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1.
Dev Biol ; 515: 60-66, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38964706

RESUMO

Terminal differentiation of epithelial cells is critical for the barrier function of the skin, the growth of skin appendages, such as hair and nails, and the development of the skin of amniotes. Here, we present the hypothesis that the differentiation of cells in the embryonic periderm shares characteristic features with the differentiation of epithelial cells that support the morphogenesis of cornified skin appendages during postnatal life. The periderm prevents aberrant fusion of adjacent epithelial sites during early skin development. It is shed off when keratinocytes of the epidermis form the cornified layer, the stratum corneum. A similar role is played by epithelia that ensheath cornifying skin appendages until they disintegrate to allow the separation of the mature part of the skin appendage from the adjacent tissue. These epithelia, exemplified by the inner root sheath of hair follicles and the epithelia close to the free edge of nails or claws, are referred to as scaffolding epithelia. The periderm and scaffolding epithelia are similar with regard to their transient functions in separating tissues and the conserved expression of trichohyalin and trichohyalin-like genes in mammals and birds. Thus, we propose that parts of the peridermal differentiation program were coopted to a new postnatal function during the evolution of cornified skin appendages in amniotes.


Assuntos
Diferenciação Celular , Diferenciação Celular/fisiologia , Animais , Pele/embriologia , Pele/citologia , Pele/metabolismo , Células Epiteliais/citologia , Células Epiteliais/metabolismo , Epitélio/embriologia , Epitélio/metabolismo , Epiderme/embriologia , Epiderme/metabolismo , Queratinócitos/citologia , Queratinócitos/metabolismo , Folículo Piloso/embriologia , Folículo Piloso/citologia , Humanos , Morfogênese
2.
Dev Dyn ; 2024 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-38288855

RESUMO

The limb anatomy displays well-defined dorsal and ventral compartments, housing extensor, and flexor muscles, which play a crucial role in facilitating limb locomotion and manipulation. Despite its importance, the study of limb dorsoventral patterning has been relatively neglected compared to the other two axes leaving many crucial questions about the genes and developmental processes implicated unanswered. This review offers a thorough overview of the current understanding of limb dorsoventral patterning, synthesizing classical literature with recent research. It covers the specification of dorsal fate in the limb mesoderm and its subsequent translation into dorsal morphologies-a process directed by the transcription factor Lmx1b. We also discuss the potential role of dorsoventral patterning in the evolution of paired appendages and delve into the involvement of LMX1B in Nail-Patella syndrome, discussing the molecular and genetic aspects underlying this condition. Finally, the potential role of dorsoventral polarity in digit tip regeneration, a prominent instance of multi-tissue regeneration in mammals is also considered. We anticipate that this review will renew interest in a process that is critical to limb function and evolutionary adaptations but has nonetheless been overlooked.

3.
Mol Microbiol ; 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38038143

RESUMO

In immunocompetent individuals, Fusarium spp. stands out as the causative agent of onychomycosis, among the non-dermatophyte molds. Despite evidence indicating that Fusarium oxysporum organizes itself in the form of a biofilm causing onychomycosis, there is little literature on the etiopathogenesis of the biofilm on the nail, specifically the signaling molecules present, known as quorum sensing (QS). Thus, this study detected the presence of a molecule related to QS from the ex vivo biofilm of F. oxysporum on human nail and investigated its effect on preformed biofilm in vitro. The detection and physicochemical characterization of a QS molecule, from the extracellular matrix (ECM), was carried out by Fourier transform infrared (FTIR) spectroscopy with an attenuated total reflectance (ATR) accessory and by headspace gas chromatography coupled to mass spectrometry (GC-MS) analyses. Determination of viable cells, cell activity, total biomass, ECM components and scanning electron microscopy (SEM) were performed to evaluate the influence of the QS molecule on the in vitro biofilm of F. oxysporum. The beginning, in the ex vivo biofilm of F. oxysporum on human nails, the volatile organic compound 2-ethyl-1-hexanol (2EH) was detected as a component of QS. Thereafter in vitro analyses, synthetic 2EH was able to modulate the biofilm by stimulating its filament, increasing total biomass and ECM production in terms of total carbohydrates, but with a reduction in total proteins and nucleic acids. We thus evidence, for the first time, the presence of 2EH in the biofilm of F. oxysporum, developed on the human nail, and the in vitro action of this compound as a QS molecule.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38341669

