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Acta Dermatovenerologica Croatica : ADC Mar 2024A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier....
A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier. Clinically, there were multiple umbilicated papules with a hyperkeratotic central plug, localized on the upper and lower limbs (Figure 1, a-b). The patient had no personal history of diabetes mellitus and no chronic renal failure, but suffered from hypertrophic cardiomyopathy. Blood tests showed no abnormalities. On histological examination of a skin lesion, an ectatic hair follicle with hyperkeratotic ostium was observed with fragments of hair, inflammatory cells, and epidermal perforation. A final diagnosis of Kyrle's disease (KD) was established. The patient underwent narrowband UVB (NB-UVB) phototherapy with residual atrophic scars (Figure 1, c-d) but with complete and long-lasting resolution of symptoms as well. KD belongs to perforating dermatoses (PD), a heterogeneous group of skin diseases characterized by the transepidermal elimination of dermal components. Despite the classification of PD being debated, four primary forms are traditionally recognized: reactive perforating collagenosis, elastosis perforans serpiginosum, perforating folliculitis, and KD (1). The typical skin manifestation of KD is an eruption of dome-shaped papules and nodules with a whitish central keratotic plug, mainly localized on the extremities and the buttocks. Described by Kyrle in 1916, KD is frequently associated with systemic diseases, especially chronic renal failure and diabetes mellitus. Other associated conditions include chronic hepatic disease, internal malignancies, and congestive heart disease (1). Despite the absence of a consensus, the control of the underlying disease remains the first therapeutic target. Both topical (keratolytics, retinoids, and corticosteroids) and systemic treatments (corticosteroid, retinoids, antibiotics, and phototherapy) have been reported to control skin manifestations (2). In our experience, NB-UVB is an effective option as first-line therapy in case of diffuse lesions, both in KD and in other PDs (3). NS is a relatively common RASopathy, an heterogenous group of genetic disease characterized by a defect of the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway, with an estimated prevalence of 1/1000-2500. PTPN11 is the most frequent mutated gene, accounting for 50% of cases, but more than ten genes were identified as causing NS (4). Classical features include a distinctive facial dysmorphism, short stature, pulmonic stenosis, and other anomalies of different organs. The skin is commonly involved. Keratinization disorders and hair abnormalities such as keratosis pilaris, ulerythema ophryogenes, wavy or curly hair, and scarce scalp hair are often described. Other cutaneous signs include easy bruising, skin hyperlaxity, multiple lentigines, and café-au-lait spots (5). To the best of our knowledge, no cases of KD in patients with NS have been previously reported to date. The exact etiopathogenesis of KD is not clear, but it was hypothesized that systemic diseases, such as diabetes and chronic renal failure, can cause a deposit of substances or dermis alterations, which triggers the inflammatory process with subsequent transepidermal extrusion (1). In our patient, we ruled out all the causes commonly associated with KD. It is however possible that this manifestation could be a direct result of our patient's illness. Our patient suffered from diffuse keratosis pilaris, and one of the possible pathogenetic mechanisms of KD was theorized to be an abnormal epidermal keratinization with a secondary inflammatory dermic response (1). On the other hand, the hyperlaxity and fragility of the skin typical of NS suggest the presence of altered connective tissue, which could trigger an abnormal keratinization and, subsequently, the transepidermal extrusion, as well as perforating elastosis, and is associated with genetic connective tissue diseases (1). Moreover, our patient suffered from a cardiac disease, another condition associated with KD (5). Although these explanations have their appeal, there is currently insufficient evidence of a link between KD and NS, and it will be necessary to collect additional data to confirm this hypothesis.
Topics: Humans; Female; Noonan Syndrome; Adult; Ultraviolet Therapy; Darier Disease
PubMed: 38946190
DOI: No ID Found -
Epilepsy Research Jun 2024Early prediction of epileptic seizures can help reduce morbidity and mortality. In this work, we explore using electrocardiographic (ECG) signal as input to a seizure...
