary tree, but its value in contributing to the diagnosis of this condition is unknown. Objectives: To determine the potential for transduodenal EUS to detect common bile duct wall thickening in PSC.Design: A prospective, controlled study with retrospective, blinded data analysis. Setting: Single tertiary referral center for inflammatory bowel disease and EUS. Patients: Four groups of patients were assessed with radial endosonography: PSC (n = 9); inflammatory bowel disease (IBD) with abnormal liver blood tests (n = 21); choledocholithiasis (n = 15); and normal controls (n = 50). Measurements were made of the common bile duct diameter and wall thickness. Interventions: Transduodenal radial EUS of the biliary tree. Main Outcome Measurements: Common bile duct diameter and wall thickness. Results: The mean diameter (SD) of the common bile duct for the PSC, IBD, choledocholithiasis, and normal control groups measured 8.9 mm (2.8), 5.4 mm (1.7), 7.2 mm (2.2), and 5.0 mm (1.9), respectively (PSC and chole-docholithiasis groups compared to the IBD group, P < .05 for a single test of hypothesis, but correction for the multiple testing of data removed this significance; normal control group P < .005). Mean ductal wall thickness (SD) was 2.5 mm (0.8) for the PSC group, 0.7 mm (0.4) for the IBD group, 0.8 mm (0.4) for the choledocholithiasis group, and 0.8 mm (0.4) for the normal control group, respectively (PSC group compared to the other 3 groups, P < .005). Limitations: Assessment of intrahepatic PSC is problematic. Conclusion: Thickening ( >1.5 mm) of the common bile duct wall is seen in patients with PSC but not in those with aPPArently uncomplicated IBD or choledocholithiasis. The results of this study suggest that standard endosonography contributes to the imaging and potentially to the diagnosis of PSC.展开更多
Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, w...Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.展开更多
Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The h...Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The histiocytes are immunopositive for S100 protein and are typically associated with an infiltrate of lymphocytes, plasma cells, and neutrophils. The classic clinical presentation is massive enlargement of (usually) cervical lymph nodes with a histologic appearance that mimics exaggerated sinus histiocytosis. RDD can also involve extranodal sites and skin involvement is common either as part of disseminated disease or as a result of primary disease. We report an exceptional case of cutaneous RDD with crystal deposition in a young male presenting with skin nodules. Skin biopsy showed classic features of cutaneous RDD with the additional feature of conspicuous rhomboidal and needle- shaped crystals within the cytoplasm of many lesional plasma cells, histiocytes, and also in an extracellular location. The plasma cells were polyclonal by light chain immunostaining. Crystal deposition has not been reported to date in RDD and is likely a result of the reactive plasma cell proliferation.展开更多
Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main sy...Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.展开更多
Background: Infliximab, a mouse-human chimeric monoclonal antibody directed against tumour necrosis factor-α , has been shown to be effective for moderate to severe psoriasis, but there are few data published on its ...Background: Infliximab, a mouse-human chimeric monoclonal antibody directed against tumour necrosis factor-α , has been shown to be effective for moderate to severe psoriasis, but there are few data published on its use in recalcitrant, treatment-resistant resistant disease or in combination with other antipsoriatic therapies. Objectives: To report our experience with infliximab in the treatment of patients attending a tertiary referral service with severe recalcitrant disease. Methods: All patients attending a tertiary referral service for severe psoriasis who were treated with infliximab between 2002 and July 2005 were entered into a prospective, open-label study. Details on disease phenotype, clinical course and adverse events were recorded together with measures of disease severity [Psoriasis Area and Severity Index (PASI), Dermatology Life Quality Index, clinical photography] at baseline, weeks 2 and 6, and then at 2-monthly intervals throughout the treatment period. Results: Twenty three patients were treated with infliximab during the study; one patient had pustular psoriasis and was therefore excluded from statistical analysis. All had severe disease (baseline PASI 26.5 ± 6.7, mean ± SD, n = 22) and had received at least two systemic therapies for psoriasis in the past; 16 were taking one or more concomitant therapies at the time of treatment initiation. At week 10, 95% had achieved a 50% or greater improvement in baseline PASI (PASI 50), and 77% had achieved a 75% or greater improvement (PASI 75). Efficacy was sustained in the longer term, with eight of 10 patients on treatment for more than 11 months maintaining at least a PASI 50. Only one patient had treatment withdrawn due to lack of efficacy, two suffered severe systemic infections including extrapulmonary tuberculosis (splenic abscess) and cellulitis, and six have discontinued due to adverse effects including infusion reactions (two), severe thrombocytopenia (one), hepatitis (one) and malignancy (two). Conclusions: Data from this open-label study suggest that infliximab is a rapidly effective treatment for patients with severe, treatment-resistant disease, although approximately 25% of patients had to discontinue therapy due to the development of serious adverse effects. Long-term follow-up, continued pharmacovigilance, and further controlled comparative studies will be required to evaluate fully the risks associated with infliximab in the context of this already difficult to treat population.展开更多