RESUMO

OBJECTIVES: To assess the frequency of simultaneous distal interphalangeal (DIP) joint disease and adjacent nail psoriasis (finger unit) among patients with psoriatic arthritis (PsA) and compare the efficacy of the interleukin (IL)-17A antagonist ixekizumab (IXE) and the tumour necrosis factor (TNF)-α inhibitor adalimumab (ADA). METHODS: This post hoc analysis evaluated the simultaneous occurrence of DIP joint involvement (tenderness and/or swelling) and adjacent nail psoriasis among patients with PsA from the SPIRIT-H2H (NCT03151551) trial comparing IXE to ADA. Among patients with simultaneous DIP joint involvement and adjacent nail psoriasis in ≥ 1 digit at baseline, treatment effects were assessed through week 52 for each affected finger unit; 'finger unit' defines the connected DIP joint and adjacent nail of an individual digit. RESULTS: A total of 354 patients had simultaneous DIP joint involvement and adjacent nail psoriasis in ≥ 1 finger unit at baseline. Among them, 1309 (IXE = 639, ADA = 670) finger units had baseline DIP joint tenderness and/or swelling and adjacent nail psoriasis. Proportions of affected finger units achieving complete resolution were significantly higher with IXE vs ADA as early as week 12 (38.8% vs 28.4%, p< 0.0001) and at all post-baseline assessments through week 52 (64.9% vs 57.5%, p= 0.0055). CONCLUSIONS: In this study cohort, patients with DIP joint involvement almost always had adjacent nail psoriasis. Greater resolution of DIP joint tenderness, swelling, and adjacent nail psoriasis was achieved at all timepoints over 52 weeks through targeting IL-17A with IXE than TNF-α with ADA, which is noteworthy given prior comparable musculoskeletal outcomes for both drug classes.

5.
Clin Genet ; 105(2): 214-219, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37899549

RESUMO

Critical genes involved in embryonic development are often transcription factors, regulating many downstream genes. LMX1B is a homeobox gene that is involved in formation of the limbs, eyes and kidneys, heterozygous loss-of-function sequence variants and deletions cause Nail-Patella syndrome. Most of the reported variants are localised within the gene's coding sequence, however, approximately 5%-10% of affected individuals do not have a pathogenic variant identified within this region. In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B-binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail-Patella phenotype that includes ophthalmological and renal manifestations.


Assuntos
Genes Homeobox , Unhas , Criança , Humanos , Proteínas de Homeodomínio/genética , Mutação , Patela , Fenótipo , Fatores de Transcrição/genética
6.
Microvasc Res ; 155: 104712, 2024 09.
Artigo em Inglês | MEDLINE | ID: mdl-38909952

