BACKGROUND Hereditary spherocytosis(HS)is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects.Dubin–Johnson syndrome(DJS),which commonly results in jaundice,is a benign heredi...BACKGROUND Hereditary spherocytosis(HS)is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects.Dubin–Johnson syndrome(DJS),which commonly results in jaundice,is a benign hereditary disorder of bilirubin clearance that occurs only rarely.The co-occurrence of HS and DJS is extremely rare.We recently diagnosed and treated a case of co-occurring HS and DJS.CASE SUMMARY A 21-year-old female patient presented to our department because of severe jaundice,severe splenomegaly,and mild anemia since birth.We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing(NGS).The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.CONCLUSION The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.展开更多
Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characteriz...Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characterized by biphasic,predominantly conjugatedhyperbilirubinemia with no progression to end-stage liver disease.The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24.Clinical onset of the syndrome is most often seen in the late teens or early adulthood.In this report,we describe a case of previously unrecognized Dubin-Johnson syndrome caused by two novel pathogenic mutations (c.2360_2366delCCCTGTC and c.3258+1G>A),coinciding with cholestatic liver disease in an 82-year-old male patient.The patient,suffering from advanced atherosclerosis with serious involvement of coronary arteries,developed colorectal cancer with nodal metastases.The subsequent findings do not support the protective role of Dubin-Johnson type hyperbilirubinemia.展开更多
Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to t...Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to two different antiepileptic drugs, oxcarbazepine（OXC） and phenobabital（PB）. In addition, we genotyped HLA-B 1511 in a case of CBZ-induced SJS with genotype negative for HLA-B 1502. The presence of HLA-B 1502 was determined using polymerase chain reaction with sequence-specific primers（PCR-SSP）. Moreover, we genotyped HLA-B 1502 in 17 cases of antiepileptic drugs（AEDs）-induced cutaneous adverse drug reactions（cADRs）, in comparison with AEDs-tolerant（n=32） and normal controls（n=38） in the central region of China. The data showed that HLA-B 1502 was positive in 5 of 6 cases of AEDs-induced SJS（4 CBZ, 1 OXC and 1 PB）, which was significantly more frequent than AEDs-tolerant（2/32, 18 CBZ, 6 PB and 8 OXC） and normal controls（3/38）. Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B 1502 with AEDs-induced SJS was 6.25（95% CI： 1.06–36.74） and 4.86（95% CI： 1.01–23.47）. The sensitivity and specificity of HLA-B 1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B 1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B 1502 was not found in 11 children with maculopapular exanthema（MPE）（n=9） and hypersensitivity syndrome（HSS）（n=2）. However, we also found one case of CBZ-induced SJS who was negative for HLA-B 1502 but carried HLA-B 1511. It was suggested that the association between the CBZ-induced SJS and HLA-B 1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B 1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B 1502.展开更多
BACKGROUND: Dubin-Johnson syndrome (DJS) is a rare clinical entity. We describe a case of DJS complicated by systemic lupus erythematosus (SLE). METHODS: A case of congenital hyperbilirubinemia with SLE was evaluated ...BACKGROUND: Dubin-Johnson syndrome (DJS) is a rare clinical entity. We describe a case of DJS complicated by systemic lupus erythematosus (SLE). METHODS: A case of congenital hyperbilirubinemia with SLE was evaluated systematically including review of history, physical examination for the stigmata of chronic liver disease, and other investigations. RESULT: Liver biopsy revealed a black liver with preserved architecture suggestive of DJS. CONCLUSIONS: SLE may develop in DJS. The relationship between DJS and SLE in this case is most likely a chance occurrence.展开更多
Stevens-Johnson syndrome(SJS) or toxic epidermal necrolysis(TEN) is a severe adverse drug reaction associated with involvement of skin and mucosal membranes, and carries significant risk of mortality and morbidity. Mu...Stevens-Johnson syndrome(SJS) or toxic epidermal necrolysis(TEN) is a severe adverse drug reaction associated with involvement of skin and mucosal membranes, and carries significant risk of mortality and morbidity. Mucus membrane lesions usually involve the oral cavity, lips, bulbar conjunctiva and the anogenitalia. The oral/anal mucosa and liver are commonly involved in SJS or TEN. However, intestinal involvement is distinctly rare. We herein review the current literature regarding the gastrointestinal involvement in SJS or TEN. This review focuses mainly on the small bowel and colonic involvement in patients with SJS or TEN.展开更多
Severe cutaneous hypersensitivity reactions to anti-tuberculosis medication are rare and have been attributed mainly to thiacetazone. A case of streptomycin-induced Steven-Johnson Syndrome in a patient with TB-HIV co-...Severe cutaneous hypersensitivity reactions to anti-tuberculosis medication are rare and have been attributed mainly to thiacetazone. A case of streptomycin-induced Steven-Johnson Syndrome in a patient with TB-HIV co-infection which ended in death is reported.展开更多