Objective:To determine outcome of delivery before 36 weeks gestation in babie s diagnosed antenatally with serious congenital heart disease(CHD).Study desig n:A retrospective database review at 2 tertiary care fetal c...Objective:To determine outcome of delivery before 36 weeks gestation in babie s diagnosed antenatally with serious congenital heart disease(CHD).Study desig n:A retrospective database review at 2 tertiary care fetal cardiology centers.Details of neonatal course and outcome were obtained for those antenatally diagn osed with serious CHD who were live born before 36 weeks gestation.Results:Bet ween January 1998 and December 2002,9918 women were referred for fetal echocard iography.Serious CHD was diagnosed in 1191 fetuses(12%),of which 46(4%)de livered prematurely.Median gestation was 33(range 24-35)weeks,and median bi rth weight 1.56(0.50-3.59)kg.Extracardiac/karyotypic anomalies occurred in 23(50%).Twenty-six babies(57%)underwent neonatal surgery:16 a cardiac pr ocedure,5 a general surgical procedure,and 5 both.Eight died during or after operation(31%).Two babies underwent interventional heart catheterization;bot h died.The overall mortality rate was 72%.Extracardiac/karyotypic anomalies i ncreased the relative risk of death by a factor of 1.36.Mean hospital stay for those surviving to initial discharge was 46(2-137)days.Conclusions:There is a very high morbidity and mortality rate in this group,particularly for those with extracardiac/karyotypic anomalies.This should be reflected in decisions ov er elective preterm delivery and when counseling parents.展开更多
Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2-...Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2- year history of SCLE that demonstrated a close temporal relationship with a squamous cell malignancy of the head and neck. This association has not been previously reported. We also review the evidence for SCLE as a ‘ paraneoplastic dermatosis’ and discuss the criteria for diagnosis and possible pathogenesis.展开更多
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, a...Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and suscept-ibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previou-sly been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.展开更多
Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malign...Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malignancy. We describe four patients with variable cutaneous features, and their treatment response.展开更多
文摘AIM：To evaluate the functional outcome after removal of silicone oil（ROSO）in patients undergoing retinectomy for complex retinal detachment.·M ETHODS：We performed a retrospective case note review of patients who underwent ROSO after retinectomy for complex retinal detachment.Patients with less than 6mo follow up and recurrent retinal detachment following ROSO were excluded.·RESULTS：Thirty-six patients were included.The mean best corrected visual acuity（BCVA）pre-ROSO was1.13 log MAR（SD 0.5）.The mean BCVA 3mo following ROSO was 1.16 log MAR（SD 0.53）,6mo following ROSO1.13（SD 0.63）,and 12mo following ROSO 1.18（SD 0.69）.At 12mo after ROSO,the BCVA improved in 38.9%of patients,remained unchanged in 25%,and deteriorated in 36.1%,although there was no statistical significant difference in BCVA after ROSO at 3,6 and 12mo（=0.93）.The size of retinectomy ranged from 15°to 270°（SD 53）and did not influence the visual outcome（=0.11）.·C ONCLUSION：There was no statistically significant difference in BCVA between pre-and post-ROSO following retinectomy for complex retinal detachment.There was no statistical difference in visual outcome related to the size of the retinectomy.
文摘Background: Pemphigoid gestationis (PG) is a rare pregnancyassociated subepidermal immunobullous disease that targets hemidesmosomal proteins, particularly BP180. Clinically, PG can resemble the eruption known as polymorphic urticarial papules and plaques of pregnancy (PUPPP), and accurate differentiation between these 2 pruritic pregnancy dermatoses has important implications for fetal and maternal prognoses. Results of epitope mapping studies show that IgG autoantibodies in up to 90%of PG serum samples target the well-defined membrane-proximal NC16a domain of BP180. Objective: To examine the usefulness of a commercially available NC16a domain enzyme-linked immunosorbent assay in the serodiagnosis of PG and in the differentiation of PG from PUPPP. Participants: A total of 412 women consisting of pretreatment patients with PG (n=82), patients with PUPPP (n=164), and age-and sex-matched controls (n=166). Methods: All serum samples were assayed in duplicate. Receiver operating characteristic analyses were performed to determine a cutoff value for the diagnosis of PG and for differentiation from PUPPP and controls. Results: A cutoff value of 10 enzyme-linked immunosorbent assay units was associated with specificity and sensitivity of 96%. Conclusions: The NC16a enzyme-linked immunosorbent assay is highly sensitive and highly specific in differentiating PG from PUPPP, and it is potentially a valuable tool in the serodiagnosis of PG.