RESUMO

BACKGROUND: Leprosy, a chronic infectious disease, is associated with various nail changes. Its etiopathogenesis is multifaceted, with microvascular damage being crucial. Nail fold capillaroscopy (NFC) emerges as a novel tool for detecting early vascular deficits in leprosy. The study aimed to assess and provide a complete clinical characterization of NFC changes in leprosy patients. METHODS: It is an observational cross-sectional study, done over a period of 1.5 year (January 2021 to august 2022) in a tertiary care hospital, encompassing 60 patients diagnosed with leprosy (18-60 years). After obtaining informed consent; detailed history, complete cutaneous and neurological examinations were conducted. All fingernails and toenails were examined for clinical changes. Subsequently, onychoscopy was performed using USB type of video-dermatoscope (Model AM7115MZT Dino-lite), a non-invasive tool. This was followed by NFC which was done for all fingernails and images were recorded by single operator, which were then assessed for quantitative and qualitive changes and statistical analysis was conducted using SPSS v20, with mean capillary density compared using Student's t-test, morphological change frequencies assessed by proportions, and group comparisons made using Chi-square or Fischer exact tests, with a significance threshold of p < 0.05. RESULTS: Among the 60 patients, 39 were in the lepromatous group, which included both borderline lepromatous (BL) and lepromatous leprosy (LL) patients, and 17 were in the tuberculoid group, which included borderline tuberculoid (BT) leprosy patients; 23.3 % had Type 1 reactions, and 18.3 % had Type 2 reactions. Nail fold capillaroscopy (NFC) showed microvasculature changes in 93.3 % of patients. The average capillary density was 6.8 ± 1.5 capillaries per mm, with the lepromatous group having a lower density (6.5 ± 1.09) compared to the tuberculoid group (7.0 ± 0.86). The most common NFC changes in the tuberculoid group were tortuous capillaries (70 %), capillary dropouts, and dilated capillaries (both 64.7 %). In the lepromatous group, capillary dropouts (82 %) were most frequent, followed by tortuous (69 %), receding (69 %), and dilated capillaries (66 %). A dilated and prominent subpapillary plexus was more common in the lepromatous group (35 %, p = 0.04). Patients with trophic changes in the lepromatous group had more capillary dropouts and bizarre capillaries. Capillary dropouts, dilated capillaries, and visible subpapillary venous plexus were more prevalent in patients with Type 2 reactions. CONCLUSION: NFC changes are prevalent in both tuberculoid and lepromatous leprosy, which may be an indicator of peripheral vascular compromise and trophic changes, especially in lepromatous leprosy. NFC can be an auxiliary tool for detecting microvascular abnormalities in leprosy patients.


Assuntos
Capilares , Angioscopia Microscópica , Unhas , Valor Preditivo dos Testes , Humanos , Adulto , Pessoa de Meia-Idade , Masculino , Feminino , Estudos Transversais , Unhas/irrigação sanguínea , Adulto Jovem , Adolescente , Capilares/diagnóstico por imagem , Capilares/patologia , Capilares/fisiopatologia , Microcirculação , Doenças da Unha/microbiologia , Doenças da Unha/diagnóstico por imagem , Doenças da Unha/patologia , Densidade Microvascular , Hanseníase/diagnóstico por imagem , Hanseníase/patologia , Hanseníase/microbiologia , Hanseníase/diagnóstico
7.
Lupus ; 33(12): 1379-1382, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39285729

RESUMO

Two cases of chilblain lupus erythematosus (CLE) potentially triggered by exposure to ultraviolet (UV) nail lamps are presented. These cases, along with a review of the literature, suggest a possible link between UV nail lamp use and CLE development or reactivation. Further research is needed to confirm this association, but healthcare professionals should be aware of the potential risks of this practice, especially for patients with photosensitive conditions.


Assuntos
Pérnio , Lúpus Eritematoso Cutâneo , Unhas , Raios Ultravioleta , Humanos , Pérnio/etiologia , Pérnio/diagnóstico , Lúpus Eritematoso Cutâneo/etiologia , Lúpus Eritematoso Cutâneo/diagnóstico , Raios Ultravioleta/efeitos adversos , Feminino , Unhas/patologia , Adulto , Masculino , Pessoa de Meia-Idade
8.
Int J Legal Med ; 138(2): 443-447, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37775593

RESUMO

Nail gun injuries are a forensic problem; it can be difficult to distinguish self-inflicted injuries from accident and homicide instances. This kind of injuries shares some characteristics with both gunshot and puncture wounds. We describe a peculiar case of a man who committed suicide driving nails into his skull using a pneumatic nail gun. Entrance wounds were found on both temporal regions of the head. Reviewing scientific literature, this is the first case in Italy reporting the macroscopic data of bilateral head and brain nail gun injuries during an autopsy. Circumstantial elements were not sufficient to clarify if these lesions were self-inflicted, inflicted by accident, or else. Radiological examination can be helpful to show the exact location of the nails, but it has also its own limitations. We firmly believe that autopsy, especially the head section, is crucial to identify the nature and the extension of these lesions, thus giving us much more information about the mechanism of death and the circumstances in which it occurred.


