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PloS One 2021Persistent symptoms attributed to presumed tick-bite exposure constitute an unresolved medical controversy. We evaluated whether Swedish adults who met the criteria for...
BACKGROUND
Persistent symptoms attributed to presumed tick-bite exposure constitute an unresolved medical controversy. We evaluated whether Swedish adults who met the criteria for post-treatment Lyme disease syndrome (PTLDS) exhibited characteristics distinguishable from adults who did not, but who displayed similar symptoms and disease course after suspected previous tick-bite infection (TBI).
METHODS AND FINDINGS
During 2015-2018, 255 patients-referred to the Centre for Vector-borne Infections, Uppsala University Hospital, Sweden with symptoms lasting longer than six months-were recruited. Of this group, 224 completed the study. Each patient was examined by an infectious disease specialist and, besides a full medical history, underwent a panel of blood and cerebrospinal fluid laboratory tests including hematological, biochemical, microbiological and immunological analyses, and the RAND-36 scale to measure quality of life. For analysis purposes, patients were divided into five subgroups, of which one represented PTLDS. According to serological results indicating TBI and documented/ reported objective signs of Lyme disease, 85 (38%) patients fulfilled the criteria for PTLDS and were compared with the other 139 (62%) serologically classified patients. In the PTLDS group, erythema chronicum migrans (ECM) was documented/reported in 86% of patients, previous neuroborreliosis in 15%, and acrodermatitis chronica atroficans (ACA) in 3.5%. However, there were no significant differences regarding symptoms, laboratory results or disease course between patients with PTLDS and those without laboratory evidence of Borrelia exposition. Most reported symptoms were fatigue-related (70%), musculoskeletal (79%), neurological (82%) and neurocognitive (57%). Tick bites were recalled by 74%. The RAND-36 score was significantly below that of the general Swedish population. Signs of immunological/inflammatory reactivity with myositis antibodies were detected in 20% of patients, fibrinogen levels were moderately increased in 21% and elevated rheumatoid factor in 6%.
CONCLUSIONS
The PTLDS group did not differ exclusively in any respect from the other subgroups, which either lacked previously documented/reported evidence of borreliosis or even lacked detectable serological signs of exposure to Lyme disease. The results suggest that symptoms often categorized as Chronic-Lyme-Disease (CLD) in the general debate, cannot be uniquely linked to Lyme disease. However, approximately 20% of the total group of patients showed signs of autoimmunity. Further studies are needed to elucidate the underlying causes and mechanisms of PTLDS and there is reason to consider a multifactorial approach.
Topics: Acrodermatitis; Adult; Animals; Bites and Stings; Erythema Chronicum Migrans; Fatigue; Female; Humans; Lyme Disease; Lyme Neuroborreliosis; Male; Middle Aged; Post-Lyme Disease Syndrome; Quality of Life; Sweden; Tick Bites; Tick-Borne Diseases; Ticks
PubMed: 33735220
DOI: 10.1371/journal.pone.0247384 -
Ticks and Tick-borne Diseases Jan 2021To provide better care for patients suspected of having a tick-transmitted infection, the Clinic for Tick-borne Diseases at Rigshospitalet, Copenhagen, Denmark was...
