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Systematised naevus sebaceus caused by post-zygotic mutation throughout HRAS.
It should be noted that adolescents with GD spectrum rarely develop persistent transsexuality. Modulations from developmental psychology, psychotherapy, family dynamics, hormonal treatment, and the removal of JGCT in the presented case may have potential therapeutic implications for GD.Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare low-grade sweat gland carcinoma characterized by immunoexpression of neuroendocrine markers and mucin production. It occurs most frequently at the head and neck region with strong predilection to the eyelids. Up to 2013, only few cases have been reported. However, in the following years, the number of cases reported has increased significantly, which indicates an upsurge in awareness and increased recognition of this neoplasm. Herein, we describe another case of EMPSGC in a 78-year-old man who presented with a 6-mm skin lesion at the lower eyelid. We discuss the clinical, histopathologic and immunophenotypic features of the tumor with particular emphasis on molecular features and prognosis.Cutaneous myiasis is an infestation of the skin by fly larvae, which usually occurs in adults. We present a case of cutaneous myiasis caused by Chrysomya megacephalain a 3-month-old infant with psoriasis vulgaris. In this case report, we highlight the clinical, histopathologic, taxonomic identification, and treatment of cutaneous myiasis occurring in psoriatic skin.Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SERPINB7 is reported to underlie the condition. Though many case reports/series have demonstrated various mutations in SERPINB7, the genotype-phenotype correlation in this disorder is still lacking. We herein report two brothers with NPPK. Both patients were found to be compound heterozygous for c.796C>T and c.650_653delCTGT in the SERPINB7 gene. We then summarize the previously reported cases of different mutations in SERPINB7 along with their clinical phenotypes in an attempt to shed some light on this correlation. Further investigations and systematic data collection are still needed to clarify this issue.Leprosy or Hansen's disease is a chronic granulomatous infection that primarily affects the peripheral nerves and, consequently, the skin. Clinical manifestations vary from hypopigmentation to erythematous plaques, and it can present with leonine facies. We report a case of a patient with an uncommon clinical presentation of prurigo nodularis-like lesions without loss of sensation, for which two biopsy specimens demonstrated different histological subtypes. The first was the classic histology of lepromatous leprosy, whereas the other specimen revealed an atypical histoid leprosy variant pattern. This case report describes a patient with an atypical presentation of leprosy.Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.Mycoplasma infection may lower the threshold for drug allergy in particular patients. We present a case of drug reaction with eosinophilia and systemic symptoms (DRESS), with drug etiology and non-drug etiology (Mycoplasma infection). Possible synergism between previously known drug allergy and the acute Mycoplasma infection may have led to DRESS eruption. Interferon-γ release test and TNF-α release test yielded different patterns in the present case, suggesting a different role for each in different drug eruption types.We present a case of so-called butcher's warts in a meat handler with atopic dermatitis. PCR with direct sequence analysis confirmed the presence of HPV 7 in the hand warts of the patient. Histopathologically, the lesion contained vacuolated cells with centered nuclei, and there were no abundant keratohyalin granules in the granular layer. Clinically, HPV 7-induced warts tend to appear on the hands of meat/fish handlers or cutters in the world. Therefore, meat/fish had been thought to act as a vector for the transmission of HPV 7. In our case, the Japanese patient's occupation required the handling of meat/fish products, and HPV 7 was found from his hand warts. This evidence indicated that HPV 7 was widely distributed in the world. However, this patient worked in a Japanese restaurant, which required the handling of meat/fish products with tools such as knives and chopping boards. Therefore, we suggested that HPV 7 might be correlated with specific reservoirs.Corns are a common foot problem accounting for nearly half of all problems seen within podiatry and chiropody clinics. Hard corns are concentrated areas of hyperkeratosis within the stratum corneum, typically found on the weight-bearing (plantar) surfaces of the feet. For many patients, they are a source of pain and have been shown to negatively affect a patient's activity and quality of life. Most of the currently available treatments are short-lived in their effectiveness, with corns frequently being recurrent, requiring repeated visits to remove the painful lesions. The use of handheld microwave devices indicated for surface applications has demonstrated effectiveness in clearing recalcitrant plantar warts and significantly reducing the pain associated with them. The authors report 2 cases of patients with persistent and painful plantar corns who underwent microwave treatment of their plantar corns with a successful, lasting reduction in pain levels after the intervention. Further work is required to fully assess the potential of this treatment modality in the management of painful plantar corns.Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. selleck chemicals It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. The painful blisters and erosions significantly decrease patients' quality of life. There are multiple types of therapy related to this disorder. Many of the studies have suggested benefits from steroid therapy in addition to oral antibiotics.Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of cutaneous T-cell lymphoma. There may be a significant histologic overlap with traumatic panniculitis and lupus profundus. We describe a 54-year-old woman who had received a diagnosis of SPTCL based upon a left parietal scalp biopsy 5 years earlier. This diagnosis was supported by immunohistochemistry (IHC) demonstrating a CD8+ predominant lymphocyte population in the subcutis. T-cell gene rearrangement studies were not performed at that time. The patient was treated and showed significant clinical improvement. When several tender erythematous subcutaneous nodules appeared on the upper back, left plantar surface and pretibial region, repeat biopsy was performed. Histology revealed a lobular and septal panniculitis with no vasculitis. The infiltrate contained abundant eosinophils and histiocytes not seen in the original biopsy specimen. IHC demonstrated a mixture of CD4+, CD8+ and CD7+ lymphocytes with abundant CD68+ histiocytes. T-cell gene rearrangement studies performed on one of the lesions failed to demonstrate clonality. It is important to recognize that patients with SPTCL are not exempt from other types of panniculitis, and complete histologic, IHC and molecular workups are essential to properly classify all cutaneous lesions in these patients.This study assessed the metabolic energy consumption of walking with the external components of a "Muscle-First" Motor Assisted Hybrid Neuroprosthesis (MAHNP), which combines implanted neuromuscular stimulation with a motorized exoskeleton. The "Muscle-First" approach prioritizes generating motion with the wearer's own muscles via electrical stimulation with the actuators assisting on an as-needed basis. The motorized exoskeleton contributes passive resistance torques at both the hip and knee joints of 6Nm and constrains motions to the sagittal plane. For the muscle contractions elicited by neural stimulation to be most effective, the motorized joints need to move freely when not actively assisting the desired motion. This study isolated the effect of the passive resistance or "friction" added at the joints by the assistive motors and transmissions on the metabolic energy consumption of walking in the device. Oxygen consumption was measured on six able-bodied subjects performing 6 min walk tests at three different speeds (0.4, 0.8, and 1.2 m/s) under two different conditions one with the motors producing no torque to compensate for friction, and the other having the motors injecting power to overcome passive friction based on a feedforward friction model. Average oxygen consumption in the uncompensated condition across all speeds, measured in Metabolic Equivalent of Task (METs), was statistically different than the friction compensated condition. There was an average decrease of 8.8% for METs and 1.9% for heart rate across all speeds. While oxygen consumption was reduced when the brace performed friction compensation, other factors may have a greater contribution to the metabolic energy consumption when using the device. Future studies will assess the effects of gravity compensation on the muscular effort required to lift the weight of the distal segments of the exoskeleton as well as the sagittal plane constraint on walking motions in individuals with spinal cord injuries (SCI).Using soft pneumatic actuator is a feasible solution in the complex unstructured environment, owing to their inherent compliance, light weight, and safety. However, due to the limitations of soft actuators' materials and structures, they fall short of motion accuracy and load capacity, or need large-size, bulky compressors. Meanwhile, in order to gain better control, it is essential for them to sense the environments as well. This leads to high-price sensors or a complicated manufacture technique. Here, a self-sensing vacuum soft actuation structure is proposed, aiming at acquiring good balance among precision, output force, and actuation pressure. The actuator mainly comprises a flexible membrane and a compression spring. When actuated, the flexible membrane outside the actuator compresses the internal spring skeleton, realizing large contractile motion in axial direction. Its built-in force sensor can indirectly measure the absolute displacement of the actuator with certain accuracy (about 5% F.S.). Besides, it does not require high actuation pressure to generate enough output force. The actuator is quite easy to manufacture with low cost, and there are a variety of materials to choose from. We established quasi-static models for actuators built of two different kinds of membrane materials, and tested their accuracy and output force. In addition, to break through the limits of vacuum actuation, a method of positive-negative pressure combined actuation has been proposed, which lowers the requirements for air source equipments, increases actuation pressure, and reduces potential safety threats at the same time. This kind of soft actuators can also effectively resist and detect impacts. The design of a two-finger dexterous robot hand and robot joint based on this soft actuator illustrates its broad application prospects in the fields of mobile robots, wearable devices, and human-robot interaction.
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