Assuntos
Lesões Encefálicas , Traumatismos Cranianos Penetrantes , Traumatismo Múltiplo , Suicídio , Ferimentos por Arma de Fogo , Masculino , Humanos , Homicídio , Unhas , Traumatismos Cranianos Penetrantes/diagnóstico por imagem , Traumatismos Cranianos Penetrantes/patologia , Ferimentos por Arma de Fogo/diagnóstico por imagem , Ferimentos por Arma de Fogo/patologia
9.
BMC Infect Dis ; 24(1): 352, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38532327

RESUMO

INTRODUCTION: Leprosy is a chronic granulomatous infectious disease, mainly affecting the skin and peripheral nerves, caused by the obligate intracellular bacteria Mycobacterium leprae. The disease has been discussed in several review articles in recent research, but as far as we know, only a few have addressed the effects of leprosy on nails, especially those who examine the dermoscopic features of nails in leprosy patients. PURPOSES: We aimed to document nail changes in leprosy patients and identify any particular findings through dermoscopic examination. METHOD: This was an observational study conducted in the Dermatology and Venereology Clinic of Hasan Sadikin Hospital, West Java, Indonesia, from March 2023 through May 2023. All patients have established cases of leprosy, and the diagnosis is based on clinical and bacteriological examinations. Recruitment was done through total sampling. Dermoscopic examination of all fingernails and toenails was performed at 10x magnification using a handheld dermatoscope (Heine DELTA 20 T Dermatoscope) in polarized mode without the linkage fluid to document the dermoscopic features. RESULT: Of a total of 19 patients, 15 had nail changes due to leprosy. Out of 15 patients, 13 patients were male. Patients below 25 years old had more nail changes. Most of the patients had a duration of disease greater than two years. Both fingers and toes were involved in nine patients. In this study, the most common dermoscopic feature found was the longitudinal ridge. Other dermoscopic features found in this study were transverse lines, onycholysis, longitudinal melanonychia, leukonychia, subungual hemorrhage, subungual hyperkeratosis, anonychia, and onychorrexis. CONCLUSION: Nail changes are found in leprosy patients and have a wide variety of clinical appearances. A dermoscopy should be performed to assess nail changes in leprosy.


Assuntos
Hanseníase , Doenças da Unha , Humanos , Masculino , Adulto , Feminino , Unhas , Indonésia , Centros de Atenção Terciária , Doenças da Unha/etiologia , Hanseníase/diagnóstico
10.
Environ Sci Technol ; 2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38237041

RESUMO

Herein, 16 traditional and 13 novel organophosphate esters (OPEs) in skin wipes, personal PM2.5, sputum, and nails (fingernails and toenails) and 7 OPE metabolites in urine synchronously obtained from 64 college students were analyzed. Similar compositional profiles of the OPEs were found in skin wipes and nails and in personal PM2.5 and induced sputum. Significant correlations were observed between the concentrations of high-lipophilicity low-volatility OPEs in skin wipes and nails and between the concentrations of high-volatility low-lipophilicity OPEs in personal PM2.5 and sputum. These results imply that OPEs in fingernails and toenails may mainly come from external sources rather than internal exposure, and human nails and sputum can be used as indicators of human exposure to OPEs. A comparison between the daily exposure doses of the OPEs in personal PM2.5 and sputum shows that more volatile compounds may have higher inhalation bioavailability, which should be considered to improve the accuracy of inhalation exposure assessments. According to comprehensive external and internal exposure assessment, dermal absorption may be a more dominant pathway than inhalation, and skin wipes may be the best representative environmental matrix of human exposure to OPEs.