To provide better care for patients suspected of having a tick-transmitted infection, the Clinic for Tick-borne Diseases at Rigshospitalet, Copenhagen, Denmark was established. The aim of this prospective cohort study was to evaluate diagnostic outcome and to characterize demographics and clinical presentations of patients referred between the 1st of September 2017 to 31st of August 2019. A diagnosis of Lyme borreliosis was based on medical history, symptoms, serology and cerebrospinal fluid analysis. The patients were classified as definite Lyme borreliosis, possible Lyme borreliosis or post-treatment Lyme disease syndrome. Antibiotic treatment of Lyme borreliosis manifestations was initiated in accordance with the national guidelines. Patients not fulfilling the criteria of Lyme borreliosis were further investigated and discussed with an interdisciplinary team consisting of specialists from relevant specialties, according to individual clinical presentation and symptoms. Clinical information and demographics were registered and managed in a database. A total of 215 patients were included in the study period. Median age was 51 years (range 17-83 years), and 56 % were female. Definite Lyme borreliosis was diagnosed in 45 patients, of which 20 patients had erythema migrans, 14 patients had definite Lyme neuroborreliosis, six had acrodermatitis chronica atrophicans, four had multiple erythema migrans and one had Lyme carditis. Furthermore, 12 patients were classified as possible Lyme borreliosis and 12 patients as post-treatment Lyme disease syndrome. A total of 146 patients (68 %) did not fulfil the diagnostic criteria of Lyme borreliosis. Half of these patients (73 patients, 34 %) were diagnosed with an alternative diagnosis including inflammatory diseases, cancer diseases and two patients with a tick-associated disease other than Lyme borreliosis. A total of 73 patients (34 %) were discharged without sign of somatic disease. Lyme borreliosis patients had a shorter duration of symptoms prior to the first hospital encounter compared to patients discharged without a specific diagnosis (p<0.001). When comparing symptoms at presentation, patients discharged without a specific diagnosis suffered more often from general fatigue and cognitive dysfunction. In conclusion, 66 % of all referred patients were given a specific diagnosis after ended outpatient course. A total of 32 % was diagnosed with either definite Lyme borreliosis, possible Lyme borreliosis or post-treatment Lyme disease syndrome; 34 % was diagnosed with a non-tick-associated diagnosis. Our findings underscore the complexity in diagnosing Lyme borreliosis and the importance of ruling out other diseases through careful examination.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Denmark; Female; Humans; Lyme Disease; Male; Middle Aged; Prevalence; Prospective Studies; Tick-Borne Diseases; Young Adult
PubMed: 33126203
DOI: 10.1016/j.ttbdis.2020.101591 -
BMC Pediatrics May 2024Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with...
Analysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant.
BACKGROUND
Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with low birthweight infants. Its clinical manefestations are similar to Acrodermatitis enteropathica (AE), which is a genetic zinc absorption disorder caused by SLC39A4 gene mutations. This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. TSZD is often misdiagnosed as AE because of their extremely similar manefestations, characterized by a typical rash. Therefore, the differention between them is still a clinical challenging.
CASE PRESENTATION
Here, we present a case of TSZD in a 4 month and 23 days female Chinese Yi-ethnic premature with AE-like skin lesions, mainly presenting periorificial, perianal and perineal crusted, eroded, erythemato-squamous eruption. Laboratory examination showed the patient's blood zinc level was significantly decreased. Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
CONCLUSIONS
The clinical manifestations of TSZD and AE are extremely similar, leading to a high rate of clinical misdiagnosis. While genetic analysis of the SLC39A4 gene is a reliable method for differentiating TSZD from AE. It is recommended that SLC39A4 gene test should be performed as far as possible in children with AE-like rash.
Topics: Humans; Zinc; Acrodermatitis; Female; Infant; Diagnosis, Differential; China; Cation Transport Proteins; Infant, Premature; Infant, Newborn; Infant, Premature, Diseases; East Asian People
PubMed: 38755601
DOI: 10.1186/s12887-024-04830-y -
Indian Dermatology Online Journal 2023
PubMed: 36776177
DOI: 10.4103/idoj.idoj_312_22 -
CMAJ : Canadian Medical Association... Feb 2021
Topics: Acrodermatitis; Diagnosis, Differential; Dietary Supplements; Humans; Infant; Male; Zinc
PubMed: 33593949
DOI: 10.1503/cmaj.201181 -
Oman Medical Journal Mar 2022
PubMed: 35356373
DOI: 10.5001/omj.2022.51 -
Dermatology Practical & Conceptual Jan 2021The International Dermoscopy Society (IDS) conducted an online survey to investigate the impact of coronavirus disease 2019 (COVID-19) outbreak on the daily practice of...
INTRODUCTION
The International Dermoscopy Society (IDS) conducted an online survey to investigate the impact of coronavirus disease 2019 (COVID-19) outbreak on the daily practice of dermatologists working with skin cancer patients, to collect data regarding the frequency of skin manifestations noticed by the members, and to obtain information about the use of teledermatology during the pandemic.
METHODS
All IDS members were asked to fill in a questionnaire, sent by email. A questionnaire available in English was sent to all IDS members (≈16.0000 members) by email. The questionnaire was anonymous, with a compiling time of less than 5 minutes. The survey was open for 30 days (from April 24, 2020 to May 24, 2020) and it could only be filled out once.
