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Postepy Dermatologii I Alergologii Feb 2024Secondary syphilis is well-known for its protean cutaneous manifestations and therefore very easy to be misdiagnosed.
INTRODUCTION
Secondary syphilis is well-known for its protean cutaneous manifestations and therefore very easy to be misdiagnosed.
AIM
The current study was to observe the frequency of histopathological features characterizing secondary syphilis, and summarize the diseases most likely to be misdiagnosed.
MATERIAL AND METHODS
In this study a total of 129 pathological specimens from 114 patients with biopsy-proven secondary syphilis were retrospectively analysed and categorized according to clinicopathologic characteristics. The frequency of histopathological features characterizing secondary syphilis were analysed by comparison with clinical features.
RESULTS
We found that in a single sample there is at least one feature or at most 13 features exist concurrently, and most demonstrated between 5 and 9 diagnostic features. Plasma cells (97.6% overall vs. 94.0% ≤ 6 features), endothelial swelling (86.8% vs. 74.0%), epidermis hyperplasia (73.6% vs. 62.0%) especially irregular acanthosis, lymphocytes infiltration (71.3% vs. 52.0%) and interstitial patterns (69% vs. 72.0%) were the most common findings in all cases as well as in cases with ≤ 6 features. Granulomatous inflammation is an uncommon histopathologic pattern in secondary syphilis (12.4%). The rash morphologies of our biopsies mainly manifesting as macules and maculopapules were more likely to have 6 or fewer features, which were not only easily misdiagnosed for pityriasis rosea, tinea and erythema multiforme, but also mostly taken from the trunk and genitalia. Atypical morphologies can be combined with plasma cell infiltration and T. pallidum immunohistochemical stain to confirm the diagnosis.
CONCLUSIONS
In this study plasma cells from superficial and deep perivascular distribution to nodular infiltration were a crucial clue for diagnosis of secondary syphilis.
PubMed: 38533366
DOI: 10.5114/ada.2023.135755 -
Acta Dermatovenerologica Alpina,... Mar 2024To date, there is no gold standard for identifying photoaging. This study investigates the correlation of photoaging profiles based on the Glogau scale and the...
INTRODUCTION
To date, there is no gold standard for identifying photoaging. This study investigates the correlation of photoaging profiles based on the Glogau scale and the dermoscopy photoaging scale (DPAS) in a coastal population.
METHODS
An analytical cross-sectional study was conducted at Cilincing Municipal Health Center in Jakarta in October 2022. Individuals living in the coastal area, 20 years and older, with Fitzpatrick skin types III-V, and with a mean daily sun exposure of ≥ 3 hours were included. The Glogau scale and DPAS were assessed through history taking, physical examination, and dermoscopic examination. A Spearman correlation test was used to assess the correlation between the Glogau scale and DPAS.
RESULTS
Thirty individuals with a mean age of 41.5 ± 11.5 years participated in the study. The median Glogau score was 3 (range: 2-4). The mean DPAS score was 28.5 ± 5.6. Lentigo, hypo-hyperpigmented macules, telangiectasia, deep wrinkles, and superficial wrinkles were observed in all subjects. There was a moderate positive correlation between the Glogau scale and DPAS (r = 0.536, p = 0.002).
CONCLUSIONS
The Glogau scale has a significant correlation with DPAS. DPAS can serve as a reliable, easy, practical, and fast diagnostic tool to assess the severity of aging.
Topics: Humans; Adult; Middle Aged; Skin; Skin Aging; Dermoscopy; Indonesia; Cross-Sectional Studies
PubMed: 38532654
DOI: No ID Found -
Frontiers in Oncology 2024Novel therapies, immune checkpoint inhibitors (ICIs), and BRAF/MEK inhibitors (BRAFi/MEKi) provide unprecedented survival benefits for patients with advanced melanoma....
BACKGROUND
Novel therapies, immune checkpoint inhibitors (ICIs), and BRAF/MEK inhibitors (BRAFi/MEKi) provide unprecedented survival benefits for patients with advanced melanoma. However, the management of drug-induced adverse events is problematic for both agents and, although rare, can cause serious cardiac dysfunction.