11.
J Am Acad Dermatol ; 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39222880

RESUMO

BACKGROUND: Nail diseases are often associated with significant physical and psychosocial burden, but diagnosis is challenging due to nonspecific clinical and histological findings. Nailfold capillaroscopy has been studied for the diagnosis of systemic diseases, but studies on nail diseases are lacking. OBJECTIVE: The objectives of our study were to characterize and compare capillary changes in a set of nail conditions versus controls, between nail groups, and based on demographic/clinical criteria. METHODS: This was a prospective cross-sectional study of patients with nail psoriasis, onychomycosis, idiopathic onycholysis, brittle nail syndrome, nail lichen planus, retronychia, other nail conditions, and no nail findings (controls) undergoing capillaroscopy imaging/analysis. RESULTS: Nail psoriasis versus control patients demonstrated decreased capillary length/density and increased abnormal capillaries, with higher frequency in older, male patients. Onychomycosis was associated with increased meandering capillaries compared with controls, nail psoriasis, and nail lichen planus. Retronychia is associated with increased disorganized polymorphic capillaries compared with controls and onychomycosis. LIMITATIONS: Limitations include a small sample size for certain nail conditions and small numbers of nail psoriasis patients with psoriatic arthritis. CONCLUSION: Our findings highlight nailfold capillaroscopy as a potentially quick, cost-effective, and noninvasive imaging modality, as an adjunct for diagnosis and treatment initiation for patients with onychodystrophies.

12.
J Am Acad Dermatol ; 90(3): 585-596, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38007038

RESUMO

BACKGROUND: Inflammatory diseases of the nail, including nail psoriasis and nail lichen planus, are associated with significant disease burden and have a negative impact on quality of life. Diagnosis is often delayed, especially when patients present without cutaneous findings. Therefore, recognizing clinical signs and symptoms of inflammatory nail diseases, and initiating timely and appropriate treatment, is of utmost importance. OBJECTIVE: We review recent studies on diagnostic techniques, discuss severity grading and scoring systems, and describe consensus treatment recommendations for nail psoriasis and nail lichen planus. METHODS: An updated literature review was performed using the PubMed database on studies assessing diagnostic techniques or treatment modalities for nail psoriasis and nail lichen planus. RESULTS: Recent studies on diagnostic techniques for inflammatory nail disease have focused on use of dermoscopy, capillaroscopy, and ultrasound modalities. Treatment of these conditions is dichotomized into involvement of few (≤3) or many (>3) nails. Recent psoriatic therapeutics studied for nail outcomes include brodalumab, tildrakizumab, risankizumab, deucravacitinib, and bimekizumab, while emerging treatments for nail lichen planus include JAK inhibitors and intralesional platelet rich plasma injections. CONCLUSIONS: We emphasize the need for increased awareness and expanded management strategies for inflammatory nail diseases to improve patient outcomes.


Assuntos
Líquen Plano , Doenças da Unha , Psoríase , Humanos , Qualidade de Vida , Doenças da Unha/diagnóstico , Doenças da Unha/tratamento farmacológico , Unhas , Líquen Plano/diagnóstico , Líquen Plano/tratamento farmacológico , Psoríase/complicações , Psoríase/diagnóstico , Psoríase/tratamento farmacológico
13.
J Cutan Pathol ; 51(7): 500-505, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38563529

RESUMO

This report describes the clinical, onychoscopic, nail clipping, and histopathologic features of a malignant onychopapilloma. A 71-year-old male presented to our outpatient clinic for a stable, asymptomatic lesion on his left middle finger that had been present for 2 years. Prior nail clipping histopathology showed nail plate thinning with subungual abnormal onychocytes. Clinical examination revealed a 2-mm-wide streak of longitudinal xanthonychia extending to the proximal nail fold, with distal hyperkeratosis and onycholysis. Onychoscopy showed irregular longitudinal nail plate ridging with scattered punctate hemorrhagic foci. An excisional nail unit biopsy demonstrated cellular atypia of the nail bed epithelium, matrix metaplasia, longitudinal abnormal onychocytes, increased Ki-67 staining, and negative HPV immunoperoxidase staining, confirming the diagnosis of malignant onychopapilloma.