RESULTS
Overall, 678 dermatologists responded to the questionnaire; 334 members stated that there has been a reduction of more than 75% in daily work activity during the pandemic, 265 dermatologists worked fewer days per week, and 118 experienced telemedicine for the first time. Acrodermatitis was the most frequently observed skin manifestation (n = 80) followed by urticarial rash (n = 69), morbilliform rash (n = 53) and purpuric manifestation (n = 40). In regard to the role of teledermatology, 565 dermatologists reported an increased number of teleconsultations, and the number of melanomas diagnosed during the pandemic was practically 0 for 385 (56.78%) of respondents.
CONCLUSION
This survey highlights that the outbreak had a negative impact on most dermatology services, with a significant reduction in consultation time spent for chronic patients, and an increased risk of missed melanoma and nonmelanoma skin cancer (NMSC) diagnosis. Moreover, our study confirms earlier findings of a wide range of skin manifestations associated with COVID-19.
PubMed: 33614221
DOI: 10.5826/dpc.1101a153 -
Journal of Ayub Medical College,... 2022Acrodermatitis Enteropathica is a rare hereditary condition characterized by perioral dermatitis, diarrhoea, and alopecia. Aetiology includes autosomal recessive...
Acrodermatitis Enteropathica is a rare hereditary condition characterized by perioral dermatitis, diarrhoea, and alopecia. Aetiology includes autosomal recessive inheritance and acquired causes such as protein malnutrition, malabsorption syndromes, premature births, parenteral nutrition, chronic illnesses, and alcoholism. We report a rare case of a 12-year-old boy who presented with cutaneous manifestations involving the whole body, diarrhoea, and sparse hairs. A low level of plasma zinc, and alkaline phosphatase level was found, and he was started on zinc supplements. He significantly improved in a few days, and was discharged after counselling the parents about treatment compliance. This case highlights importance of early diagnosis, and the importance of treatment compliance in Acrodermatitis Enteropathica. It also stresses the need to take measures to ensure the provision of health facilities especially in remote areas.
Topics: Male; Humans; Child; COVID-19; Communicable Disease Control; Zinc; Acrodermatitis; Diarrhea
PubMed: 36566420
DOI: 10.55519/JAMC-04-10371 -
Indian Journal of Dermatology 2022Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over...
Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over periorificial and acral areas which at times mimics various hereditary palmoplantar keratodermas (PPK). We reported a 6-year-old boy who presented with hard plaques over both palm and sole, and periorificial areas, and flexion attitude of digits without any history of diarrhea and prolonged illness. The patient improved dramatically with zinc supplementation including correction of flexion deformities of the fingers. There was improvement of serum alkaline phosphatase level within 3 months. The lesions reappeared again whenever there was discontinuation of therapy for few weeks, thus confirming it to be zinc deficiency dermatoses. This kind of manifestation has rarely been described in earlier literature.
PubMed: 36386094
DOI: 10.4103/ijd.IJD_112_17 -
The Journal of Biological Chemistry 2021ZIP4 is a representative member of the Zrt-/Irt-like protein (ZIP) transporter family and responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4...
ZIP4 is a representative member of the Zrt-/Irt-like protein (ZIP) transporter family and responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4 (hZIP4) drastically reduce zinc absorption, causing a life-threatening autosomal recessive disorder, acrodermatitis enteropathica (AE). These mutations occur not only in the conserved transmembrane zinc transport machinery, but also in the extracellular domain (ECD) of hZIP4, which is only present in a fraction of mammalian ZIPs. How these AE-causing ECD mutations lead to ZIP4 malfunction has not be fully clarified. In this work, we characterized all seven confirmed AE-causing missense mutations in hZIP4-ECD and found that the variants exhibited completely abolished zinc transport activity in a cell-based transport assay. Although the variants were able to be expressed in HEK293T cells, they failed to traffic to the cell surface and were largely retained in the ER with immature glycosylation. When the corresponding mutations were introduced in the ECD of ZIP4 from Pteropus Alecto, a close homolog of hZIP4, the variants exhibited structural defects or reduced thermal stability, which likely accounts for intracellular mistrafficking of the AE-associated variants and as such a total loss of zinc uptake activity. This work provides a molecular pathogenic mechanism for AE.
Topics: Acrodermatitis; Amino Acid Sequence; Carrier Proteins; Cation Transport Proteins; Cell Membrane; HEK293 Cells; Humans; Loss of Function Mutation; Zinc
PubMed: 33837739
DOI: 10.1016/j.jbc.2021.100269