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International Journal of Dermatology Apr 2024Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus... (Review)
Review
Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus kinase inhibitors (JAKi) are emerging as a promising new treatment modality. Therefore, to assess and understand the extent of knowledge in the emerging field of JAKi use in vitiligo, a scoping review of the literature was undertaken. The reviewed articles explored a wide variety of JAKi administered either orally or topically for vitiligo. There were no injectable JAKi studied. Tofacitinib was the most commonly studied oral JAKi in 16 of the 35 studies selected for review, followed by baricitinib (n = 3), and one study each with ritlecitinib, ruxolitinib, and upadacitinib. Ruxolitinib (n = 6) and tofacitinib (n = 6) were the most often studied topical JAKi, followed by delgocitinib (n = 1). Potential benefits may vary between JAKi based on their receptor selectivity profile and coexistent autoimmune diseases. A topical JAKi would be advantageous in limited body area involvement and in adolescents. Concurrent use of JAKi with phototherapy or sun exposure appears beneficial. Most studies permitted the use of other topical agents. Acne-related events, though frequent yet mild, were reported with both oral and topical JAKi. Nasopharyngitis, upper respiratory tract infections, and headaches were the most common adverse effects seen in the larger trials with JAKi. No serious or clinically meaningful hematology or thromboembolic events were detected. Treatment of vitiligo with oral or topical JAKi seems to be promising and the growing evidence shows a favorable risk-benefit profile.
PubMed: 38610078
DOI: 10.1111/ijd.17157 -
Acta Neuropathologica Apr 2024Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are...
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other syndromes with multiple café-au-lait macules may be difficult in the pediatric age group, and ocular findings, especially Lisch nodules (i.e., melanocytic hamartomas on the irides), are a useful, early diagnostic tool. In recent years, novel ocular manifestations descriptively referred to as "choroidal abnormalities", choroidal "hyperpigmented spots" and "retinal vascular abnormalities" have been recognized in NF1. Choroidal abnormalities (CA) appear as bright patchy nodules that can be best detected with near-infrared ocular coherence tomography imaging (NIR-OCT). Because of their high specificity and sensitivity for NF1, CA have been added as an ocular diagnostic criterion of NF1 as an alternative to Lisch nodules. Although CA are important ocular diagnostic criteria for NF1, the histologic correlates are controversial. We present the postmortem ocular pathology findings of an NF1 patient for whom clinical notes and ocular imaging were available. Findings in this patient included choroidal hyperpigmented spots on funduscopy and retinal vascular abnormalities, both of which have been reported to be closely associated with CA. Histologic examination of the eyes showed multiple clusters of melanocytes of varying sizes in the choroid. Pathologic review of 12 additional postmortem eyes from 6 NF1 patients showed multiple, bilateral choroidal melanocytic aggregates in all eyes. These findings suggest that the CA seen on NIR-OCT and the hyperpigmented spots seen clinically in NF1 patients are manifestations of multifocal choroidal melanocytic clusters, consistent with choroidal melanocytic hamartomas. Lisch nodules, often multiple, were present in all eyes with morphology that differed from the choroidal hamartomas. As such, although CA and Lisch nodules are melanocytic hamartomas, there are clear phenotypical differences in their morphologies.
Topics: Humans; Child; Neurofibromatosis 1; Choroid; Hamartoma; Autopsy
PubMed: 38607446
DOI: 10.1007/s00401-024-02724-y -
Journal of Maxillofacial and Oral... Apr 2024COVID-19, a pandemic since 2019, is still causing significant healthcare burden across the world. Although the disease primarily presents with respiratory symptoms, a...
BACKGROUND
COVID-19, a pandemic since 2019, is still causing significant healthcare burden across the world. Although the disease primarily presents with respiratory symptoms, a multitude of signs and symptoms may be manifested elsewhere in the body.
AIM
This study was to estimate the prevalence of oral manifestations in COVID-19 diagnosed patients and thereby understand the effects of corona virus disease on oral health.
MATERIALS & METHODS
A total of 472 patients were evaluated using a questionnaire and further examined visually using a mouth mirror and a light source.The patients were evaluated for erythema, ulcers, macule, papule, vescicles, bullae or any other abnormal changes within the oral cavity.
RESULTS
103 patients (21%) were found to have oral lesions and 41 (39.8%) of them presented with palatal enanthem which was macular in nature. Candidiasis was noted in 19 (18.4%) patients, ulcer in 4 (3.8%), mucositis in 5 (4.8%), angular cheilitis in 3 (2.9%), white coating on tongue in 25 (24.2%) & depapillated tongue with glossitis in 6 (5.8%). Multivariate analysis was done using logistic regression.Tobacco chewing, malignancies and altered taste sensation were found to be independently associated with oral lesions.