Background: Immune checkpoints inhibitors (ICIs) are widely used in various therapy of tumors. With the increasing usage of them, immune-related adverse events (irAEs) have been known and become common events, especia...Background: Immune checkpoints inhibitors (ICIs) are widely used in various therapy of tumors. With the increasing usage of them, immune-related adverse events (irAEs) have been known and become common events, especially in the dermatologic system. However, the rare and severe immune-related cutaneous adverse events (irCAEs) still lack enough knowledge. Case presentation: We described a rare case of Steven-Johnson syndrome (SJS) induced by pembrolizumab in an advanced squamous non-small cell lung cancer (NSCLC) patient. SJS is a rare irCAE that could happen at any time after immunotherapy while this case happened from the 3rd day. The patient had influence-like symptoms and several mucous lesions including oral, eye, and skin. With a gradually severer condition, a stoss therapy of intravenous immunoglobulin (IVIG) had a mild effect. It was a long process and failed to respond to usual dermatologic treatment. Conclusion: We share this case in order to enhance clinicians’ ability to early recognition and diagnosis in severe irCAEs. Early recognition and appropriate management are important to evade the termination of immunotherapy. Such severe irCAE should be paid more attention to in clinical medicine when using ICIs.展开更多
Introduction: Stevens Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are adverse reaction to drugs whose manifestation affect the skin and mucous membranes whose outcomes may be life threatening and fatal...Introduction: Stevens Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are adverse reaction to drugs whose manifestation affect the skin and mucous membranes whose outcomes may be life threatening and fatal. Supportive management has been proven to be the mainstay with well executed nursing care resulting in quality clinical outcomes. The aim was to evaluate the nursing care interventions in management of patients with SJS/TEN in the dermatology unit. Methods: Qualitative design was used, data were collected through observation of nursing care activities, informant interviews and focus group discussion with the nurses. Qualitative data were recorded in audio tapes and transcribed. Qualitative content analysis was used for the analysis of the transcribed texts. Study was approved by KNH/ERC and informed written consent from participants. Funding was obtained from KNH through the Research and Programs department. Findings: 20 nurses participated in the study. The commonest nursing care interventions were described as routine tasks initiated at clinical diagnosis and routinely performed. They include aggressive skin care, wound care, mucosal and eye care, infection surveillance and prevention practices and general patient monitoring for complications. Skin and wound care were most challenging part of nursing care due to severe erosion or exfoliation. Nurses do not use any specific guidelines of care but consider their role a key in quality outcomes for patients with SJS/TEN in this hospital.展开更多
Dear Sir, I am Dr. Hande Taylan Sekeroglu, from the Ophthalmology Department of Cukurova University Faculty of Medicine. I want to present a case of recalcitrant ocular cicatricial pemphigoid (OCP) which was coinciden...Dear Sir, I am Dr. Hande Taylan Sekeroglu, from the Ophthalmology Department of Cukurova University Faculty of Medicine. I want to present a case of recalcitrant ocular cicatricial pemphigoid (OCP) which was coincidently diagnosed with Stevens展开更多
·AIM:To report a successful osteo-odonto keratoprosthesis(OOKP) procedure in a case of end stage of corneal blindness due to Stevens-Johnson syndrome (SJS).·METHODS:An interventional case report.·RESULT...·AIM:To report a successful osteo-odonto keratoprosthesis(OOKP) procedure in a case of end stage of corneal blindness due to Stevens-Johnson syndrome (SJS).·METHODS:An interventional case report.·RESULTS:We describe a 35-year-old Indian woman,a known case of SJS with bilateral dry eyes and corneal blindness (failed corneal graft with vascularised total corneal opacity in the right eye and non-healing corneal ulcer in the left eye).Vision was hand movement only in both eyes.The corneal ulcer healed with medical treatment resulting in vascularised total corneal opacity with no improvement in vision.OOKP was performed in the right eye and the vision was improved from hand movement to 6/6.The same vision was maintained in the right eye at the last follow-up 5 years after surgery.·CONCLUSION:OOKP provides good visual rehabilitation with long-term anatomically stable prosthesis in patients with end-stage of ocular surface disorders and corneal blindness secondary to SJS.·展开更多
基金Supported by the National Science and Technology Important and Special Project of China,No.2017ZX09304024
文摘BACKGROUND Hereditary spherocytosis(HS)is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects.Dubin–Johnson syndrome(DJS),which commonly results in jaundice,is a benign hereditary disorder of bilirubin clearance that occurs only rarely.The co-occurrence of HS and DJS is extremely rare.We recently diagnosed and treated a case of co-occurring HS and DJS.CASE SUMMARY A 21-year-old female patient presented to our department because of severe jaundice,severe splenomegaly,and mild anemia since birth.We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing(NGS).The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.CONCLUSION The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.