OBJECTIVES
Early prediction of epileptic seizures can help reduce morbidity and mortality. In this work, we explore using electrocardiographic (ECG) signal as input to a seizure prediction system and note that the performance can be improved by using selected signal processing techniques.
METHODS
We used frequency domain analysis with a deep neural network backend for all our experiments in this work. We further analysed the effect of the proposed system for different seizure semiologies and prediction horizons. We explored refining the signal using signal processing to enhance the system's performance.
RESULTS
Our final system using the Temple University Hospital's Seizure (TUHSZ) corpus gave an overall prediction accuracy of 84.02 %, sensitivity of 87.59 %, specificity of 81.9 %, and an area under the receiver operating characteristic curve (AUROC) of 0.9112. Notably, these results surpassed the state-of-the-art outcomes reported using the TUHSZ database; all findings are statistically significant. We also validated our study using the Siena scalp EEG database. Using the frequency domain data, our baseline system gave a performance of 75.17 %, 79.17 %, 70.04 % and 0.82 for prediction accuracy, sensitivity, specificity and AUROC, respectively. After selecting the optimal frequency band of 0.8-15 Hz, we obtained a performance of 80.49 %, 89.51 %, 75.23 % and 0.89 for prediction accuracy, sensitivity, specificity and AUROC, respectively which is an improvement of 5.32 %, 10.34 %, 5.19 % and 0.08 for prediction accuracy, sensitivity, specificity and AUROC, respectively.
CONCLUSIONS
The seizure information in ECG is concentrated in a narrow frequency band. Identifying and selecting that band can help improve the performance of seizure detection and prediction.
SIGNIFICANCE
EEG is susceptible to artefacts and is not preferred in a low-cost ambulatory device. ECG can be used in wearable devices (like chest bands) and is feasible for developing a low-cost ambulatory device for seizure prediction. Early seizure prediction can provide patients and clinicians with the required alert to take necessary precautions and prevent a fatality, significantly improving the patient's quality of life.
PubMed: 38944916
DOI: 10.1016/j.eplepsyres.2024.107403 -
Brain Research Bulletin Jun 2024The ability to accurately encode the temporal information of sensory events and hence to make prompt action is fundamental to humans' prompt behavioral decision-making....
The ability to accurately encode the temporal information of sensory events and hence to make prompt action is fundamental to humans' prompt behavioral decision-making. Here we examined the ability of ensemble coding (averaging multiple inter-intervals in a sound sequence) and subsequent immediate reproduction of target duration at half, equal, or double that of the perceived mean interval in a sensorimotor loop. With magnetoencephalography (MEG), we found that the contingent magnetic variation (CMV) in the central scalp varied as a function of the averaging tasks, with a faster rate for buildup amplitudes and shorter peak latencies in the "half" condition as compared to the "double" condition. ERD (event-related desynchronization) -to-ERS (event-related synchronization) latency was shorter in the "half" condition. A robust beta band (15-23Hz) power suppression and recovery between the final tone and the action of key pressing was found for time reproduction. The beta modulation depth (i.e., the ERD-to-ERS power difference) was larger in motor areas than in primary auditory areas. Moreover, results of phase slope index (PSI) indicated that beta oscillations in the left supplementary motor area (SMA) led those in the right superior temporal gyrus (STG), showing SMA to STG directionality for the processing of sequential (temporal) auditory interval information. Our findings provide the first evidence to show that CMV and beta oscillations predict the coupling between perception and action in time averaging.
PubMed: 38942396
DOI: 10.1016/j.brainresbull.2024.111021 -
Clinics in Dermatology Jun 2024Frontal fibrosing alopecia (FFA) is characterized by a receding hairline in the frontotemporal region due to the gradual loss of hair follicles and then follicular stem...
