Introduction:Langerhans cell histiocytosis(LCH),the most common histiocytic disorder,characterized by the abnormal over production of histiocytes that tend to infiltrate single or multiple organ systems leading to sig...Introduction:Langerhans cell histiocytosis(LCH),the most common histiocytic disorder,characterized by the abnormal over production of histiocytes that tend to infiltrate single or multiple organ systems leading to significant tissue damage.Case presentation:We describe a 23-year-old man suffering from central diabetes insipidus,"hemorrhoids",progressive hearing loss and a surge in weight.Physical examination revealed lesion involvement of the skin and mucous membranes,including the perianal area,gingiva,and external auditory canal.He was diagnosed as LCH,who achieved remission following a chemotherapy regimen.Discussion:LCH is common in children,but it is not surprising to see it in adults.The clinical manifestations of LCH are highly variable and may involve multiple organs and systems.While,skin involvement is the most obvious symptom,and dermatologists should be familiar with it.Chemotherapy is the first-line treatment for multisystem or multifocal single system adult LCH.Conclusion:Characteristic features of LCH involving the perianal area was described in this case which helped the dermatologist to make quick judgments.We also emphasize that a global concept should be established confronting with a patient with multiple complaints.展开更多
Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves ...Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS.The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.展开更多
文摘Introduction:Langerhans cell histiocytosis(LCH),the most common histiocytic disorder,characterized by the abnormal over production of histiocytes that tend to infiltrate single or multiple organ systems leading to significant tissue damage.Case presentation:We describe a 23-year-old man suffering from central diabetes insipidus,"hemorrhoids",progressive hearing loss and a surge in weight.Physical examination revealed lesion involvement of the skin and mucous membranes,including the perianal area,gingiva,and external auditory canal.He was diagnosed as LCH,who achieved remission following a chemotherapy regimen.Discussion:LCH is common in children,but it is not surprising to see it in adults.The clinical manifestations of LCH are highly variable and may involve multiple organs and systems.While,skin involvement is the most obvious symptom,and dermatologists should be familiar with it.Chemotherapy is the first-line treatment for multisystem or multifocal single system adult LCH.Conclusion:Characteristic features of LCH involving the perianal area was described in this case which helped the dermatologist to make quick judgments.We also emphasize that a global concept should be established confronting with a patient with multiple complaints.
文摘Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS.The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.
