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Introduction Auricular acupuncture (AA) can be used for both diagnosis and therapy. Diagnosis done with AA has become more prominent, with inspection by evaluating skin alterations considered the most important step. Literature on AA diagnosis in cancer patients is scarce. Globally, breast cancer (BC) is the most commonly diagnosed cancer in women. Materials and methods Subjects accessing the outpatient Breast Unit Clinic of Padua for BC were evaluated for auricle angiomas, with collected data including a number of angiomas, Romoli's Sectogram sector of identified angiomas, laterality of the auricle with the angioma, age, and laterality of BC. Results Of the 438 subjects evaluated, 129 had BC, and 64 had an identifiable auricle angioma. The odds of an auricular angioma were higher in subjects with BC diagnosis, mainly localized in tumor area II and predominantly ipsilateral to the side affected by BC. Conclusions AA auricle inspection is a simple, quick, and easy diagnostic tool. Screening for the presence and location of auricular angiomas may help health practitioners refer women for BC screening for early diagnosis.
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A 43-year-old male was diagnosed with vitiligo and had been treated with topical nitrogen mustard at the age of 13. Following two years of treatment, eruptive cherry angiomas developed and presented as widely distributed red papules throughout his trunk and proximal limbs. Ceasing the use of nitrogen mustard slowed the emergence of lesions. This case highlights the potential adverse effects associated with nitrogen mustard treatment in individuals with susceptibility, as it may lead to the onset of eruptive cherry angiomas.
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Merkel cell carcinoma (MCC) is recognized as one of the most malignant skin tumors. Its rarity might explain the limited exploration of digital color studies in this area. The objective of this study was to delineate color alterations in MCCs compared to benign lesions resembling MCC, such as cherry angiomas and hemangiomas, along with other non-melanoma skin cancer lesions like basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), utilizing computer-aided digital color analysis. This was a retrospective study where clinical images of the color of the lesion and adjacent normal skin from 11 patients with primary MCC, 11 patients with cherry angiomas, 12 patients with hemangiomas, and 12 patients with BCC/SCC (totaling 46 patients) were analyzed using the RGB (red, green, and blue) and the CIE Lab color system. The Lab color system aided in estimating the Individual Typology Angle (ITA) change in the skin, and these results are documented in this study. It was demonstrated that the estimation of color components can assist in the differential diagnosis of these types of lesions because there were significant differences in color parameters between MCC and other categories of skin lesions such as hemangiomas, common skin carcinomas, and cherry hemangiomas. Significant differences in values were observed in the blue color of RGB (p = 0.003) and the b* parameter of Lab color (p < 0.0001) of MCC versus cherry angiomas. Similarly, the mean a* value of Merkel cell carcinoma (MCC) compared to basal cell carcinoma and squamous cell carcinoma showed a statistically significant difference (p < 0.0001). Larger prospective studies are warranted to further validate the clinical application of these findings.
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Objective: We aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Methods: We performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features. Results: WES allowed us to identify a previously unreported de novo splice site variant, c.1429-1G>T (NM_032682.6), in the FOXP1 gene (OMIM*605515) as the causative event underlying the phenotype. Clinical reassessment of the patient and revision of the literature allowed us to refine the phenotype associated with FOXP1 haploinsufficiency, including hyperkinetic movement disorder and flat angiomas as associated features. Interestingly, the patient also has an asymmetric face and choanal atresia and a novel de novo variant of the CHD7 gene. Conclusion: We suggest that FOXP1-related ID syndrome may also predispose to the development of hyperkinetic movement disorders and flat angiomas. These features could therefore require specific management of this condition.