Frontal fibrosing alopecia (FFA) is characterized by a receding hairline in the frontotemporal region due to the gradual loss of hair follicles and then follicular stem cells and follicular fibrosis. Follicular stem cells are crucial in skin healing after chemical peeling and other resurfacing procedures. Although there is a possible association of FFA with a history of facial and scalp surgical procedures, there is no information on the safety of cosmetic procedures in patients with FFA. We report five patients with FFA who experienced unusual and complicated outcomes after undergoing a deep chemical peel (phenol and croton oil). As the prevalence of FFA continues to increase globally, it is essential to raise awareness about the potential incompatibility of this dermatologic disorder with specific cosmetic procedures, such as deeper peels and other resurfacing modalities.
PubMed: 38942154
DOI: 10.1016/j.clindermatol.2024.06.024 -
Journal of the European Academy of... Jun 2024Alopecia areata (AA) carries a psychological burden for patients beyond hair loss. However, quality-of-life measurement tools such as EQ-5D used in clinical trials may...
IMPORTANCE
Alopecia areata (AA) carries a psychological burden for patients beyond hair loss. However, quality-of-life measurement tools such as EQ-5D used in clinical trials may not adequately capture the burden of AA, the perceived stigmatization or the psychosocial impact of AA.
OBJECTIVE
To investigate the potential association between disease severity and the degree of social isolation, perceived stigmatization, anxiety and depression, alcohol consumption and work absenteeism using multiple PRO measures in patients with AA.
DESIGN, SETTING AND PARTICIPANTS
Using the Danish Skin Cohort, the study included adult patients diagnosed with AA. The study included multiple PRO measures, including Skindex-16, EQ-5D-5L, Work Productivity and Activity Impairment (WPAI), Alcohol Use Disorders Identification Test-Consumption (AUDIT-C) and the Alopecia Areata Symptom Impact Scale (AASIS). The questionnaires were dispatched to the patients in January 2023. The severity of AA was determined based on scalp involvement using a modified Alopecia Areata Scale. Multiple multivariate linear regressions were conducted using Skindex-16, AASIS and WPAI, while multivariate logistic regressions were applied to HADS, AUDIT-C and EQ-5D-5L.
RESULTS
A total of 376 patients were included, of which 177 (47%) had severe disease, 41 (11%) had moderate disease, 94 (25%) had mild disease, and 64 (17%) were in remission. The median age of patients was 55 (IQR, 47-66 years) and most were female (70%). Skindex-16 and AASIS were the only PRO measures able to distinguish between severity. For these scores, moderate and severe diseases, female sex, and involvement of eyebrows increased the score and negatively impacted patient quality of life.
CONCLUSION AND RELEVANCE
The results indicate the importance of using the proper tool for the intended measurement of quality of life and that factors such as the severity of AA, as well as female sex and involvement of the eyebrows, may potentially increase the psychosocial burden of AA.
PubMed: 38940661
DOI: 10.1111/jdv.20211 -
Cureus May 2024Hidradenoma papilliferum (HP) is a benign adnexal tumor, commonly affecting the anogenital region of middle-aged women. Clinically, HP typically presents as a...
Hidradenoma papilliferum (HP) is a benign adnexal tumor, commonly affecting the anogenital region of middle-aged women. Clinically, HP typically presents as a slow-growing, unilateral, well-circumscribed, smooth skin-colored cystic dermal nodule, usually growing less than 1 cm in size. Reports of ectopic HP are exceedingly rare but have been identified in areas containing modified apocrine gland structures, most commonly on the head and neck, and have included ceruminous glands of the external ear canal, the Moll glands of the eyelid, mammary glands of the breast, maxillofacial region and areas on the scalp. To the best of our knowledge, there is only one case of ectopic HP located on the external ear canal reported in English literature. We present a second case of draining ectopic HP located on the conchal bowl of the external ear canal.
PubMed: 38939294
DOI: 10.7759/cureus.61237 -
JAAD Case Reports Jul 2024
PubMed: 38938699
DOI: 10.1016/j.jdcr.2024.05.008 -
Facial Plastic Surgery Clinics of North... Aug 2024Alopecia, a widespread issue affecting both genders, often manifests as androgenetic alopecia, although a thorough examination is needed to rule out other causes. This... (Review)
Review
Alopecia, a widespread issue affecting both genders, often manifests as androgenetic alopecia, although a thorough examination is needed to rule out other causes. This chapter focuses on the treatment of androgenetic alopecia. Finasteride and minoxidil, the Food and Drug Administration-approved treatments, offer stability and in some cases improvement in scalp coverage. Platelet-rich plasma exhibits positive results as an off-label alopecia therapy. For eligible individuals, hair transplantation proves effective, using healthy follicular units to restore hair-bearing areas. Multiple options allow for the tailoring of interventions to each patient.