CONCLUSION
The study thus confirms the presence of oral lesions in diagnosed COVID-19 patients prompting healthcare professionals on a multidisciplinary approach towards this novel disease.
PubMed: 38601253
DOI: 10.1007/s12663-023-02049-5 -
Respirology Case Reports Apr 2024Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to...
Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to respiratory compromise. Pulmonary LAM has been identified as being associated with tuberous sclerosis complex (TSC) in its pulmonary manifestation (TSC-LAM), a multisystem genetic disorder resulting from mutations in either the or genes. Herein, we describe an early 20s female admitted to the hospital with dyspnea, chest pain, hypopigmented macules, and facial fibroadenomas. She has a medical history of renal angiomyolipomas (ALMs) and pneumothoraces. Diagnosis with LAM was confirmed through high-resolution computed tomography (HRCT) scan and histopathology of lung biopsy. Whole exome sequencing analysis identified a frameshift mutation c.4504del (p.L1502Cfs*74) in the patient's gene. This variant was de novo due to its absence in the patient's parents. This is the first report on the clinical and genetic etiology of TSC-LAM in Vietnam.
PubMed: 38596252
DOI: 10.1002/rcr2.1346 -
Frontiers in Genetics 2024Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of...
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in the inguinal or axillary regions, Lisch nodules of the iris, optic gliomas, neurofibromas, and tumour predisposition. The diagnostic testing strategy for NF1 includes testing for DNA single nucleotide variants (SNVs), copy number variants (CNVs) as well as RNA analysis for deep intronic and splice variants, which can cumulatively identify the causative variant in 95% of patients. In the present study, NF1 patients were screened using a next-generation sequencing (NGS) assay targeting exons and intron/exon boundaries for SNV and multiple ligation-dependent probe amplification (MLPA) analysis for CNV detection. Twenty-six unrelated Southern African patients clinically suspected of having NF1, based on the clinical diagnostic criteria developed by the National Institute of Health (NIH), were included in the current study. A detection rate of 58% (15/26) was obtained, with SNVs identified in 80% (12/15) using a targeted gene panel and gene deletion in 20% (3/15) identified using MLPA. Ten patients (38%) had no variants identified, although they met NF1 diagnostic criteria. One VUS was identified in this study in a patient that met NF1 diagnostic criteria, however there was no sufficient information to classify variant as pathogenic. The clinical features of Southern African patients with NF1 are similar to that of the known NF1 phenotype, with the exception of a lower frequency of plexiform neurofibromas and a higher frequency of developmental/intellectual disability compared to other cohorts. This is the first clinical and molecular characterisation of a Southern African ancestry NF1 cohort using both next-generation sequencing and MLPA analysis. A significant number of patients remained without a diagnosis following DNA-level testing. The current study offers a potential molecular testing strategy for our low resource environment that could benefit a significant proportion of patients who previously only received a clinical diagnosis without molecular confirmation.
PubMed: 38596211
DOI: 10.3389/fgene.2024.1331278 -
Journal of Clinical Medicine Mar 2024Melasma is a commonly occurring pigmented skin condition that can significantly affect one's appearance, described as symmetric hyperpigmentation that presents as... (Review)
Review
Melasma is a commonly occurring pigmented skin condition that can significantly affect one's appearance, described as symmetric hyperpigmentation that presents as irregular brown to gray-brown macules on various facial areas, such as the cheeks, forehead, nasal bridge, and upper lip, along with the mandible and upper arms. Due to its complex pathogenesis and recurrent nature, melasma management is challenging and the outcomes following treatment are not always deemed satisfactory. Solely treating hyperpigmentation may prove ineffective unless paired with regenerative techniques and photoprotection, since one of the main reasons for recurrence is sun exposure. Hence, the treatment protocol starts with addressing risk factors, implementing stringent UV protection, and then treatment using different strategies, like applying topical treatments, employing chemical peels, laser and light therapies, microneedling, and systemic therapy. This review aims to provide a summary of the effectiveness and safety of the frequently employed laser and light therapies for treating melasma, focusing on laser therapy as a treatment for melasma.
PubMed: 38592701
DOI: 10.3390/jcm13051468 -
Cureus Mar 2024Pityriasis versicolor (PV) also referred to as Peter Elam's disease or tinea versicolor is caused by the species which is a chronic-relapsing widespread mycosis. The...