文摘Background: Unexplained sudden visual loss after removal of silicone oil from the eye has recently been described. We report the occurrence and features of unexplained central scotoma developing with silicone oil in situ in the vitreous cavity. Methods: A retrospective case series of five patients (from two centres)-who reported a central scotoma commencing during silicone oil tamponade was studied. All patients had vitrectomy for macula-on retinal detachment, with ultra-purified silicone oil tamponade (four out of five had giant retinal tear). Investigations included visual acuity, intraocular pressure, optical coherence tomography, fluorescein angiography, visual fields and electrophysiology. Results: All patients reported a central scotoma that appeared during oil tamponade. Visual acuity fell by a mean of 0.93 LogMAR units after onset of the scotoma. After cataract extraction and oil removal, vision remained reduced by a mean of 0.8 units. The mean duration of oil in the eye was 2.7months when the scotoma was noted by the patient. Investigations were performed after removal of oil. Fluorescein angiography (FFA) was performed in two cases and optical coherence tomography (OCT) in five patients. No abnormality was demonstrated. Electrophysiology was performed in five patients with pattern electroretinography suggestive of macular dysfunction in four patients. Conclusion: This is the first case series describing central scotoma as sociated with silicone oil in situ. Electrophysiology indicated macular dysfunction in most cases. We suggest that early removal of oil in cases with good visual potential should be considered to avoid this sightthreatening complication.
文摘Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and speculate that it may be significantly under-reported due to misidentifying the causal drug, which may have serious consequences. We discuss treatment alternatives such as fondaparinux sodium, which may rarely cross-react.
文摘Three children with severe atopic dermatitis were noted at routine follow- up to have developed multiple small pigmented macules during long- term therapy with topical tacrolimus 0.1% (Protopic., Fujisawa). Representative lesions in two of the three cases were confirmed histologically as simple lentigines. The focal distribution of lentigines to sites of tacrolimus use, and the temporal association between use of tacrolimus and development of lesions, suggest that topical tacrolimus is of direct aetiological relevance to their development. Careful long-term follow-up will be required to assess the clinical implications of these findings and whether they represent an increase in risk for melanocytic neoplasia.
文摘We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.
文摘Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected individuals, who are chiefly fishermen and dock labourers. It involves regions of skin directly exposed to sea water and areas where water may course. As A. diaphanum is common in the coastal waters of Britain, Ireland and neighbouringmainland Europe, it is important for dermatologists to be aware of Dogger Bank itch. Data published in 1966 suggested that 7% of trawler- men at the UK port of Lowestoft had the condition. The current epidemiology is unknown, but the disease still occurs despite shrinkage of the fishing industry, and the condition is not confined to North Sea trawler- men as had been thought previously. It has been reported in trawler- men from Le Havre and shell fishermen from Cornwall, and we report it here in a fisherman using fixed nets in the eastern English Channel.
文摘Background: Diagnosing primary sclerosing cholangitis (PSC) is problematic and requires meeting a burden of proof through clinical, biochemical, radiologic, and histological features. Endoscopic ultrasound yields detailed images of the extrahepatic biliary tree, but its value in contributing to the diagnosis of this condition is unknown. Objectives: To determine the potential for transduodenal EUS to detect common bile duct wall thickening in PSC.Design: A prospective, controlled study with retrospective, blinded data analysis. Setting: Single tertiary referral center for inflammatory bowel disease and EUS. Patients: Four groups of patients were assessed with radial endosonography: PSC (n = 9); inflammatory bowel disease (IBD) with abnormal liver blood tests (n = 21); choledocholithiasis (n = 15); and normal controls (n = 50). Measurements were made of the common bile duct diameter and wall thickness. Interventions: Transduodenal radial EUS of the biliary tree. Main Outcome Measurements: Common bile duct diameter and wall thickness. Results: The mean diameter (SD) of the common bile duct for the PSC, IBD, choledocholithiasis, and normal control groups measured 8.9 mm (2.8), 5.4 mm (1.7), 7.2 mm (2.2), and 5.0 mm (1.9), respectively (PSC and chole-docholithiasis groups compared to the IBD group, P < .05 for a single test of hypothesis, but correction for the multiple testing of data removed this significance; normal control group P < .005). Mean ductal wall thickness (SD) was 2.5 mm (0.8) for the PSC group, 0.7 mm (0.4) for the IBD group, 0.8 mm (0.4) for the choledocholithiasis group, and 0.8 mm (0.4) for the normal control group, respectively (PSC group compared to the other 3 groups, P < .005). Limitations: Assessment of intrahepatic PSC is problematic. Conclusion: Thickening ( >1.5 mm) of the common bile duct wall is seen in patients with PSC but not in those with aPPArently uncomplicated IBD or choledocholithiasis. The results of this study suggest that standard endosonography contributes to the imaging and potentially to the diagnosis of PSC.
