Background: Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been in...Background: Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of patients. Objectives: To document the clinical features of EPP and its impact on QoL in a high proportion of all patients with EPP resident in the U.K.Methods: Patients with EPP were identified fromU.K. clinical databases and assessed by the same clinical investigator over a 7-month period using a standardized proforma and validated adult (Dermatology Life Quality Index, DLQI) and children’s (Children’sDermatology Life Quality Index, CDLQI) QoL questionnaires. Results: Three hundred and eighty-nine living patients with EPP were identified, of whom 223 [114 females, 109 males; median age 34 years (range: 5-87), from 193 families] were investigated. Total erythrocyte porphyrin (TEP) was higher in males (median: 25.3 μmol L-1)-than females (median: 19.3 μmol L-1). The median ages at onset and diagnosis were 1 and 12 years, respectively. Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively. Most patients reported absence of protection by glass (92%), priming (85%), exacerbation by wind (68%), no family history of photosensitivity (56%), no symptoms during winter (56%) and had chronic skin lesions (79%). Symptoms changed little with age but improved during pregnancy in 47%of gravid women. Most patients used protective clothing and a sunscreen; 28%were taking β-carotene and a further 56%had taken it; 29%were not under regular medical care. Two patients (1%) had liver failure and 8%reported gallstone disease. QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14.0, n = 176; mean CDLQI score 12.8, n = 44), indicating a large effect on patients’lives. DLQI scores correlated weakly with TEP (rs = 0.228; P = 0.002) and time to onset of symptoms (rs = -0.233; P = 0.002) but not with age at onset. Conclusions: EPP is a persistent, severely painful, socially disabling disease with amarked impact on QoL. Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients.展开更多
Background: Over the last three decades, the oral retinoids etretinate and acitretin have revolutionized the treatment of disorders of keratinization (DOK). Many patients with DOK require life-long treatment with oral...Background: Over the last three decades, the oral retinoids etretinate and acitretin have revolutionized the treatment of disorders of keratinization (DOK). Many patients with DOK require life-long treatment with oral retinoids. However, the longest follow-up data of patients with DOK on oral retinoid therapy is 10 years for adults and up to 11 years for children. Objectives: The aim of our study was to collect long-term retrospective data including disease response, side-effects and pregnancy outcome in a cohort of patients with DOK who were among the first in the world to commence oral retinoids 25 years ago. Methods: Between 1979 and 1981, 30 patients with DOK were commenced on oral etretinate in our department. Case notes of these patients were reviewed retrospectively, and patients interviewed where possible to obtain the following information: diagnosis, age when treatment commenced, duration of treatment, reason for discontinuation of therapy, side-effects, abnormal investigation results and pregnancy outcomes. Results: Case notes of 23 of the 30 patients were available for review; of these, two patients were deceased and 14 were interviewed. In the 23 patients, the mean age of commencing treatment was 33.5 years (range 4.2-61) and the mean duration of etretinate therapy was 5.2 years (range 1 month to 14 years). Reasons for discontinuing treatment were an overall improvement in the skin disease (six of 23), no benefit ±side effects (11 of 23) and noncompliance (one of 23). Two patients died of causes unrelated to their skin disease or treatment, 12 and 4 years after stopping etretinate. Five patients (one female, four males) subsequently changed to acitretin and are currently continuing therapy. The mean total duration of retinoid therapy (etretinate and acitretin) for the four males was 23.7 years (range 20.6-25.1). The female patient continued intermittent courses (due to planned pregnancies) of oral retinoids for a total of 10.1 years over the last 25 years. Abnormal investigation results included elevated serum triglycerides and cholesterol (two of 23), isolated high triglycerides (three of 23), isolated high cholesterol (three of 23), worsening of liver enzymes in a patient with alcohol dependence, and elevated serum alkaline phosphatase (ALP) in healthy adults (three of 23). In two children, the elevated pretreatment ALP levels increased further after commencing etretinate but returned to normal in adulthood while treatment continued. One patient developed diffuse idiopathic skeletal hyperostosis after 21 years of retinoid therapy. One female patient had two early spontaneous abortions 2.75 and 3.2 years after discontinuing etretinate; she subsequently had two normal children. Two other females had normal children 1, 3 and 5 years after stopping etretinate. Two male patients fathered a total of three healthy children while on etretinate. Conclusions: This study provides the longest available follow-up data of children and adults with DOK on oral retinoid therapy. Such information is essential for clinicians and their patients with DOK embarking on life long treatment with retinoids.展开更多