Topics: Humans; Alopecia; Minoxidil; Finasteride; Platelet-Rich Plasma; 5-alpha Reductase Inhibitors; Male; Female
PubMed: 38936999
DOI: 10.1016/j.fsc.2024.02.006 -
Facial Plastic Surgery Clinics of North... Aug 2024Restoration of the beard region has become an important component of hair restoration surgery due to increased awareness of its natural-appearing results. In the... (Review)
Review
Restoration of the beard region has become an important component of hair restoration surgery due to increased awareness of its natural-appearing results. In the author's experience performing more than 700 primary beard hair transplants and tens of reparative procedures, key aesthetic steps include proper graft dissection so that one- and two-hair grafts contain a minimal cuff of surrounding skin, acute angulation and appropriate direction of recipient sites using the smallest possible recipient-site blades, and aesthetic design.
Topics: Humans; Hair; Alopecia; Esthetics; Scalp; Hair Follicle
PubMed: 38936998
DOI: 10.1016/j.fsc.2024.02.005 -
Gynecologic Oncology Jun 2024Chemotherapy-induced alopecia (CIA) is a common and emotionally-taxing side effect of chemotherapy, including taxane agents used frequently in treatment of gynecologic... (Review)
Review
BACKGROUND
Chemotherapy-induced alopecia (CIA) is a common and emotionally-taxing side effect of chemotherapy, including taxane agents used frequently in treatment of gynecologic cancers. Scalp hypothermia, also known as "cold caps", is a possible method to prevent severe CIA, studied primarily in the breast cancer population.
OBJECTIVES
To compile existing data on scalp hypothermia in cancer patients receiving taxane chemotherapy in order to investigate its application to the gynecologic cancer population.
SEARCH STRATEGY
MEDLINE, Embase, CINAHL, ClinicalTrials.gov, and Cochrane were searched through January 31, 2023.
SELECTION CRITERIA
Full-text manuscripts reporting on the results of scalp hypothermia in patients receiving taxane-based chemotherapy.
DATA COLLECTION AND ANALYSIS
Binomial proportions were summed, and random-effects meta-analyses performed.
MAIN RESULTS
From 1424 records, we included 31 studies, representing 14 different countries. Only 5 studies included gynecologic cancer patients. We extracted the outcome of the proportion of patients with <50% hair loss. Among 2179 included patients, 60.7% were reported to have <50% hair loss (meta-analysis: 60.6%, 95% confidence interval [CI] 54.9-66.1%). Among the 28 studies reporting only on taxane-based chemotherapy, the rate of <50% hair loss was 60.0% (meta-analysis: 60.9%, (95% CI: 54.9-66.7%). In comparative studies, hair loss was significantly less in patients who received scalp hypothermia versus those who did not (49.3% versus 0% with <50% hair loss; OR 40.3, 95% CI: 10.5-154.8). Scalp cooling achieved <50% hair loss in patients receiving paclitaxel (67.7%; meta-analysis 69.9%, 95% CI 64.1-75.4%) and docetaxel (57.1%; meta-analysis 60.5%, 95% CI 50.0-71.6%). Meta-analysis on patient satisfaction in regard to scalp cooling found a satisfaction rate of 78.9% (95% CI 69.1-87.4%).
CONCLUSION
Scalp hypothermia may be an effective method to reduce some cases of CIA due to taxane chemotherapy, especially paclitaxel. More trials need to be done to determine the precise effects of scalp hypothermia in gynecologic cancer patients.
PubMed: 38936283
DOI: 10.1016/j.ygyno.2024.06.012