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Breast cancer-associated genes 1 and 2 (BRCA1 and BRCA2) are tumor suppressor genes encoding a large protein that is involved in many essential biological processes. BRCA mutated patients show an increased risk to develop several malignancies, including cutaneous malignancies, although inconsistently across multiple studies. We carried out an observational study on the main dermatological and dermoscopic aspects in a population of patients with BRCA 1/2 mutations, to identify the main clinical and dermoscopical features in this class of patients. A total of 52 patients with BRCA mutations were included in the current analysis. Clinical, dermoscopical, and pathological data were obtained during the dermatologic visits. Out of the entire cohort, 67.3% of patients showed brown hairs and 63.5% of patients showed brown eyes, with phototype III as the most frequent phototype (69.2%). A total of 2.017 melanocytic lesions in all patients were analyzed; specifically, 40 patients (76.9%) showed a total number of nevi > 10, while regarding the main observed dermoscopic features, a prevalence of reticular pattern in 63% of cases was observed, followed by a mixed pattern in 19.2% of cases. Regarding the cutaneous examination, eruptive angiomas (eCAs) were the main dermatologic manifestations in 46.2% of patients. Out of 52 patients and during a follow-up of 24 months one patient developed an in situ melanoma. Interestingly, none of the patients with eCAs showed a TN > 10, highlighting an inverse correlation. To date, there is insufficient evidence to warrant increased surveillance in patients with BRCA mutations or with a positive family history for BRCA mutations, in the absence of standard cutaneous risk factors. Further studies with larger samples of patients are needed to better investigate dermatological and dermatoscopic features in BRCA mutation carriers.
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Immunoglobulin type gamma 4-related disease (IgG4-RD) is a fibroinflammatory condition that can have systemic and/or cutaneous manifestations. The most common cutaneous features are erythematous papules, nodules and/or plaques, typically involving the head and neck (J Am Acad Dermatol. 2016;75:197). We report a case of IgG4-RD presenting with eruptive cherry angiomas, a novel cutaneous presentation.
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Exantema , Hemangioma , Enfermedad Relacionada con Inmunoglobulina G4 , Enfermedades de la Piel , Hemangioma/complicaciones , Humanos , Inmunoglobulina G , PielRESUMEN
Purpose: To report a case of sudden paralysis after epidural analgesia to raise awareness of the condition and the importance of early identification and appropriate treatment of extradural venous angiomas. Clinical features: A 28-year-old man with myofascial pain syndrome experienced paraplegia after receiving an epidural block for pain relief, which was later discovered to be caused by hemorrhage from extradural venous angiomas. Decompression surgery was performed immediately and successfully. A follow-up examination was performed 5 months after surgery. The patient reported improvement in urinary retention. The muscle strength in both his lower extremities had recovered to 4 out of 5 but still exhibited considerable residual spasticity. Conclusions: Before administering epidural analgesia to relieve undetermined pain, it is prudent to carefully weigh potential benefits against potential risks to patient health to minimize the likelihood of complications.
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BACKGROUND: Cherry angiomas are common benign vascular skin lesions of unknown aetiology, found largely on the trunk. However, their exact anatomic distribution besides their truncal predisposition, and how they manifest in the general population, has not been characterised. METHODS: Three-dimensional (3D) total body imaging was obtained from 163 adult participants of a general population cohort study in Brisbane, Australia. Demographic, phenotypic, and sun behaviour characteristics were collected using a standard questionnaire along with history of melanoma and keratinocyte cancers. Cherry angiomas were identified using an automated classification algorithm with a sensitivity of 87% and a specificity of 99%, developed specifically for this study population. RESULTS: The 3D total body images of 163 participants were analysed. Participants had a median age of 57 years and 61% were male. On average, males had more angiomas than females (median of 16 vs. 12) and the number and size of cherry angiomas increased with age. In addition to male sex and age, an increase in angiomas was associated with Caucasian ancestry other than British/Irish only, fair skin colour opposed to medium/olive, having green/hazel eyes compared to blue/grey, and personal history of melanoma. The most common site for cherry angiomas was the front trunk, followed by the back. Interestingly, although males had more angiomas overall, females had more angiomas on the legs. CONCLUSION: Describing the distribution of cherry angiomas by body site is an important step towards further understanding of the aetiology of angiomas. While personal history of melanoma is associated with an increased number of cherry angiomas, whether this association is prognostic, co-occurs with development of melanoma, or is merely fortuitous requires further investigation.
