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Anhidrosis, characterized by the partial or total reduction in sweat production, is a relevant condition in equines living in tropical climates, particularly those engaged in physical activity. This study evaluated the prevalence of anhidrosis in Quarter Horses used in the vaquejada sport, utilizing the semi-quantitative sweat test with terbutaline sulfate. Sixty Quarter Horses of both sexes, actively competing, were included in the study. The experimental procedure involved the intradermal application of a saline control solution and seven serial dilutions of terbutaline sulfate, ranging from 100 mg/L to 10-6 mg/L, at predefined points in the cervical region. After solution application, the injection sites were assessed over a minimum of 20 minutes to observe the response to the test. The analysis criterion was based on the intensity of sweating at each concentration, enabling the classification of animals as healthy, partially anhidrotic, or completely anhidrotic. The study revealed a significant prevalence (75%) of partial anhidrosis among Quarter Horses. The results underscore the importance of accurate diagnosis of partial anhidrosis to understand its impact on equine health and performance. RESUMO: A anidrose, caracterizada pela redução parcial ou total da produção de suor é uma condição relevante em equinos em clima tropical, especialmente naqueles sob atividade física. O objetivo deste estudo foi avaliar a prevalência de anidrose em equinos da raça Quarto de Milha utilizados na modalidade vaquejada, utilizando o teste semiquantitativo de sudorese com sulfato de terbutalina. Foram utilizados 60 equinos da raça Quarto de Milha, de ambos os sexos, em plena atividade fisíca. O procedimento experimental consistiu na aplicação intradérmica de uma solução salina controle e sete diluições seriadas de sulfato de terbutalina, variando de 100 mg/L a 10-6 mg/L, em pontos previamente definidos na região cervical. Após a aplicação das soluções, os pontos de injeção foram avaliados durante um período mínimo de 20 minutos para verificar a resposta ao teste. O critério de análise baseou-se na intensidade da sudorese em cada concentração, permitindo a classificação dos animais como saudáveis, com anidrose parcial ou com anidrose completa. O estudo mostrou uma prevalência significativa (75%) de anidrose parcial em equinos da raça Quarto de Milha. Os resultados reforçam a importância de um diagnóstico preciso da anidrose parcial para compreender seus impactos na saúde e desempenho dos equinos.

This case of congenital insensitivity to pain with anhidrosis with a mutation in the NTRK1 gene from Palestine, sheds light on the variability of the disease. The patient's atypical symptoms including blindness, multiple amputations, and a recent spinal abscess causing tenderness provide new perspectives on the wide array of manifestations of this rare syndrome. In this report, we describe the case of a 21-year-old male known to have congenital insensitivity to pain, who presented to the outpatient clinic complaining of fever, restlessness and new onset of back deformity. Further work-up revealed spinal abscess and destruction of multiple vertebrae leading to scoliosis. Treatment involved antibiotics for the spinal abscess, with subsequent resolution and discharge. However, the recurrence of fever prompted additional interventions, including a change in antibiotics and further imaging. Interestingly, the patient's family history showed a hereditary trend with a spectrum of symptoms amongst siblings. The patient displayed symptoms commonly seen in HSAN IV, but did not exhibit intellectual disability, Hypotonia or episodic fever in the absence of an ongoing inflammation. This case demonstrates the complexities of congenital insensitivity to pain with anhidrosis, the possibility of different and unique clinical symptoms that are rarely mentioned in the literature to be associated with certain mutations. •CIPA has variable and complex presentation.•A unique clinical profile of normal cognitive function and presence of pain.•Significant heterogenicity of CIPA course between siblings.•our understanding of CIPA phenotypic spectrum may still be incomplete.

PurposeThe aim of this study was to review the evidence on the epidemiology, physiopathology, categorization, and management of cholinergic urticaria. We specifically focused on several subtypes of cholinergic urticaria and investigated the relationship between cholinergic urticaria and idiopathic anhidrosis.MethodsUsing an integrative approach, we reviewed publications addressing the epidemiology, clinical features, diagnostic approach, physiopathology, subtype classification, and therapeutic approach to cholinergic urticaria.ResultsMultiple mechanisms were found to contribute to the development of cholinergic urticaria. This disorder should be classified based on the pathogenesis and clinical characteristics of each subtype. Such a classification system would lead to better management of this resistant condition. In particular, sweating function should be given more attention when examining patients with cholinergic urticaria.ConclusionsBecause cholinergic urticaria is not a homogeneous disease, its subtype classification is essential for selection of the most suitable therapeutic method.

Acquired idiopathic generalized anhidrosis (AIGA) is a rare disorder characterized by generalized loss of sweating without identifiable causes. Because few biomarkers reflect its underlying mechanisms, diagnosis at the initial visit is often difficult. Although steroid pulse therapy is widely used, approximately half of patients respond insufficiently. We therefore aimed to elucidate the immune mechanisms underlying AIGA and identify potential biomarkers for diagnosis and treatment response. Fourteen patients with AIGA affecting more than 25% of body surface area were enrolled after exclusion of secondary causes of anhidrosis. Serum levels of 40 cytokines and chemokines were quantified using a multiplex assay and correlated with clinical parameters. Skin biopsy specimens were analyzed by histology and immunohistochemistry to characterize inflammatory cell infiltration and identify cellular sources of selected mediators. Inflammatory cell infiltration was consistently observed around sweat ducts, predominantly composed of CD4 T cells. Serum profiling revealed significant elevations of CCL22 and IFN-γ in AIGA compared with healthy controls, with a strong positive correlation between them. Consistently, the downstream chemokine CXCL10 was also increased. Double immunostaining identified CD68 macrophages as the main source of CCL22 in periductal regions. Serum Macrophage migration inhibitory factor (MIF) levels were significantly higher in steroid-resistant cases, whereas MIF expression within sweat ducts was markedly reduced, suggesting disruption of local immune privilege. These findings suggest that AIGA involves a macrophage-CCL22-Th1-IFN-γ inflammatory axis associated with collapse of sweat duct immune privilege. Serum MIF may serve as a potential biomarker for predicting steroid responsiveness.

Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings. Early diagnosis and a multidisciplinary approach help prevent complications like severe injuries, infections, and hyperpyrexia.

Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival. Objective: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. Methodology: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. Results: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. Conclusions: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.

Background: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral structures. This case report describes the oral phenotype and multidisciplinary clinical management of a child with CIPA. Case Description: A 9-year-old boy presented with poor oral hygiene, multiple severely damaged teeth, masticatory difficulty, limited mouth opening, impaired bolus control, and para-oral traumatic injuries. Medical and orthopedic history indicated recurrent painless fractures, self-inflicted injuries, cutaneous scarring, and recurrent hyperpyrexia. Oral self-injury associated with CIPA was suspected and supported by the Nociception Assessment Test and Minor’s Iodine–Starch Test. Although the clinical findings were suggestive of CIPA, the diagnosis remained presumptive due to the absence of confirmatory molecular or histopathological testing. Management: A wearable wireless continuous temperature-monitoring device was prescribed to assist in tracking hyperpyrexia associated with CIPA (RHA-CIPA). A conservative, staged, multidisciplinary treatment was planned rather than full-mouth extraction, emphasizing prevention of dental sepsis and mitigation of future self-injury. Dental procedures were performed under local anesthesia to manage discomfort related to tactile hyperesthesia. To reduce nocturnal biting and oral trauma, a hard acrylic occlusal protector was fabricated using an intraoral scanner and a 3D-printed cast. The patient was followed for 12 months. Outcomes: At the 12-month follow-up, clinical improvement was observed, with particularly notable gains in cheek elasticity and soft tissue resilience. Conclusions: This case highlights the considerable challenges involved in the interdisciplinary management of children with CIPA, including oral self-injury prevention, limited mouth opening, and the necessity of close coordination with medical specialties. These findings are descriptive observations of a single case and do not establish efficacy or generalizability of any intervention.

Background Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by variants in the NTRK1 gene (encoding TrkA). The identification and functional analysis of these variants are essential for elucidating the genetic basis of the disease and improving diagnostic efficiency. In this study, we investigated four unrelated Chinese families with CIPA. Methods We employed next‐generation sequencing to identify the causative genetic variants in 13 individuals (5 affected and 8 unaffected) from four unrelated Chinese families. A comprehensive bioinformatics and in vitro functional analyses were subsequently performed to assess the pathogenicity of the identified variants. Results We identified seven variants in the NTRK1 gene, including two novel variants (c.2285C > A and c.1990₁993delinsTGCT). Functional characterization of five variants (four missense: c.632 T > A, c.1942C > T, c.2122G > A and c.2285C > A; and one indel: c.1990₁993delinsTGCT) revealed that they disrupted distinct steps within the nerve growth factor (NGF)‐TrkA pathway, including TrkA glycosylation and phosphorylation, NGF‐TrkA binding, and downstream signaling pathway. Conclusions Our findings expand the mutational spectrum of NTRK1 with two novel variants associated with CIPA and delineate the specific step(s) within the NGF‐TrkA pathway affected by each variant, thereby establishing a link between genotype and the observed phenotypic severity. This study provides a crucial theoretical and experimental foundation for the future development of personalized therapies for CIPA patients. This study investigates four Chinese families with congenital insensitivity to pain with anhidrosis (CIPA). Through next‐generation sequencing, we identified seven NTRK1 variants, including two novel mutations. Functional characterization of five identified missense and indel variants revealed distinct disruptions in the NGF‐TrkA pathway, ranging from impaired glycosylation and autophosphorylation to defective NGF binding and downstream signaling, establishing clear genotype–phenotype correlations. These findings expand the mutational spectrum of NTRK1 and provide a foundation for personalized therapies in CIPA.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder whose core clinical features consist of no response to noxious stimuli and inability to sweat under any conditions. Our goal was to characterize the details of phenotypic and genotypic features in Chinese CIPA patients. Personal data and clinical information were investigated by interview and physical examination. DNA was extracted from blood samples of patients and their available familial members and subjected to genetic analysis. A total of 41 Han Chinese CIPA patients from 35 unrelated families were recruited. The distribution of patients was mainly in the central and southern regions of China, with a male to female ratio of 3:1 and a mortality rate of 7.3%. Heterogeneity of clinical features, including pain insensitivity, temperature sensation, and complications, were cataloged. Interestingly, some patients had \"visceral pain\" sensation, and there was a significant difference in temperature perception and thermal pain between individuals. The incidence of bone and joint fractures was 49%. The characteristics of 19 mutations of in 41 patients, with five novel mutations, were identified. More than 63% of patients had the splice mutation, c.851-33 T>A, which strongly suggests that it may be a common pathogenic site in Han Chinese patients. Current findings expand our knowledge about the spectrum of phenotypic features and the racial characteristics of mutations of CIPA patients in the Han Chinese population.

Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inherited in an autosomal recessive manner. We report a case of this very rare genetic disease in a 3-year-old girl child, born to a family in north India with ocular features of neurotrophic keratitis. The diagnosis was made clinically based on the hallmark features of insensitivity to pain and temperature, anhidrosis, self-mutilating behavior with multiple recurrent oral ulcers, nasal bleeds, multiple trophic ulcers over joints, and decreased intellect.