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1.
BMJ Case Rep ; 17(5)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38719246

RESUMO

Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.


Assuntos
Livedo Reticular , Dermatopatias Vasculares , Telangiectasia , Humanos , Feminino , Telangiectasia/congênito , Telangiectasia/complicações , Telangiectasia/diagnóstico , Dermatopatias Vasculares/diagnóstico , Dermatopatias Vasculares/complicações , Lactente , Fotocoagulação a Laser/métodos , Vasos Retinianos/anormalidades , Vasos Retinianos/diagnóstico por imagem , Retina/anormalidades , Retina/diagnóstico por imagem
5.
Eur J Med Genet ; 69: 104942, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38677542

RESUMO

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome. We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G > A, p. (Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described initially in the TEBC syndrome. Further descriptions are required to confirm the observed endocrine and kidney abnormalities. This should contribute to a more comprehensive understanding of the phenotypic spectrum and may help establish genotype-phenotype correlations. In the context of genotype-first strategy, accurate patient descriptions are fundamental. Characterization of specific syndromic associations is essential for variant interpretation support and patient follow-up, even in very rare diseases, such as the TEBC syndrome.


Assuntos
Displasia Ectodérmica , Cardiopatias Congênitas , Humanos , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Fenótipo , Braquidactilia/genética , Braquidactilia/patologia , Masculino , Telangiectasia/genética , Telangiectasia/patologia , Feminino , Mutação de Sentido Incorreto , Síndrome , Microcefalia/genética , Microcefalia/patologia , Criança , Proteína Quinase C
6.
Mycoses ; 67(4): e13721, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38570912

RESUMO

BACKGROUND: Psoriatic patients may experience the coexistence of onychomycosis (OM). However, the evaluation of OM in psoriatics has been hindered by potential clinical differences from OM in non-psoriatics. OBJECTIVE: To assess and compare dermoscopic features between toenail OM in psoriatic and in non-psoriatic patients. PATIENTS AND METHODS: Between September 2020 and September 2023, dermoscopy was conducted on 183 affected toenails by OM in psoriatics and 232 affected toenails by OM in non-psoriatics in two centres. The dermoscopic characteristics were compared using the Chi-squared test. RESULTS: Among toenail OM cases in psoriatic subjects, the most prevalent dermoscopic features included pitting (147/183, 80.33%) and subungual hyperkeratosis (118/183, 64.48%). Conversely, toenail OM in non-psoriatics was characterized by subungual hyperkeratosis (175/232, 75.43%) and nail spikes (139/232, 59.91%). Comparative analysis revealed a significantly higher occurrence of pitting (80.33% vs. 15.96%, p < .001), periungual telangiectasis (22.40% vs. 4.74%, p < .001), oil patches (12.57% vs. 0.43%,p < .001) and transverse grooves (43.72% vs. 28.45%,p < .01) in toenail OM in psoriatics. Furthermore, toenail OM in psoriatics exhibited a significantly lower frequency of yellow structureless area (13.11% vs. 42.67%, p < .001), nail spikes (43.17% vs. 59.91%, p < .01), ruin appearance of sulphur nugget (8.20% vs. 31.03%, p < .001), dotted/blocky haemorrhage (6.01% vs. 20.69%,p < .001) and partial onycholysis (32.79% vs. 46.98%, p < .01). CONCLUSIONS: Dermoscopic features of toenail OM in psoriatic and non-psoriatic patients exhibit notable differences. OM in psoriatics shows a higher frequency of pitting and periungual telangiectasis, while a lower frequency of yellow structureless areas and nail spikes under dermoscopy.