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Hemangioma Capilar/epidemiología , Hemangioma/epidemiología , Neoplasias Cutáneas/epidemiología , Imagen de Cuerpo Entero/estadística & datos numéricos , Adulto , Australia/epidemiología , Femenino , Hemangioma/patología , Hemangioma Capilar/patología , Humanos , Imagenología Tridimensional , Masculino , Melanoma/epidemiología , Melanoma/patología , Persona de Mediana Edad , Factores de Riesgo , Piel/patología , Neoplasias Cutáneas/patología , Pigmentación de la PielRESUMEN
Acromegaly is a hormonal disorder which occurs as the result of growth hormone (GH) and insulin growth factor 1 (IGF-1) over-secretion; both hormones are related to skin anomalies. The skin acts as a large endocrine organ, hosting GH receptors in every cell while IGF-1 receptors are expressed only in keratinocytes. This review is a literature review of skin anomalies found in acromegaly, either related to the disease itself or associated with related complications such as secondary diabetes mellitus, or involving associated conditions such as genetic syndromes. The following clinical points are mentioned as follows. Excessive skin and enlargement of soft tissue are due to glycosaminoglycan deposits, edema, and hyperhidrosis (mostly facial and acral). Acanthosis nigricans, a body fold dermatosis associated with insulin resistance, involves local or diffuse hyperkeratotic plaques with or without hyperpigmentation, caused by growth factors including GH/IGF-1. Other findings include cherry angiomas (due to the effects of lipid anomalies on small vessels); oily skin features with keratosis, epidermoid cysts, crochordons, pseudo-acanthosis nigricans; a potentially higher prevalence of varicose veins and psoriasis; low level of evidence for basal cell carcinoma, respective hidroadenitis suppurativa has been noted. In addition, complicated uncontrolled secondary diabetes mellitus (DM) may result in necrobiosis lipoidica diabeticorum, diabetic dermopathy, skin bacterial infections, dermatological complications of diabetic neuropathy, and nephropathy. Finally, associated hereditary syndromes may cause collagenomas, fibromas/angiofibromas, lipomas in multiple endocrine neoplasia type 1 (MEN1) syndrome; café-au-lait macules, early onset neurofibromas, juvenile xanthogranuloma (involving non-Langerhans cell histiocytes), and intertriginous freckling in neurofibromatosis type 1. Clinical findings are differentiated from pseudo-acromegaly such as pachydermoperiostosis. Iatrogenic rash, lipodystrophy (lipoatrophy with/without lipohypertrophy) are rarely reported after pegvisomant/somatostatin analogues or after insulin use for DM. Experiments using human cell lines have shown that GH/IGF-1 over-secretion are prone to epithelial-to-mesenchymal transition (EMT) in melanoma. In non-acromegalic subjects, the exact role of GH/IGF-1 in skin tumorigenesis is yet to be determined. Skin in acromegaly speaks for itself, either as the first step of disease identification or as a complication or part of a complex syndromic context.