Background: Etanercept, a soluble tumour necrosis factor receptor, lessens the severity of psoriasis as measured by physician-reported clinical outcomes. Equally important is the patient perspective on the effect of e...Background: Etanercept, a soluble tumour necrosis factor receptor, lessens the severity of psoriasis as measured by physician-reported clinical outcomes. Equally important is the patient perspective on the effect of etanercept therapy on daily life. Objectives: To assess patient-reported outcomes (PROs) in patients with psoriasis receiving etanercept therapy. Methods: In this multinational, randomized, phase III trial, patients with psoriasis received placebo (n = 193), etanercept 50 mg per week (n = 196) or etanercept 50 mg twice weekly (n = 194) during the initial 12-week, double-blind period. Thereafter, all patients received open-label etanercept (50 mg per week). The following PROs were assessed: Dermatology Life Quality Index (DLQI), Short Form- 36 Health Survey (SF- 36) , patient rating of pruritus, and patient global assessment of psoriasis. Results: At week 12, DLQI total score improved by 65- 70% in patients receiving etanercept compared with 6% in patients receiving placebo (P< 0.0001), and improvement in DLQI was clinically meaningful (> 5-point improvement or 0 score) for 72- 77% of patients receiving etanercept therapy. All DLQI and SF- 36 subscales and the SF- 36 physical and mental component summary scores demonstrated significantly greater improvement with etanercept therapy than with placebo, illustrating that etanercept benefits patients with psoriasis across multiple domains that contribute to health-related quality of life. With etanercept therapy, distributions of patient ratings of pruritus and global assessment of disease shifted from moderate to severe (baseline) to minimal to good (week 12). Etanercept-induced benefits of PROs were maintained for patients who reduced their dose after 12 weeks. Conclusions: Etanercept therapy improves PROs in patients with psoriasis and makes a meaningful difference to their lives. These results support the efficacy profile of physician reported clinical measures while providing a more complete understanding of the benefits experienced by patients with psoriasis treated with etanercept.展开更多
Background: Dermatologists’ assessments of how their patients’ lives are affected by the skin disease are of importance for informing clinical decisions. However, there is no information about how often quality of l...Background: Dermatologists’ assessments of how their patients’ lives are affected by the skin disease are of importance for informing clinical decisions. However, there is no information about how often quality of life (QoL) issues are discussed in outpatient consultations. Objective: To examine the relationship between the extent of QoL- related discussion during dermatology outpatient consultations, and the current impact of the disease on patients’ lives. Patients and methods: A total of 238 consultations were observed in a teaching dermatology outpatient department for QoL- related discussion initiated by either the clinician or the patient. Following the consultation, all patients were posted a Dermatology Life Quality Index (DLQI) questionnaire to complete and return within 1 week. Results: QoL discussion was absent in 40% of consultations. Consultants initiated the fewest QoL discussions with patients, and nurses the most (P < 0.0001). One hundred and twentyeight (54% ) patients returned the DLQI, 114 (48% ) of which were evaluable. The mean score was 5.6, SD ± 6.6, median 3, range 0- 29. The mean DLQI score for the patients with whom there was no QoL discussion was 4.0 ± 4.7, n = 55, compared with the mean DLQI score for patients with whom QoL was discussed 6.8 ± 7.2, n = 59 (P < 0.001). Conclusion: This study demonstrates that little information concerning QoL is elicited during dermatology outpatient consultations.展开更多
Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. ...Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. We report a 15- yearold boy with Netherton’ s syndrome who developed CD30+ PCTCLD 6 years following a cardiac transplantation.展开更多
A patient with elevated levels of serum IgA developed purpuric lesions histologically resembling Henoch- Sch nlein purpura brought on by consuming alcohol. Alcohol challenge with 5 units of alcohol reproduced the le...A patient with elevated levels of serum IgA developed purpuric lesions histologically resembling Henoch- Sch nlein purpura brought on by consuming alcohol. Alcohol challenge with 5 units of alcohol reproduced the lesions, with a rapid rise of circulating CD4+ and CD8+ T cells followed by a fall of serum IgA and C3 concentration. The skin lesions and serum abnormalities resolved spontaneously within 6 weeks of the alcohol challenge.展开更多