Assuntos
Ceratose , Doenças da Unha , Onicomicose , Telangiectasia , Humanos , Onicomicose/epidemiologia , Onicomicose/complicações , Unhas , Estudos Prospectivos , Ceratose/complicações , Telangiectasia/complicações
8.
Am J Dermatopathol ; 46(5): 292-304, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38513131

RESUMO

ABSTRACT: Cutaneous collagenous vasculopathy (CCV) is a rare and idiopathic microangiopathy of superficial dermal blood vessels. There have been 75 cases described in the literature to date, not including the current report; however, given its clinical similarity to other primary telangiectasias, it is likely to be underreported and underdiagnosed. Here, we describe the clinical and histological features of 2 patients we newly diagnosed with CCV. Both generally fit the profile of prior cases and confirm previously described associations-they both are older White women, have rashes on their lower extremities, and have conditions and medications that are common among other reported cases. However, both are also somewhat atypical, as Patient 1 had symptomatic CCV and Patient 2 had a papular rash. As such, both cases broaden the spectrum of our current understanding of CCV. We also provide a comprehensive review of all published reports of CCV to date and uncover 2 previously unreported associations: one with visceral malignancy, and the other with hypothyroidism. Whether these association are coincidental is worth investigating in future studies.


Assuntos
Dermatopatias Vasculares , Telangiectasia , Humanos , Feminino , Dermatopatias Vasculares/patologia , Telangiectasia/patologia , Diagnóstico Diferencial , Extremidade Inferior/patologia
9.
J Imaging Inform Med ; 37(3): 1137-1150, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38332404

RESUMO

In recent years, deep learning (DL) has been used extensively and successfully to diagnose different cancers in dermoscopic images. However, most approaches lack clinical inputs supported by dermatologists that could aid in higher accuracy and explainability. To dermatologists, the presence of telangiectasia, or narrow blood vessels that typically appear serpiginous or arborizing, is a critical indicator of basal cell carcinoma (BCC). Exploiting the feature information present in telangiectasia through a combination of DL-based techniques could create a pathway for both, improving DL results as well as aiding dermatologists in BCC diagnosis. This study demonstrates a novel "fusion" technique for BCC vs non-BCC classification using ensemble learning on a combination of (a) handcrafted features from semantically segmented telangiectasia (U-Net-based) and (b) deep learning features generated from whole lesion images (EfficientNet-B5-based). This fusion method achieves a binary classification accuracy of 97.2%, with a 1.3% improvement over the corresponding DL-only model, on a holdout test set of 395 images. An increase of 3.7% in sensitivity, 1.5% in specificity, and 1.5% in precision along with an AUC of 0.99 was also achieved. Metric improvements were demonstrated in three stages: (1) the addition of handcrafted telangiectasia features to deep learning features, (2) including areas near telangiectasia (surround areas), (3) discarding the noisy lower-importance features through feature importance. Another novel approach to feature finding with weak annotations through the examination of the surrounding areas of telangiectasia is offered in this study. The experimental results show state-of-the-art accuracy and precision in the diagnosis of BCC, compared to three benchmark techniques. Further exploration of deep learning techniques for individual dermoscopy feature detection is warranted.


Assuntos
Carcinoma Basocelular , Aprendizado Profundo , Neoplasias Cutâneas , Telangiectasia , Humanos , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Telangiectasia/diagnóstico por imagem , Telangiectasia/patologia , Telangiectasia/diagnóstico , Interpretação de Imagem Assistida por Computador/métodos , Dermoscopia/métodos , Sensibilidade e Especificidade
11.
Am J Med Genet A ; 194(6): e63551, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38321651

RESUMO

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.


Assuntos
Capilares , Epilepsia , Proteínas Proto-Oncogênicas c-akt , Telangiectasia , Malformações Vasculares , Feminino , Humanos , Recém-Nascido , Masculino , Capilares/anormalidades , Capilares/patologia , Epilepsia/genética , Epilepsia/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Mosaicismo , Mutação/genética , Fenótipo , Proteínas Proto-Oncogênicas c-akt/genética , Telangiectasia/genética , Telangiectasia/patologia , Telangiectasia/diagnóstico , Malformações Vasculares/genética , Malformações Vasculares/patologia , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , Adolescente
14.
Skin Res Technol ; 30(1): e13578, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38221782