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INTRODUCTION: Cavernous angiomas of the brain (CCM) are being increasingly diagnosed, especially in the paediatric age group. Though classic presentations with haemorrhage or seizures are well recognised, presentation as a large lesion with mass effect is rare and creates difficulty in diagnosis as well as management. METHODS: Our cases of paediatric giant CCMs that presented as a 'mass lesion' are reported here, and the PubMed database for giant CCMs in the paediatric population is reviewed. All articles where the size of the lesion was reported to be > 4 cm were selected for analysis to study the varying modes of presentation, treatment, and outcome; to gain a proper perspective on this distinct entity of 'giant CCMs'. RESULTS: Analysis of a total of 53 cases (inclusive of our 3 cases) reported so far showed slight male preponderance (58.49%). The largest reported lesion was 14 cm in largest diameter. Most of the lesions (83.02%) occurred in the supratentorial region. In the infratentorial region, paediatric giant CCMs were more commonly seen in the cerebellum than in the brainstem. Seizures were observed in 47.17% at presentation. Features of mass effect were the mode of presentation in all our cases, and literature analysis has shown raised intracranial pressure in 37.74% (20 patients) and focal neurological deficit in 33.96% (18 patients) at presentation. Macrocephaly was seen in younger children up to the age of 7 years (16.98% or 9 patients). Gross total resection was carried out (with a good outcome) in all our cases and in 36 of the other 49 analysed patients who were operated on. DISCUSSION: About one-fourth of CCMs occur in paediatric patients. Giant CCMs are rare but can present in children even in the immediate post-natal period. Features of a mass lesion such as raised intracranial pressure, macrocephaly, and focal neurological deficit are much more common than their smaller counterparts. Their appearance on imaging also often causes diagnostic dilemmas with other intracranial mass lesions. Timely surgery with standard microsurgical principles leads to a favourable outcome in the majority. CONCLUSION: Giant CCMs, though rare, often present as a diagnostic challenge. Presentation with mass effect is common, and complete microsurgical excision remains the mainstay of treatment. Though transient neurological deficits may be encountered with this strategy, the long-term outcome remains favourable.
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Hemangioma Cavernoso del Sistema Nervioso Central , Hemangioma Cavernoso , Encéfalo , Tronco Encefálico , Niño , Humanos , Masculino , Convulsiones/etiologíaRESUMEN
ABSTRACT CONTEXT: Various skin manifestations have been reported in coronavirus disease. It may be difficult to determine the etiology of these lesions in view of the increased frequency of handwashing during the pandemic, along with occurrences of irritant contact dermatitis and allergic contact dermatitis due to disinfectant use; usage of herbal medicine and supplements to strengthen the immune system; and urticarial or maculopapular drug eruptions due to COVID-19 treatment. The variety of associated skin manifestations seen with COVID-19 makes it challenging to identify virus-specific skin manifestations. Petechiae, purpura, acrocyanosis and necrotic and non-necrotic purpura, which can be considered as manifestations of vascular involvement on the skin, have been reported. CASE REPORT: Here, we report a case of eruptive cherry angiomas, which was thought to have developed due to COVID-19, with a papulovesicular rash on distal extremities that progressed over time to reticular purpura. CONCLUSION: The case presented had a papulovesicular rash at the onset, which evolved to retiform purpura, and eruptive cherry angiomas were observed. It should be kept in mind that dermatological signs may vary in patients with COVID-19.
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Humanos , Masculino , Femenino , Persona de Mediana Edad , Púrpura/virología , Piel/virología , Enfermedades Cutáneas Virales/virología , Exantema/virología , COVID-19/complicaciones , COVID-19/virología , Hemangioma/virología , Piel/efectos de los fármacos , Piel/patología , Resultado del Tratamiento , Enfermedades Cutáneas Virales/diagnóstico , Enfermedades Cutáneas Virales/terapia , Prueba de COVID-19 , SARS-CoV-2 , COVID-19/tratamiento farmacológico , COVID-19/terapiaRESUMEN
OBJECTIVE: Opto-chiasmatic (OC) cavernous malformations are sporadic lesions that are often misdiagnosed clinically and radiologically. Presenting symptoms range from incidental findings to the more frequent and dramatic "chiasmal apoplexy." The present study aims to evaluate the potential role of arachnoidal membranes of the basal cisterns in the onset of OC apoplexy. A possible mechanism resembling a compartment syndrome is discussed through the description of two cases of bleeding cavernomas. METHODS: We describe clinical, radiological, intraoperative findings in two cases of young patients presenting with OC apoplexy from bleeding cavernoma. The first was a 38-year-old man diagnosed with optic neuritis at the first episode of visual acuity deterioration. The second patient was a 22 -year-old woman who suffered two OC apoplexy episodes from a recurrence, which also presented with bleeding. RESULTS: Both patients were operated on via pterional craniotomy and presented a postoperative improvement of visual symptoms. The second patient experienced deterioration 30 months after surgical resection due to rebleeding from a recurrence and required a second operation. Follow-up revealed a good recovery of visual disturbances; MRI at 6 and 3 years showed in both patients an apparent complete removal of the cavernous malformations. CONCLUSION: The cisternal environment where OC cavernous malformations develop and the paradigm of a compartment syndrome could explain the clinical presentation variability. This very rare subset of cavernomas would benefit from a classification system using ad hoc neuroimaging protocols and consistent indications.