文摘Background: Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of patients. Objectives: To document the clinical features of EPP and its impact on QoL in a high proportion of all patients with EPP resident in the U.K.Methods: Patients with EPP were identified fromU.K. clinical databases and assessed by the same clinical investigator over a 7-month period using a standardized proforma and validated adult (Dermatology Life Quality Index, DLQI) and children’s (Children’sDermatology Life Quality Index, CDLQI) QoL questionnaires. Results: Three hundred and eighty-nine living patients with EPP were identified, of whom 223 [114 females, 109 males; median age 34 years (range: 5-87), from 193 families] were investigated. Total erythrocyte porphyrin (TEP) was higher in males (median: 25.3 μmol L-1)-than females (median: 19.3 μmol L-1). The median ages at onset and diagnosis were 1 and 12 years, respectively. Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively. Most patients reported absence of protection by glass (92%), priming (85%), exacerbation by wind (68%), no family history of photosensitivity (56%), no symptoms during winter (56%) and had chronic skin lesions (79%). Symptoms changed little with age but improved during pregnancy in 47%of gravid women. Most patients used protective clothing and a sunscreen; 28%were taking β-carotene and a further 56%had taken it; 29%were not under regular medical care. Two patients (1%) had liver failure and 8%reported gallstone disease. QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14.0, n = 176; mean CDLQI score 12.8, n = 44), indicating a large effect on patients’lives. DLQI scores correlated weakly with TEP (rs = 0.228; P = 0.002) and time to onset of symptoms (rs = -0.233; P = 0.002) but not with age at onset. Conclusions: EPP is a persistent, severely painful, socially disabling disease with amarked impact on QoL. Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients.
文摘Background: Over the last three decades, the oral retinoids etretinate and acitretin have revolutionized the treatment of disorders of keratinization (DOK). Many patients with DOK require life-long treatment with oral retinoids. However, the longest follow-up data of patients with DOK on oral retinoid therapy is 10 years for adults and up to 11 years for children. Objectives: The aim of our study was to collect long-term retrospective data including disease response, side-effects and pregnancy outcome in a cohort of patients with DOK who were among the first in the world to commence oral retinoids 25 years ago. Methods: Between 1979 and 1981, 30 patients with DOK were commenced on oral etretinate in our department. Case notes of these patients were reviewed retrospectively, and patients interviewed where possible to obtain the following information: diagnosis, age when treatment commenced, duration of treatment, reason for discontinuation of therapy, side-effects, abnormal investigation results and pregnancy outcomes. Results: Case notes of 23 of the 30 patients were available for review; of these, two patients were deceased and 14 were interviewed. In the 23 patients, the mean age of commencing treatment was 33.5 years (range 4.2-61) and the mean duration of etretinate therapy was 5.2 years (range 1 month to 14 years). Reasons for discontinuing treatment were an overall improvement in the skin disease (six of 23), no benefit ±side effects (11 of 23) and noncompliance (one of 23). Two patients died of causes unrelated to their skin disease or treatment, 12 and 4 years after stopping etretinate. Five patients (one female, four males) subsequently changed to acitretin and are currently continuing therapy. The mean total duration of retinoid therapy (etretinate and acitretin) for the four males was 23.7 years (range 20.6-25.1). The female patient continued intermittent courses (due to planned pregnancies) of oral retinoids for a total of 10.1 years over the last 25 years. Abnormal investigation results included elevated serum triglycerides and cholesterol (two of 23), isolated high triglycerides (three of 23), isolated high cholesterol (three of 23), worsening of liver enzymes in a patient with alcohol dependence, and elevated serum alkaline phosphatase (ALP) in healthy adults (three of 23). In two children, the elevated pretreatment ALP levels increased further after commencing etretinate but returned to normal in adulthood while treatment continued. One patient developed diffuse idiopathic skeletal hyperostosis after 21 years of retinoid therapy. One female patient had two early spontaneous abortions 2.75 and 3.2 years after discontinuing etretinate; she subsequently had two normal children. Two other females had normal children 1, 3 and 5 years after stopping etretinate. Two male patients fathered a total of three healthy children while on etretinate. Conclusions: This study provides the longest available follow-up data of children and adults with DOK on oral retinoid therapy. Such information is essential for clinicians and their patients with DOK embarking on life long treatment with retinoids.