RESUMO

BACKGROUND: There are no standards for evaluating skin photoaging. Dermoscopy is a non-invasive detection method that might be useful for evaluating photoaging. OBJECTIVE: To assess the correlation between the dermoscopic evaluation of photoaging and clinical and pathological evaluations. METHODS: The age, clinical evaluation (Fitzpatrick classification, Glogau Photoaging Classification, and Chung's standardized image ruler), histopathology (Masson staining and MMP-1 immunohistochemistry), and dermoscopy (Hu's and Isik's) of 40 donor skin samples were analyzed statistically, and Spearman rank correlation analysis was performed. RESULTS: There was a robust correlation between the total Hu scores and Isik dermoscopy. The correlation of dermoscopy with histopathology was higher than that of clinical evaluation methods. There is a strong correlation between telangiectases and lentigo. Xerosis, superficial wrinkle, diffuse erythema, telangiectases, and reticular pigmentation were significantly correlated with the three clinical evaluation methods. Superficial wrinkles were correlated with Masson, MMP-1, various clinical indicators, and other dermoscopic items. CONCLUSION: There is a good correlation between dermoscopy and clinical and histopathological examination. Dermoscopy might help evaluate skin photoaging.


Assuntos
Lentigo , Envelhecimento da Pele , Neoplasias Cutâneas , Telangiectasia , Humanos , Metaloproteinase 1 da Matriz , Dermoscopia/métodos , Telangiectasia/diagnóstico por imagem , Neoplasias Cutâneas/patologia
15.
Actas Dermosifiliogr ; 115(3): T246-T257, 2024 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38185205

RESUMO

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.


Assuntos
Alumínio , Lasers de Corante , Lasers de Estado Sólido , Telangiectasia Hemorrágica Hereditária , Telangiectasia , Ítrio , Humanos , Lasers de Corante/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Neodímio , Estudos Prospectivos , Qualidade de Vida , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia/etiologia , Telangiectasia/radioterapia , Resultado do Tratamento
16.
J Mech Behav Biomed Mater ; 152: 106423, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38290393

RESUMO

The modulation of cell behavior during culture is one of the most important aspects of bone tissue engineering because of the necessity for a complex mechanical and biochemical environment. This study aimed to improve the physicochemical properties of chitosan/multi-phase calcium phosphate (MCaP) scaffolds using an optimized mixture design experiment and evaluate the effect of biofunctionalization of the obtained scaffolds with the bone morphogenetic protein BMP-2 on stem cell behavior. The present study evaluated the compressive strength, elastic modulus, porosity, pore diameter, and degradation in simulated body fluids and integrated these responses using desirability. The properties of the scaffolds with the best desirability (18.4% of MCaP) were: compressive strength of 23 kPa, elastic modulus of 430 kPa, pore diameter of 163 µm, porosity of 92%, and degradation of 20% after 21 days. Proliferation and differentiation experiments were conducted using dental pulp stem cells after grafting BMP-2 onto scaffolds via the carbodiimide route. These experiments showed that MCaP promoted cell proliferation and increased alkaline phosphatase activity, whereas BMP-2 enhanced cell differentiation. This study demonstrates that optimizing the composition of a mixture of chitosan and MCaP improves the physicochemical and biological properties of scaffolds, indicating that this solution is viable for application in bone tissue engineering.


Assuntos
Anormalidades Múltiplas , Quitosana , Megalencefalia , Dermatopatias Vasculares , Telangiectasia/congênito , Biomimética , Engenharia Tecidual , Osso e Ossos , Fosfatos de Cálcio
17.
Pediatr Dermatol ; 41(1): 73-75, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37258091

RESUMO

Transient abdominal telangiectasia of the newborn (TATN) is a recently described entity. The majority of cases had no specific clinical context or trigger identified, but a minority occurred in the clinical context of transient increased intraabdominal pressure. We report four additional cases of TATN, all in the presence of transient abdominal distension, further supporting the causative relationship of abdominal distension to TATN.