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Hemangioma Cavernoso/complicaciones , Hemangioma Cavernoso/patología , Quiasma Óptico/patología , Neoplasias del Nervio Óptico/complicaciones , Neoplasias del Nervio Óptico/patología , Adulto , Síndromes Compartimentales/etiología , Femenino , Hemangioma Cavernoso/cirugía , Hemorragia/etiología , Humanos , Masculino , Neoplasias del Nervio Óptico/cirugía , Accidente Cerebrovascular/etiología , Adulto JovenRESUMEN
BACKGROUND: Cavernous sinus hemangiomas (CSHs) are extraaxial vascular malformations that tend to bleed during surgery. METHODS: We reviewed 12 magnetic resonance imaging scans with CSH, 5 of them biopsy proven. RESULTS: In our review, CSH commonly presented as a lobulated mass with high, uniform signal intensity on T2-weighted images, a dumbbell shape, and a sellar extension. Two thirds presented a "filling-in" pattern of enhancement on dynamic imaging. These features should lead to a correct preoperative diagnosis, which is essential for surgical planning and avoiding hemorrhagic complications. CONCLUSIONS: A combination of low signal on T1, high signal on T2 and fluid-attenuated inversion recovery, no diffusion restriction and homogenous enhancement should place CSH at the top of the list of differential diagnoses. This is especially true when there is a "filling-in" pattern on dynamic or delayed imaging. Doing so may alert surgeons to the possibility of copious intraoperative bleeding and therefore avoid complications of hemorrhage.
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Seno Cavernoso/cirugía , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Hemangioma Cavernoso/patología , Hemangioma Cavernoso/cirugía , Adulto , Seno Cavernoso/patología , Diagnóstico Diferencial , Pruebas Diagnósticas de Rutina , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Senos Paranasales/patología , Senos Paranasales/cirugíaRESUMEN
The study of vascular anomalies, "angiomas", vascular tumours and vascular malformations is made difficult by the great variety and confusion of the names used in the literature for these diseases, some of which are rare. The great merit of the classification proposed by the International Society for the Study of Vascular Anomalies (ISSVA), adopted in 2014 and modified in 2018, is to propose a unambiguous nomenclature and to try to group these lesions in a logical way, contrasting with the lists of the usual "classifications". This classification is based on the distinction between proliferative lesions (tumours and reactive lesions) and those which are due to a congenital anomaly of vascular morphogenesis (vascular malformations). It incorporates recent data on the molecular causes of these diseases. The major groups of lesions recognised in this classification will be presented and some lesions of interest briefly discussed. This classification aims to be usable by all medical specialties and applicable to all tissues and organs, even if efforts are still needed to integrate organ-specific names in order to unify the nomenclature and eliminate confusion. Even if it does not solve all the problems in this complex field, the unification of the nomenclature is a major contribution of this classification and pathologists are strongly encouraged to refer to it in daily practice.