CASE REPORT
A 42-year-old male patient with no significant medical history noticed a fading dark brown patch on his left anterior chest, which had been there for 20 years, after his second coronavirus disease 2019 (COVID-19) vaccination. The left axillary lymph node became swollen one week after a third booster vaccination. Thinking of it as an adverse reaction to the vaccine, but the swelling increased, so he visited a hospital. The patient presented with a brown macule with depigmentation on the left anterior chest and a 13 cm left axillary mass. A biopsy of the axillary mass showed a metastatic malignant melanoma. Positron emission tomography (PET) showed an accumulation only in the axillary lymph nodes. One month after the initial diagnosis, the axillary mass had further enlarged. In addition, pleural effusion, ascites, difficulty breathing, and systemic edema appeared, and he was diagnosed with heart failure (NYHA class III). Echocardiography showed an ejection fraction of 52% and electrocardiogram (ECG) showed no abnormal findings. Though it was (a life-threatening instead of the life-threatening) the life-threatening condition, we determined that the symptoms were associated with the current disease. Then nivolumab (nivo) plus ipilimumab (ipi) was initiated after explaining the risk of cardiac dysfunction associated with drug use to the patient. After initiation of ICIs, treatment was switched to BRAFi/MEKi (encorafenib/vinimetinib) after the patient tested positive for BRAF V600E. After one month of treatment, the tumor shrank significantly and achieved a complete remission after four months. Furthermore, as the tumor shrank, the patient's heart failure improved, and he was able to continue treatment without serious drug-induced cardiotoxicity.
CONCLUSION
Both ICI and BRAFi/MEKi carry a risk of cardiac dysfunction. However, without any underlying cardiac disease or severe cardiac dysfunction, their administration should not necessarily be excluded if careful follow-up is provided.
PubMed: 38529375
DOI: 10.3389/fonc.2024.1366532 -
Clinical, Cosmetic and Investigational... 2024Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in...
Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of mutations for piebaldism etiology and presentation.
PubMed: 38524391
DOI: 10.2147/CCID.S449691 -
Diagnostics (Basel, Switzerland) Feb 2024Reflectance confocal microscopy (RCM) has a defined in vivo morphology of vitiligo and re-pigmentation. Combination therapies seem more effective than monotherapies.
BACKGROUND
Reflectance confocal microscopy (RCM) has a defined in vivo morphology of vitiligo and re-pigmentation. Combination therapies seem more effective than monotherapies.
OBJECTIVE
We aim to describe the clinical and RCM features of re-pigmentation with combined narrowband ultraviolet B (NB-UVB) and piperine-based topical treatment in localized vitiligo.
METHODS
Eight patients enrolled at a single center received combined treatment: topical treatment was applied twice daily + NB-UVB twice weekly for 2 × 2-month periods. Clinical changes were analyzed by the Vitiligo Noticeability Scale (VNS) and percentage of re-pigmentation. The evaluator agreement was assessed. Predefined RCM features had the presence/absence of (i) blood vessels, (ii) dendritic cells, and the quantity of (i) an irregular honeycombed pattern and (ii) non-pigmented papillae. Clinical and RCM monitoring was performed at the baseline, 2, 3, 5, and 7 months.
RESULTS
Macules were "slightly less noticeable" with 25-50% re-pigmentation. Irregular honeycomb patterns and non-pigmented papillae were significantly less frequently observed, and in less extended areas (T1 vs. T2, = 0.039; T0 vs. T1, = 0.005 and T2 vs. T4, = 0.033). Dendritic cells and blood vessels improved, with significant changes in blood vessels (T1 vs. T2, = 0.005 and T3 vs. T4, = 0.008).
CONCLUSIONS
RCM confirms the morphological changes induced by combined treatment for localized vitiligo.
PubMed: 38472966
DOI: 10.3390/diagnostics14050494 -
Acta Dermato-venereologica Mar 2024
PubMed: 38470166
DOI: 10.2340/actadv.v104.35278 -
Open Medicine (Warsaw, Poland) 2024Cardiovascular diseases are the leading cause of mortality and morbidity globally. Clinicians must know cutaneous signs of cardiovascular disease, including petechiae,... (Review)
Review
Cardiovascular diseases are the leading cause of mortality and morbidity globally. Clinicians must know cutaneous signs of cardiovascular disease, including petechiae, macules, purpura, lentigines, and rashes. Although cutaneous manifestations of diseases like infectious endocarditis and acute rheumatic fever are well established, there is an indispensable need to evaluate other important cardiovascular diseases accompanied by cutaneous signs. Moreover, discussing the latest management strategies in this regard is equally imperative. This review discusses distinctive skin findings that help narrow the diagnosis of cardiovascular diseases and recommendations on appropriate treatment.
PubMed: 38463529
DOI: 10.1515/med-2024-0897 -
Diagnostic Pathology Mar 2024Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of... (Review)
Review
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.
CASE PRESENTATION
A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.