Assuntos
Doenças da Unha , Neoplasias Cutâneas , Humanos , Masculino , Idoso , Doenças da Unha/patologia , Neoplasias Cutâneas/patologia , Papiloma/patologia , Papiloma/cirurgia , Unhas/patologia
14.
J Cutan Pathol ; 51(11): 911-918, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39044464

RESUMO

The terms "onychofibroblast" (nail-specific fibroblast) and onychodermis (nail-specific dermis) were first introduced in 2006 and 2012, respectively, based on distinctive histologic and immunohistochemical features from the dermis of the surrounding skin and have been demonstrated in multiple studies. Recently, based on molecular research, the definition of onychodermis containing onychofibroblasts has been expanded to encompass the area located between the nail matrix and bed epithelium and periosteum. Single-cell RNA sequencing and in situ hybridization demonstrated that onychofibroblasts within the onychodermis express the genes including RSPO4, MSX1, WIF-1, and BMP5, which are implicated in nail formation and/or in disorders with nail phenotype. A mutation in RSPO4, a component of the Wnt signaling pathway, causes anonychia congenita. Nail matrix onychodermis and nail bed onychodermis share many similar characteristics which differ from the surrounding normal dermis of the skin. Comparative spatial transcriptomic and single-cell analyses of human nail units and hair follicles suggest that onychodermis is the counterpart of follicular dermal papilla, which plays a key role in hair follicle growth and morphogenesis. Onychomatricoma, as a nail-specific tumor, has been demonstrated to be a mesenchymal tumor that originates from onychofibroblasts and is associated with the upregulation of Wnt signaling. Collectively, the onychodermis and onychofibroblasts play crucial roles in nail development and these specialized nail mesenchymal elements are key components in the pathogenesis of onychomatricoma. The concept of onychodermis containing onychofibroblasts is very important for nail biology and pathology.


Assuntos
Fibroblastos , Unhas , Humanos , Unhas/patologia , Unhas/metabolismo , Fibroblastos/patologia , Fibroblastos/metabolismo , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/genética , Imuno-Histoquímica/métodos , Doenças da Unha/patologia , Doenças da Unha/metabolismo , Doenças da Unha/genética , Trombospondinas
15.
J Cutan Pathol ; 51(9): 714-723, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39091243

RESUMO

BACKGROUND: Nail squamous cell carcinoma (NSCC) is the most frequent ungual malignant tumor, but its incidence remains low. The histopathological description is sparse. We aim to characterize NSCC histopathological aspects, search for a correlation with clinical subtypes, and investigate immunohistochemistry expression of p16, p53, and Ki67. METHODS: This retrospective study collected NSCC diagnosed in our dermatology department between 2007 and 2021. The histopathological features were correlated with the clinical signs and immunohistochemistry. RESULTS: A total of 48 patients were included, and immunohistochemistry was available for 36 of them. Two histopathological patterns became prominent: a blue-basaloid type characterized by koilocytosis (p < 0.001), and a pink-keratinizing type. Mean ages were similar when comparing basaloid and periungual versus keratinizing and subungual (p < 0.001). p16 was positive in 31 of 36 cases: 18 basaloid and 13 keratinizing (p = 0.167). p53 and Ki67 were all abnormal. CONCLUSIONS: Our study described two histopathological NSCC subtypes and associated them with the two clinical subtypes: the blue-basaloid type, HPV-induced, in situ, of periungual localization in younger males; and the pink-keratinizing type, non-HPV-induced, invasive, of subungual site, in elderly. Immunohistochemistry was not contributing on its own, but p16 positivity associated with basaloid histopathological profile helps support HPV etiology.


Assuntos
Carcinoma de Células Escamosas , Imuno-Histoquímica , Antígeno Ki-67 , Doenças da Unha , Neoplasias Cutâneas , Humanos , Masculino , Feminino , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/metabolismo , Pessoa de Meia-Idade , Estudos Retrospectivos , Imuno-Histoquímica/métodos , Idoso , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Doenças da Unha/patologia , Doenças da Unha/metabolismo , Adulto , Idoso de 80 Anos ou mais , Antígeno Ki-67/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Unhas/patologia , Unhas/metabolismo , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/análise
16.
J Cutan Pathol ; 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38940413