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Hemangioma , Malformaciones Vasculares , Neoplasias Vasculares , Humanos , Malformaciones Vasculares/diagnósticoRESUMEN
BACKGROUND: Some risk factors for malignant melanoma (MM) are recognized. OBJECTIVE: To compare the strength of association between MM and eruptive cherry angiomas (CAs) with that of other well-known associations. METHODS: This cross-sectional study included all subjects referred to the Outpatient Dermatology-Oncology and Dermoscopy Units of the Universities of Ferrara and Bologna, Italy, over a 5-month period and submitted to total body skin examination. We recorded: age, sex, cutaneous and non-cutaneous malignancies, presence of CAs, arbitrarily considered as "eruptive" when >10, >40 common melanocytic naevi or >2 clinically atypical naevi. The strength of association between the possible risk factors and MM was calculated by odds ratio in both the whole population and age quartiles. Variables associated with MM were included in multiple logistic regression analysis. RESULTS: 1,190 subjects were included; 615 had malignant skin tumours, 462 MM, 85 extracutaneous tumours. Five hundred and eighty-seven subjects had eruptive CAs, 485 subjects >40 melanocytic naevi and 368 more than 2 atypical melanocytic naevi. Eruptive CAs, especially in subjects younger than 70, and >2 atypical melanocytic naevi, mostly in subjects older than 50, were significantly associated with MM. The strength of these 2 associations was similar. The presence of >40 melanocytic naevi was not associated with MM. CONCLUSIONS: These findings confirmed an association between MM and eruptive CAs, which was as strong as the one between MM and >2 atypical melanocytic naevi. CAs seem an intriguing model of interaction between heterogeneous variables, like immunocompetence, stimuli inducing endothelial cell proliferation, and oncogenesis, which deserves further investigation.
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Hemangioma/complicaciones , Melanoma/complicaciones , Nevo Pigmentado/complicaciones , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/patología , Adulto , Anciano , Estudios Transversales , Femenino , Hemangioma/patología , Humanos , Italia , Modelos Logísticos , Masculino , Melanoma/patología , Persona de Mediana Edad , Nevo Pigmentado/patología , Oportunidad Relativa , Factores de RiesgoRESUMEN
Cavernous angiomas are congenital vascular malformations that affect the central nervous system. Reports implicated radiation therapy as a triggering factor for the formation of cavernomas but not in relation with head and neck radiation therapy. Radiation-induced cavernomas (RIC) should be considered in the differential diagnosis of focal neurological symptoms in any patient who has received previous cranial-spinal or head and neck radiotherapy.
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Angiomas are vascular abnormalities that affect less than 1% of the world's population. Data on these disorders in Africa are limited. The purpose of our work was to study the epidemiological and clinical aspects of angiomas in the Dermatology-Venerology Department of the University Hospital of Yalgado Ouedraogo in Ouagadougou (Burkina Faso) to contribute to improving knowledge of this group of pathologies in our region. This cross-sectional descriptive, retrospective, and prospective study covers cases from 1998 through 2014. We identified 61 patients with angioma, 67.2% of them younger than 30 months. The sex ratio was 0.56. Vascular tumors (hemangiomas) accounted for 43 cases (70.5%) and vascular malformations 18 (29.5%). Lesions appeared between 0 and 15 days of life in 57.4% of cases. Their size ranged from 1 to 3 cm in 49.2% of cases. They were most frequently located on the head (49.2%). The most frequent clinical forms were cutaneous hemangiomas (tuberous) (36 cases), followed by the nevus flammeus (8 cases), and mixed hemangiomas (7 cases). Only one complex forms was observed: one case of Klippel-Trenaunay syndrome. Superficial vascular abnormalities are rare in our dark skin type context including infantile hemangiomas. The clinical peculiarities of the angiomas observed in this African series in Ouagadougou seem quite similar to the characteristics described in European and American series.
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Hemangioma/diagnóstico , Hemangioma/epidemiología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/epidemiología , Adolescente , Adulto , Burkina Faso , Niño , Preescolar , Estudios Transversales , Femenino , Hospitales Universitarios , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Estudios Retrospectivos , Adulto JovenRESUMEN
The use of 1060-nm wavelength light emitted from a high-power diode laser is a novel method for the removal of vascular lesions. Two Caucasian women with Fitzpatrick skin phototype II, who had various vascular lesions, were treated with a 1060-nm high-power diode laser, applying a fluence of 120 J/cm2 and a single pulse duration of 74 milliseconds. Immediate results were that the cherry angiomas became dark and a scab was formed (that remitted 2 weeks after treatment); the telangiectasias and venulectasias disappeared immediately. This technology has reported effective and safe results for removing different types of vascular lesions in the two patients treated. Side effects were those expected for this technique.