文摘Background: Etanercept, a soluble tumour necrosis factor receptor, lessens the severity of psoriasis as measured by physician-reported clinical outcomes. Equally important is the patient perspective on the effect of etanercept therapy on daily life. Objectives: To assess patient-reported outcomes (PROs) in patients with psoriasis receiving etanercept therapy. Methods: In this multinational, randomized, phase III trial, patients with psoriasis received placebo (n = 193), etanercept 50 mg per week (n = 196) or etanercept 50 mg twice weekly (n = 194) during the initial 12-week, double-blind period. Thereafter, all patients received open-label etanercept (50 mg per week). The following PROs were assessed: Dermatology Life Quality Index (DLQI), Short Form- 36 Health Survey (SF- 36) , patient rating of pruritus, and patient global assessment of psoriasis. Results: At week 12, DLQI total score improved by 65- 70% in patients receiving etanercept compared with 6% in patients receiving placebo (P< 0.0001), and improvement in DLQI was clinically meaningful (> 5-point improvement or 0 score) for 72- 77% of patients receiving etanercept therapy. All DLQI and SF- 36 subscales and the SF- 36 physical and mental component summary scores demonstrated significantly greater improvement with etanercept therapy than with placebo, illustrating that etanercept benefits patients with psoriasis across multiple domains that contribute to health-related quality of life. With etanercept therapy, distributions of patient ratings of pruritus and global assessment of disease shifted from moderate to severe (baseline) to minimal to good (week 12). Etanercept-induced benefits of PROs were maintained for patients who reduced their dose after 12 weeks. Conclusions: Etanercept therapy improves PROs in patients with psoriasis and makes a meaningful difference to their lives. These results support the efficacy profile of physician reported clinical measures while providing a more complete understanding of the benefits experienced by patients with psoriasis treated with etanercept.
文摘Background: Dermatologists’ assessments of how their patients’ lives are affected by the skin disease are of importance for informing clinical decisions. However, there is no information about how often quality of life (QoL) issues are discussed in outpatient consultations. Objective: To examine the relationship between the extent of QoL- related discussion during dermatology outpatient consultations, and the current impact of the disease on patients’ lives. Patients and methods: A total of 238 consultations were observed in a teaching dermatology outpatient department for QoL- related discussion initiated by either the clinician or the patient. Following the consultation, all patients were posted a Dermatology Life Quality Index (DLQI) questionnaire to complete and return within 1 week. Results: QoL discussion was absent in 40% of consultations. Consultants initiated the fewest QoL discussions with patients, and nurses the most (P < 0.0001). One hundred and twentyeight (54% ) patients returned the DLQI, 114 (48% ) of which were evaluable. The mean score was 5.6, SD ± 6.6, median 3, range 0- 29. The mean DLQI score for the patients with whom there was no QoL discussion was 4.0 ± 4.7, n = 55, compared with the mean DLQI score for patients with whom QoL was discussed 6.8 ± 7.2, n = 59 (P < 0.001). Conclusion: This study demonstrates that little information concerning QoL is elicited during dermatology outpatient consultations.
文摘Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. We report a 15- yearold boy with Netherton’ s syndrome who developed CD30+ PCTCLD 6 years following a cardiac transplantation.
文摘A patient with elevated levels of serum IgA developed purpuric lesions histologically resembling Henoch- Sch nlein purpura brought on by consuming alcohol. Alcohol challenge with 5 units of alcohol reproduced the lesions, with a rapid rise of circulating CD4+ and CD8+ T cells followed by a fall of serum IgA and C3 concentration. The skin lesions and serum abnormalities resolved spontaneously within 6 weeks of the alcohol challenge.