基金Supported by The Project(Ministry of Health,Czech Republic)for Development of Research Organization00023001(IKEM,Prague,Czech Republic)-Institutional supportthe grant SVV-2012-264502
文摘Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characterized by biphasic,predominantly conjugatedhyperbilirubinemia with no progression to end-stage liver disease.The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24.Clinical onset of the syndrome is most often seen in the late teens or early adulthood.In this report,we describe a case of previously unrecognized Dubin-Johnson syndrome caused by two novel pathogenic mutations (c.2360_2366delCCCTGTC and c.3258+1G>A),coinciding with cholestatic liver disease in an 82-year-old male patient.The patient,suffering from advanced atherosclerosis with serious involvement of coronary arteries,developed colorectal cancer with nodal metastases.The subsequent findings do not support the protective role of Dubin-Johnson type hyperbilirubinemia.
基金supported by a grant from Clinical Scientific Research of Wuhan Sanitary Bureau(No.WX11C26)research fund from Janssen Research Council of China(No.JRCC2011-01)
文摘Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to two different antiepileptic drugs, oxcarbazepine（OXC） and phenobabital（PB）. In addition, we genotyped HLA-B 1511 in a case of CBZ-induced SJS with genotype negative for HLA-B 1502. The presence of HLA-B 1502 was determined using polymerase chain reaction with sequence-specific primers（PCR-SSP）. Moreover, we genotyped HLA-B 1502 in 17 cases of antiepileptic drugs（AEDs）-induced cutaneous adverse drug reactions（cADRs）, in comparison with AEDs-tolerant（n=32） and normal controls（n=38） in the central region of China. The data showed that HLA-B 1502 was positive in 5 of 6 cases of AEDs-induced SJS（4 CBZ, 1 OXC and 1 PB）, which was significantly more frequent than AEDs-tolerant（2/32, 18 CBZ, 6 PB and 8 OXC） and normal controls（3/38）. Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B 1502 with AEDs-induced SJS was 6.25（95% CI： 1.06–36.74） and 4.86（95% CI： 1.01–23.47）. The sensitivity and specificity of HLA-B 1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B 1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B 1502 was not found in 11 children with maculopapular exanthema（MPE）（n=9） and hypersensitivity syndrome（HSS）（n=2）. However, we also found one case of CBZ-induced SJS who was negative for HLA-B 1502 but carried HLA-B 1511. It was suggested that the association between the CBZ-induced SJS and HLA-B 1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B 1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B 1502.
文摘BACKGROUND: Dubin-Johnson syndrome (DJS) is a rare clinical entity. We describe a case of DJS complicated by systemic lupus erythematosus (SLE). METHODS: A case of congenital hyperbilirubinemia with SLE was evaluated systematically including review of history, physical examination for the stigmata of chronic liver disease, and other investigations. RESULT: Liver biopsy revealed a black liver with preserved architecture suggestive of DJS. CONCLUSIONS: SLE may develop in DJS. The relationship between DJS and SLE in this case is most likely a chance occurrence.