Assuntos
Abdome , Telangiectasia , Recém-Nascido , Humanos , Telangiectasia/diagnóstico
18.
J Cosmet Dermatol ; 23(3): 794-802, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37969055

RESUMO

BACKGROUND: Skin aging is characterized by wrinkles, rough skin texture, pigmentation, facial erythema, and telangiectasia through structural and functional changes in the epidermis and dermis. Recently, injectable poly(D, L-lactic acid), a biodegradable polymer, has been used widely for skin rejuvenation. AIMS: This study aims to assess the efficacy and safety of injectable dermal poly D, L-lactic acid) for skin rejuvenation. PATIENTS/METHODS: A total of 16 patients who desired skin rejuvenation were included. All participants received two or three procedure sessions with a 4 weeks interval between sessions. Clinical and three-dimensional images at baseline, before each procedural session, and follow-up visits were obtained. Therapeutic effects were assessed by evaluating signs of aging skin and overall improvement by dermatologists and patients. Histologic examinations with special stains were performed on the posterior auricular areas of consenting patients at baseline and follow-up visits after injecting poly D L-lactic acid into the postauricular area as in the face. RESULTS: Overall, statistically significant differences were observed in all signs of aging skin, such as fine wrinkles, skin texture, irregular pigmentation, telangiectasia, and facial erythema before and after treatments. Half (50%) of patients responded that there was more than 50% overall improvement. There were no severe adverse events. Histologic examination demonstrated increases in collagen and elastic fibers in the dermis. CONCLUSIONS: Results of this preliminary study suggest that injectable dermal poly D, L-lactic acid can significantly affect skin rejuvenation without causing any serious adverse events.


Assuntos
Técnicas Cosméticas , Envelhecimento da Pele , Telangiectasia , Humanos , Ácido Hialurônico/efeitos adversos , Rejuvenescimento , Técnicas Cosméticas/efeitos adversos , Eritema/etiologia , Telangiectasia/tratamento farmacológico , Ácido Láctico/efeitos adversos , Resultado do Tratamento , Satisfação do Paciente
19.
Am J Med Genet A ; 194(3): e63466, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37949664

RESUMO

Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel-Trenaunay syndrome, CLAPO syndrome, fibroadipose hyperplasia or overgrowth, hemihyperplasia multiple lipomatosis, and megalencephaly capillary malformation-polymicrogyria (MCAP) syndrome. MCAP is a sporadic overgrowth disorder that exhibits core features of progressive megalencephaly, vascular malformations, distal limb malformations, cortical brain malformations, and connective tissue dysplasia. In 2012, our research group contributed to the identification of predominantly mosaic, gain-of-function variants in PIK3CA as an underlying genetic cause of the syndrome. Mosaic variants are technically more difficult to detect and require implementation of more sensitive sequencing technologies and less stringent variant calling algorithms. In this study, we demonstrated the utility of deep sequencing using the Illumina TruSight Oncology 500 (TSO500) sequencing panel in identifying variants with low allele fractions in a series of patients with PROS and suspected mosaicism: pathogenic, mosaic PIK3CA variants were identified in all 13 individuals, including 6 positive controls. This study highlights the importance of screening for low-level mosaic variants in PROS patients. The use of targeted panels with deep sequencing in clinical genetic testing laboratories would improve diagnostic yield and accuracy within this patient population.


Assuntos
Anormalidades Múltiplas , Megalencefalia , Anormalidades Musculoesqueléticas , Dermatopatias Vasculares , Telangiectasia/congênito , Malformações Vasculares , Humanos , Mutação , Anormalidades Musculoesqueléticas/genética , Classe I de Fosfatidilinositol 3-Quinases/genética , Malformações Vasculares/diagnóstico , Malformações Vasculares/genética , Sequenciamento de Nucleotídeos em Larga Escala
20.
Actas Dermosifiliogr ; 115(3): 246-257, 2024 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37913989

RESUMO

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.


Assuntos
Alumínio , Lasers de Corante , Lasers de Estado Sólido , Telangiectasia Hemorrágica Hereditária , Telangiectasia , Ítrio , Humanos , Lasers de Corante/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Neodímio , Estudos Prospectivos , Qualidade de Vida , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia/etiologia , Telangiectasia/radioterapia , Resultado do Tratamento
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