Pityriasis versicolor (PV) also referred to as Peter Elam's disease or tinea versicolor is caused by the species which is a chronic-relapsing widespread mycosis. The most common sites involved are the shoulders, upper arms, back, upper trunk, and chest. Atrophying PV is a very rare variant that has rarely been reported in the Indian literature. Hence, in this case report, a 29-year-old male presented with chief complaints of multiple asymptomatic, light-colored lesions over his chest, shoulder, and arms for three months. On examination, multiple well-defined hypopigmented macules of varying sizes with fine scales were observed on the patient's chest, shoulders, and arms. Dermoscopic examination revealed nonuniform perifollicular hypopigmentation with clearly demarcated borders, patchy scaling, and inconspicuous ridges and furrows. Moreover, a histopathological examination was performed that reported flattening of rete ridges along with fungal hyphae and spores which consequently confirmed the diagnosis. The medical intervention with antifungal agents was prescribed by the dermatologist, after which the lesion was completely resolved and the follow-up period reported no recurrence of the lesions demonstrating positive outcomes. In conclusion, diagnosing atrophic PV which is a rare variant of PV can be challenging. Hence, accurate diagnosis along with appropriate and adequate intervention can lead to the resolution of the condition and can prevent its recurrence.
PubMed: 38586795
DOI: 10.7759/cureus.55763 -
Cureus Apr 2024Syphilis is a worldwide chronic systemic sexually transmitted infection caused by the spirochete bacterium . Here, we report a 28-year-old homosexual male who presented...
Syphilis is a worldwide chronic systemic sexually transmitted infection caused by the spirochete bacterium . Here, we report a 28-year-old homosexual male who presented to the dermatology clinic with a six-month history of asymptomatic persistent skin lesions. A review of systems revealed unintentional weight loss of about 40 kg within one year. Skin examination revealed multiple scaly and non-scaly hyperpigmented macules and patches on the palms and soles. Hair, nail, and mucus membrane examinations were normal. There was no lymphadenopathy. A skin biopsy revealed psoriasiform acanthosis, lichenoid infiltrates with moderately dense mononuclear lymphohistiocytic cells, few plasma cells, and eosinophils. Laboratory investigations revealed positive rapid plasma reagin (RPR) with a titer of 1:128. hemagglutination test (TPHA) was positive. The HIV test by western blot was positive. Based on the above clinicopathological and laboratory findings, a diagnosis of secondary syphilis was made in this patient, who also tested positive for HIV. He was given a single dose of penicillin G benzathine (2.4 units) intramuscularly. He was also started on Dolutegravir 50 mg tablet once daily and Tenofovir alafenamide fumarate + Emtricitabine tablet once daily. Three months after penicillin G benzathine treatment, the RPR test turned negative, and the skin lesions disappeared.
PubMed: 38566778
DOI: 10.7759/cureus.57367 -
International Journal of Developmental... Jun 2024Segawa syndrome is a rare autosomal recessive form of dopa-responsive dystonia resulting from TH gene dysfunction. Patients typically exhibit symptoms such as...
Segawa syndrome is a rare autosomal recessive form of dopa-responsive dystonia resulting from TH gene dysfunction. Patients typically exhibit symptoms such as generalized dystonia, rigidity, tremors, infantile Parkinsonism, and pseudo-spastic paraplegia. Levodopa is often an effective treatment. Due to its rarity, high heterogeneity, and poorly understood pathological mutation and phenotype spectrums, as well as genotype-phenotype and genotype-treatment outcome correlations, Segawa syndrome poses diagnostic and therapeutic challenges. In our study, through clinical and molecular analyses of three Chinese Segawa patients, we re-evaluated the pathogenicity of a TH mutation (c.880G>C;p.G294R) previously categorized as "Conflicting classifications of pathogenicity" in ClinVar. Also, we summarized the clinical phenotypes of all reported Segawa syndrome cases until 2023 and compared them with our patients. We identified a novel phenotype, "cafe-au-lait macules," not previously observed in Segawa patients. Additionally, we discussed the correlation between specific genotypes and phenotypes, as well as genotypes and treatment outcomes of our three cases. Our findings aim to enhance the understanding of Segawa syndrome, contributing to improved diagnosis and treatment approaches in the future.
Topics: Humans; Male; Female; Mutation; Dystonic Disorders; Treatment Outcome; Tyrosine 3-Monooxygenase; Levodopa; Child; Phenotype; Child, Preschool; Asian People; China; Heterozygote; East Asian People
PubMed: 38566307
DOI: 10.1002/jdn.10328