CONCLUSIONS
We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.
Topics: Female; Humans; Adult; Tuberous Sclerosis; Angiofibroma; Gingiva; Fibroma; Giant Cells
PubMed: 38459589
DOI: 10.1186/s13000-024-01467-4 -
Orphanet Journal of Rare Diseases Mar 2024Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly...
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended. We aimed to elucidate the state of knowledge of patients/caregivers and physicians on individual disease manifestations. We further examined whether the association to a TSC centre has an impact on the comprehensive consideration of potential disease manifestations. Therefore, a survey was performed in a cohort of German TSC patients and their physicians. Complete information was available for 94 patients with a median age of 18 years [range 1-55] and a sex distribution of 53.2% (male): 48.8% (female). Using almost identical questionnaires for patients/caregivers and their respective physician, there was a good correlation for disease assessments associated with relevant morbidity and mortality like epilepsy, renal angiomyolipoma, cardiac rhabdomyomas or intellectual disability. Correlation was moderate for several neuropsychiatric disorders and only poor for hypomelanotic macules, dental pits or retinal achromic patches. Estimation of overall disease severity using a numeric rating scale correlated highly significantly (Pearson correlation coefficient = 0.767; p < 0.001) between patients/caregivers and physicians. In general, physicians more likely quoted items as 'unknown' than patients (822 answers vs. 435 answers in the respective groups). Questionnaires completed by physicians who were associated with a specialized TSC centre declared a significantly lower proportion of items as unknown (mean 8.7% vs. 20.5%; p < 0.001). These findings indicate that patients treated by specialized TSC centres seem to obtain a more comprehensive surveillance. Furthermore, it shows that there were reasonable surveillance strategies in general and sufficient patient/caregiver interaction and education in the examined cohort. However, for the most prominent disease characteristics there was a good awareness within both the patients/caregivers and the physicians group.
Topics: Humans; Male; Female; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Angiomyolipoma; Tuberous Sclerosis; Intellectual Disability; Kidney Neoplasms; Patient Acuity; Physicians
PubMed: 38459571
DOI: 10.1186/s13023-024-03118-9 -
Monitoring the Long-Term Effectiveness of Miltefosine in Indian Post-Kala-Azar Dermal Leishmaniasis.The American Journal of Tropical... Apr 2024Post-kala-azar dermal leishmaniasis (PKDL), the dermal sequel to visceral leishmaniasis (VL), is characterized by hypopigmented macules (macular) and/or papules and...
Post-kala-azar dermal leishmaniasis (PKDL), the dermal sequel to visceral leishmaniasis (VL), is characterized by hypopigmented macules (macular) and/or papules and nodules (polymorphic). Post-kala-azar dermal leishmaniasis plays a significant role in disease transmission, emphasizing the need for monitoring chemotherapeutic effectiveness. Accordingly, this study aimed to quantify the parasite burden in PKDL patients after treatment with miltefosine by a quantitative polymerase chain reaction (qPCR). A Leishmania kinetoplastid gene-targeted qPCR was undertaken using DNA from skin biopsy specimens of patients with PKDL at three time points, i.e., at disease presentation (week 0, n = 157, group 1), upon completion of treatment (week 12, n = 39, group 2), and at any time point 6 months after completion of treatment (week ≥36, n = 54, group 3). A cycle threshold (Ct) <30 was considered the cutoff for positivity, and load was quantified as the number of parasites/µg genomic DNA (gDNA); cure was considered when samples had a Ct >30. The parasite load at disease presentation (group 1) was 10,769 (1,339-80,441)/µg gDNA (median [interquartile range]). In groups 2 and 3, qPCR results were negative in 35/39 cases (89.7%) and 48/54 cases (88.8%), respectively. In the 10/93 (10.8%) qPCR-positive cases, the parasite burdens in groups 2 and 3 were 2,420 (1,205-5,661)/µg gDNA and 22,195 (5,524-100,106)/µg gDNA, respectively. Serial monitoring was undertaken in 45 randomly selected cases that had completed treatment; all cases in groups 2 or 3 had a Ct >30, indicating cure. Overall, qPCR confirmed an 89.2% cure (as 83/93 cases showed parasite clearance), and the persistent qPCR positivity was attributed to nonadherence to treatment or unresponsiveness to miltefosine and remains to be investigated.
Topics: Humans; Leishmaniasis, Visceral; Leishmaniasis, Cutaneous; Leishmania; DNA; Leishmania donovani; Phosphorylcholine
PubMed: 38442428
DOI: 10.4269/ajtmh.23-0197