RESUMO

A wide spectrum of tumors may affect the periungual spaces of the digits. Superficial acral fibromyxoma (SAF) is a rare, benign soft tissue tumor with diverse clinical presentations. We present a case of a 55-year-old woman with a 2-year history of a solitary periungual tumor on the left thumb, subjected to multiple episodes of trauma. Initially suspected to be a periungual squamous cell carcinoma (SCC) based on clinical and dermoscopic features, the tumor was confirmed to be a CD34- SAF through histopathology and immunohistochemistry. Although CD34 immunoreactivity is common in SAF, one-third of these tumors, including this case, do not stain for this marker. Periungual SCC considered a "great mimicker of nail tumors," may resemble other benign nail tumors such as SAF. The patient underwent complete surgical excision with primary closure, resulting in no recurrence after 1 year. This case highlights SAF as an underrecognized benign entity that may manifest with features suspicious of malignancy, potentially leading to unnecessarily aggressive interventions. Recognizing SAF through accurate biopsy techniques and thorough histopathologic evaluation, even in the absence of CD34 reactivity, is crucial for appropriate treatment and preservation of hand function and appearance.

17.
Pediatr Nephrol ; 39(9): 2627-2631, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38478172

RESUMO

Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the LMX1B gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show nonspecific findings, patients with nephropathy alone may not be diagnosed without undergoing genetic testing. We examined the case of a 6-year-old girl with persistent high proteinuria who was not diagnosed by kidney biopsy but had a diagnosis of a de novo mutation in the LMX1B gene following genetic testing. Retrospectively, only the thumbs showed triangular lunulae, while the third and fourth fingers lacked skin creases over the distal interphalangeal joints, which is subtle but characteristic of NPS. Notifying pediatric nephrologists of these findings can help avoid unnecessary kidney biopsies and lead to early detection of the disease.


Assuntos
Proteínas com Homeodomínio LIM , Mutação , Síndrome da Unha-Patela , Polegar , Fatores de Transcrição , Humanos , Síndrome da Unha-Patela/genética , Síndrome da Unha-Patela/diagnóstico , Proteínas com Homeodomínio LIM/genética , Feminino , Criança , Fatores de Transcrição/genética , Polegar/anormalidades , Dedos/anormalidades , Dedos/patologia , Nefropatias/genética , Nefropatias/diagnóstico , Nefropatias/patologia , Biópsia
18.
Support Care Cancer ; 32(8): 554, 2024 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-39066890

RESUMO

PURPOSE: Common side effects of taxane chemotherapy are nail toxicity and peripheral neuropathy (CIPN) causing severe impact on the quality of life. Different methods of cryotherapy to prevent these side effects have been tested. We investigated the use of machine-controlled cooling of hands and feet to reduce nail toxicity and CIPN in patients receiving taxane chemotherapy. METHODS: Patients receiving Docetaxel (planned dose ≥ 300 mg/m2) or Paclitaxel (planned dose ≥ 720 mg/m2 - ) in the adjuvant or palliative setting of different cancers were included. The dominant hand and foot were cooled to approximately 10 °C using the Hilotherapy machine. The contralateral hand and foot were used as intrapatient comparison. The primary endpoint was the occurrence of any CIPN due to paclitaxel or nail toxicity due to Docetaxel. Both the intention to treat population (ITT) and the per protocol population (PPP) were analyzed. RESULTS: A total of 69 patients, 21 treated with Docetaxel and 48 with Paclitaxel, were included at our centre between 08/2020 and 08/2022. Nail toxicity due to Docetaxel was overall not significantly improved by cooling in the ITT or PPP but a significant benefit across visits was found for the ITT. CIPN due to Paclitaxel was numerically better in the ITT and significantly better in the PPP. A significant benefit of cooling on CIPN occurrence across visits was found for the ITT and the PPP. Cooling was very well tolerated. CONCLUSION: Cooling of hands and feet has a clinically meaningful impact on reducing occurrence of CIPN and nail toxicity on treatment with taxanes. Effects are more significant over time and are dose dependent. TRIAL REGISTRATION NUMBER: 2020-00381. Date of registration. 24th February 2020.