文摘Stevens-Johnson syndrome(SJS) or toxic epidermal necrolysis(TEN) is a severe adverse drug reaction associated with involvement of skin and mucosal membranes, and carries significant risk of mortality and morbidity. Mucus membrane lesions usually involve the oral cavity, lips, bulbar conjunctiva and the anogenitalia. The oral/anal mucosa and liver are commonly involved in SJS or TEN. However, intestinal involvement is distinctly rare. We herein review the current literature regarding the gastrointestinal involvement in SJS or TEN. This review focuses mainly on the small bowel and colonic involvement in patients with SJS or TEN.
文摘Severe cutaneous hypersensitivity reactions to anti-tuberculosis medication are rare and have been attributed mainly to thiacetazone. A case of streptomycin-induced Steven-Johnson Syndrome in a patient with TB-HIV co-infection which ended in death is reported.
文摘Background: Immune checkpoints inhibitors (ICIs) are widely used in various therapy of tumors. With the increasing usage of them, immune-related adverse events (irAEs) have been known and become common events, especially in the dermatologic system. However, the rare and severe immune-related cutaneous adverse events (irCAEs) still lack enough knowledge. Case presentation: We described a rare case of Steven-Johnson syndrome (SJS) induced by pembrolizumab in an advanced squamous non-small cell lung cancer (NSCLC) patient. SJS is a rare irCAE that could happen at any time after immunotherapy while this case happened from the 3rd day. The patient had influence-like symptoms and several mucous lesions including oral, eye, and skin. With a gradually severer condition, a stoss therapy of intravenous immunoglobulin (IVIG) had a mild effect. It was a long process and failed to respond to usual dermatologic treatment. Conclusion: We share this case in order to enhance clinicians’ ability to early recognition and diagnosis in severe irCAEs. Early recognition and appropriate management are important to evade the termination of immunotherapy. Such severe irCAE should be paid more attention to in clinical medicine when using ICIs.
文摘Introduction: Stevens Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are adverse reaction to drugs whose manifestation affect the skin and mucous membranes whose outcomes may be life threatening and fatal. Supportive management has been proven to be the mainstay with well executed nursing care resulting in quality clinical outcomes. The aim was to evaluate the nursing care interventions in management of patients with SJS/TEN in the dermatology unit. Methods: Qualitative design was used, data were collected through observation of nursing care activities, informant interviews and focus group discussion with the nurses. Qualitative data were recorded in audio tapes and transcribed. Qualitative content analysis was used for the analysis of the transcribed texts. Study was approved by KNH/ERC and informed written consent from participants. Funding was obtained from KNH through the Research and Programs department. Findings: 20 nurses participated in the study. The commonest nursing care interventions were described as routine tasks initiated at clinical diagnosis and routinely performed. They include aggressive skin care, wound care, mucosal and eye care, infection surveillance and prevention practices and general patient monitoring for complications. Skin and wound care were most challenging part of nursing care due to severe erosion or exfoliation. Nurses do not use any specific guidelines of care but consider their role a key in quality outcomes for patients with SJS/TEN in this hospital.
文摘Dear Sir, I am Dr. Hande Taylan Sekeroglu, from the Ophthalmology Department of Cukurova University Faculty of Medicine. I want to present a case of recalcitrant ocular cicatricial pemphigoid (OCP) which was coincidently diagnosed with Stevens
文摘·AIM:To report a successful osteo-odonto keratoprosthesis(OOKP) procedure in a case of end stage of corneal blindness due to Stevens-Johnson syndrome (SJS).·METHODS:An interventional case report.·RESULTS:We describe a 35-year-old Indian woman,a known case of SJS with bilateral dry eyes and corneal blindness (failed corneal graft with vascularised total corneal opacity in the right eye and non-healing corneal ulcer in the left eye).Vision was hand movement only in both eyes.The corneal ulcer healed with medical treatment resulting in vascularised total corneal opacity with no improvement in vision.OOKP was performed in the right eye and the vision was improved from hand movement to 6/6.The same vision was maintained in the right eye at the last follow-up 5 years after surgery.·CONCLUSION:OOKP provides good visual rehabilitation with long-term anatomically stable prosthesis in patients with end-stage of ocular surface disorders and corneal blindness secondary to SJS.·