文摘Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
文摘Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The histiocytes are immunopositive for S100 protein and are typically associated with an infiltrate of lymphocytes, plasma cells, and neutrophils. The classic clinical presentation is massive enlargement of (usually) cervical lymph nodes with a histologic appearance that mimics exaggerated sinus histiocytosis. RDD can also involve extranodal sites and skin involvement is common either as part of disseminated disease or as a result of primary disease. We report an exceptional case of cutaneous RDD with crystal deposition in a young male presenting with skin nodules. Skin biopsy showed classic features of cutaneous RDD with the additional feature of conspicuous rhomboidal and needle- shaped crystals within the cytoplasm of many lesional plasma cells, histiocytes, and also in an extracellular location. The plasma cells were polyclonal by light chain immunostaining. Crystal deposition has not been reported to date in RDD and is likely a result of the reactive plasma cell proliferation.
文摘Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.
文摘Background: Infliximab, a mouse-human chimeric monoclonal antibody directed against tumour necrosis factor-α , has been shown to be effective for moderate to severe psoriasis, but there are few data published on its use in recalcitrant, treatment-resistant resistant disease or in combination with other antipsoriatic therapies. Objectives: To report our experience with infliximab in the treatment of patients attending a tertiary referral service with severe recalcitrant disease. Methods: All patients attending a tertiary referral service for severe psoriasis who were treated with infliximab between 2002 and July 2005 were entered into a prospective, open-label study. Details on disease phenotype, clinical course and adverse events were recorded together with measures of disease severity [Psoriasis Area and Severity Index (PASI), Dermatology Life Quality Index, clinical photography] at baseline, weeks 2 and 6, and then at 2-monthly intervals throughout the treatment period. Results: Twenty three patients were treated with infliximab during the study; one patient had pustular psoriasis and was therefore excluded from statistical analysis. All had severe disease (baseline PASI 26.5 ± 6.7, mean ± SD, n = 22) and had received at least two systemic therapies for psoriasis in the past; 16 were taking one or more concomitant therapies at the time of treatment initiation. At week 10, 95% had achieved a 50% or greater improvement in baseline PASI (PASI 50), and 77% had achieved a 75% or greater improvement (PASI 75). Efficacy was sustained in the longer term, with eight of 10 patients on treatment for more than 11 months maintaining at least a PASI 50. Only one patient had treatment withdrawn due to lack of efficacy, two suffered severe systemic infections including extrapulmonary tuberculosis (splenic abscess) and cellulitis, and six have discontinued due to adverse effects including infusion reactions (two), severe thrombocytopenia (one), hepatitis (one) and malignancy (two). Conclusions: Data from this open-label study suggest that infliximab is a rapidly effective treatment for patients with severe, treatment-resistant disease, although approximately 25% of patients had to discontinue therapy due to the development of serious adverse effects. Long-term follow-up, continued pharmacovigilance, and further controlled comparative studies will be required to evaluate fully the risks associated with infliximab in the context of this already difficult to treat population.
文摘Objective:To determine outcome of delivery before 36 weeks gestation in babie s diagnosed antenatally with serious congenital heart disease(CHD).Study desig n:A retrospective database review at 2 tertiary care fetal cardiology centers.Details of neonatal course and outcome were obtained for those antenatally diagn osed with serious CHD who were live born before 36 weeks gestation.Results:Bet ween January 1998 and December 2002,9918 women were referred for fetal echocard iography.Serious CHD was diagnosed in 1191 fetuses(12%),of which 46(4%)de livered prematurely.Median gestation was 33(range 24-35)weeks,and median bi rth weight 1.56(0.50-3.59)kg.Extracardiac/karyotypic anomalies occurred in 23(50%).Twenty-six babies(57%)underwent neonatal surgery:16 a cardiac pr ocedure,5 a general surgical procedure,and 5 both.Eight died during or after operation(31%).Two babies underwent interventional heart catheterization;bot h died.The overall mortality rate was 72%.Extracardiac/karyotypic anomalies i ncreased the relative risk of death by a factor of 1.36.Mean hospital stay for those surviving to initial discharge was 46(2-137)days.Conclusions:There is a very high morbidity and mortality rate in this group,particularly for those with extracardiac/karyotypic anomalies.This should be reflected in decisions ov er elective preterm delivery and when counseling parents.
文摘Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2- year history of SCLE that demonstrated a close temporal relationship with a squamous cell malignancy of the head and neck. This association has not been previously reported. We also review the evidence for SCLE as a ‘ paraneoplastic dermatosis’ and discuss the criteria for diagnosis and possible pathogenesis.
文摘Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and suscept-ibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previou-sly been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.
文摘Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malignancy. We describe four patients with variable cutaneous features, and their treatment response.