Assuntos
Docetaxel , Doenças da Unha , Paclitaxel , Doenças do Sistema Nervoso Periférico , Humanos , Feminino , Estudos Prospectivos , Pessoa de Meia-Idade , Masculino , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/prevenção & controle , Idoso , Docetaxel/administração & dosagem , Docetaxel/efeitos adversos , Paclitaxel/administração & dosagem , Paclitaxel/efeitos adversos , Doenças da Unha/terapia , Doenças da Unha/induzido quimicamente , Neoplasias/tratamento farmacológico , Adulto , Taxoides/efeitos adversos , Taxoides/administração & dosagem , Antineoplásicos/efeitos adversos , Antineoplásicos/administração & dosagem , Crioterapia/métodos , Qualidade de Vida
19.
Support Care Cancer ; 32(10): 647, 2024 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-39251506

RESUMO

PURPOSE: Taxanes are widely used chemotherapeutic agents that frequently cause nail changes and have a significant impact on patients' quality of life. Despite the prevalence of taxane-induced nail toxicity, limited data are available regarding evidence-based management strategies for the prevention or treatment of taxane-induced nail changes. Therefore, we aimed to gain insights into the prevention, treatment, and evaluation of nail changes in patients with cancer in Japan by conducting a questionnaire survey of physicians, pharmacists, and nurses involved in oncology treatment. METHODS: The questions addressed prophylactic methods, evaluation practices, and treatment approaches for various nail disorders. The questionnaires were distributed on March 1, 2022, with a response deadline of December 1, 2022. RESULTS: Of the 120 questionnaires distributed, 88 (73.3%) were returned, and all of them were analyzed. The respondents included 69 physicians (32 oncologists, 26 breast surgeons, 6 dermatologists, 3 obstetricians/gynecologists, 1 gastroenterological surgeon, and 1 urologist), 9 pharmacists, and 10 nurses. Prophylactic measures included moisturizing (58.0%), protection (42.0%), cooling therapy (37.5%), and cleanliness (33.0%). Approximately 70% of the respondents used the Common Criteria for Adverse Events (CTCAE), while approximately 30% did not use a specific evaluation method. Opinions regarding treatment with antimicrobial or corticosteroid ointments varied; however, all severe cases were referred by dermatologists. CONCLUSION: Our survey revealed that the management of chemotherapy-induced nail changes varies in clinical practice in Japan. These findings emphasize the need for standardized management strategies and further research.


Assuntos
Antineoplásicos , Doenças da Unha , Taxoides , Humanos , Japão , Taxoides/efeitos adversos , Taxoides/uso terapêutico , Doenças da Unha/induzido quimicamente , Inquéritos e Questionários , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico , Feminino , Masculino , Neoplasias/tratamento farmacológico , Qualidade de Vida , Pessoal de Saúde/estatística & dados numéricos , Pessoa de Meia-Idade
20.
Dermatology ; : 1-9, 2024 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-38852575

RESUMO

INTRODUCTION: Despite numerous treatment options for nail lichen planus (NLP), a validated method for measuring the severity of NLP and therapeutic response in clinical trials is absent. The aim of the study was to develop and validate a measurement instrument, Typical Nail Lichen Planus Severity Index (tNLPSI), for typical NLP that could be used in clinical trials. METHODS: A total of 48 patients pathologically confirmed with typical NLP were enrolled in this study. Five dermatologists were trained to use the tNLPSI activity scale and the Physician's Global Assessment (PGA) scale to score samples independently to estimate inter-rater and intra-rater reliability across two sessions. In addition, tNLPSI activity scores were compared with PGA scores to assess the construct validity. RESULTS: The tNLPSI activity scale had excellent internal consistency and inter-rater reliability (Cronbach's alpha 0.990; ICC = 0.954; 95% CI = 0.930-0.971), and the correlations between the different graders' scores indicate good consistency (rp = 0.934-0.968). In addition, the tNLPSI activity scale demonstrated high intra-rater reliability (ICC = 0.996; 95% CI = 0.993-0.998), showing good reproducibility. And tNLPSI activity scores and PGA scores showed good construct validity (Spearman's rho = 0.941 and Spearman's rho = 0.903-0.935, respectively; p < 0.01). CONCLUSION: The tNLPSI activity scale was demonstrated to be consistent, reliable, reproducible, and feasible, making it a potential valuable tool for evaluating the treatment response in typical NLP clinical trials.

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