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1.
Pediatr Dermatol ; 33(2): e65-8, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26823296

RESUMEN

Erythrosis pigmentosa peribuccalis is an infrequent condition, with fewer than 35 cases reported in the literature, that affects mainly women. It presents as small papules that form a hyperpigmented plaque around the mouth and nose. Little is known about the etiology of this condition, its dermoscopic characteristics have not been described, and no effective treatment has been reported. We report a 15-year-old girl with this rare dermatosis who was successfully managed with daily calcipotriol, weekly topical ivermectin, and strict photoprotection. We also describe for the first time the dermoscopic findings of this entity.


Asunto(s)
Dermatosis Facial/diagnóstico , Trastornos de la Pigmentación/diagnóstico , Piel/patología , Adolescente , Calcitriol/análogos & derivados , Calcitriol/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Dermoscopía/métodos , Diagnóstico Diferencial , Dermatosis Facial/tratamiento farmacológico , Femenino , Humanos , Ivermectina/uso terapéutico , Trastornos de la Pigmentación/tratamiento farmacológico , Pigmentación de la Piel
2.
Artículo en Inglés | MEDLINE | ID: mdl-39176469

RESUMEN

OBJECTIVES: Our study assessed the budget impact and cost per responder of upadacitinib15mg and 30 mg for moderate to severe atopic dermatitis (MS-AD) treatment from social security and private health sector perspective in Argentina. METHODS: A budget impact model was adapted to depict clinical and economic aspects of treatment over a 5-years horizon time. Scenario analyses and deterministic sensitivity analyses were performed. A 16-weeks cost per responder model was adapted based on a network meta-analysis. Primary analyses assessed the cost per Eczema Area and Severity Index 50, 75 and 90 at week 16. RESULTS: The inclusion of upadacitinib 15 mg and 30 mg in the biological treatment mix for MS-AD was associated with an average budget saving per-member per-month ofU$S0.062 (social security) and U$S0.064 (private sector). Percentage of patients with access to treatment, acquisition cost of upadacitinib 30 mg and prevalence of MS-AD were the most influential parameters in the budget impact results. At week 16, upadacitinib 30 mg was associated with the lowest number needed to treat and the lowest cost per responder for all outcomes. CONCLUSION: The introduction of upadacitinib in MS-AD treatment was associated with modest savings for the social security and private payer budget in Argentina.

3.
Rev Fac Cien Med Univ Nac Cordoba ; 81(2): 285-301, 2024 06 28.
Artículo en Español | MEDLINE | ID: mdl-38941228

RESUMEN

OBJETIVES: Obtain a version to validate it in a population of adults with AD. MATERIALS AND METHODS: 1) Translation into Spanish and cross-cultural adaptation of the questionnaire from the original version in English, through a seven-step process. 2) Evaluation of the unidimensionality of the resulting scale by means of an exploratory factor analysis (EFA), of its reliability by means of Cronbach's alpha coefficient, and of its validity by evaluating the correlation of its score with those of the POEM and DLQI questionnaires. (external reference criteria). RESULTS: The version resulting from the translation and cross-cultural adaptation process was well understood by the target population. The AFE of the 66 questionnaires documented the unidimensionality of the scale based on compliance with all the criteria used for its verification. Its reliability was excellent (Cronbach's Alpha: 0.917) and its score had a very high correlation with the external reference criteria (POEM: Spearman's Rho 0.85; p < 0.0001; DLQI Spearman's Rho = 0.81; p < 0 .0001). CONCLUSIONS: The version translated into Spanish and adapted for transculturation of the ADCT questionnaire has appropriate psychometric characteristics, which will contribute to optimizing the care processes of Spanish-speaking patients.


INTRODUCCIÓN: El cuestionario ADCT (Atopic Dermatitis Control Tool) permite objetivar en forma breve y autoadministrada la repercusión de la dermatitis atópica (DA) sobre la vida cotidiana de quien la padece. OBJETIVO: Obtener una versión validarla en una población de adultos con DA. MATERIALES Y METODOS: 1) Traducción al español y adaptación transcultural del cuestionario a partir de la versión original en inglés, a través de un proceso de siete pasos. 2) Evaluación de la unidimensionalidad de la escala resultante mediante un análisis factorial exploratorio (AFE), de su confiabilidad mediante el coeficiente alfa de Cronbach, y de su validez mediante la evaluación de la correlación de su puntaje con los de los cuestionarios POEM y DLQI (criterios externos de referencia). RESULTADOS: La versión resultante del proceso de traducción y adaptación transcultural fue bien comprendida por la población blanco. El AFE de los 66 cuestionarios documentó la unidimensionalidad de la escala a partir del cumplimiento de todos los criterios utilizados para su verificación. Su confiabilidad fue excelente (Alfa de Cronbach: 0,917) y su puntaje tuvo muy alta correlación con los criterios de referencia externos (POEM: Spearman's Rho 0,85; p < 0,0001; DLQI Spearman's Rho = 0,81; p < 0,0001). CONCLUSION: La versión traducida al español y adaptada transculturación del cuestionario ADCT tiene características psicométricas apropiadas, lo que contribuirá a optimizar los procesos de cuidado de pacientes de habla hispana.


Asunto(s)
Comparación Transcultural , Dermatitis Atópica , Traducciones , Humanos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios/normas , Dermatitis Atópica/diagnóstico , Adulto , Femenino , Masculino , Psicometría , Persona de Mediana Edad , Lenguaje , Calidad de Vida , Características Culturales
4.
Rev Fac Cien Med Univ Nac Cordoba ; 80(4): 523-537, 2023 12 26.
Artículo en Español | MEDLINE | ID: mdl-38150194

RESUMEN

Introduction: in one third of patients with psoriasis, symptoms start during childhood and adolescence, with a strong emotional and psychosocial impact. Objective: to develop a guideline for the systemic treatment of psoriasis in pediatric patients by means of recommendations based on the best available evidence. Materials and methods: Sources: articles indexed in PubMed, Epistemonikos, Google Scholar, Cochrane Library and Scielo, published between January 2010 and May 2022, in English, Spanish and Portuguese. Study selection: evidence-based clinical practice guidelines, systematic reviews, meta-analyses, randomized controlled studies, observational studies (case-control, cohort studies, real-life registries) and evaluations of biosimilar drugs in patients up to and including 17 years of age were considered. The keywords "psoriasis" and "treatment" were used in all three languages. Data extraction: the literature was evaluated using Grading of Recommendations Assessment, Development and Evaluation (GRADE) recommendations. Data synthesis: evidence tables were developed and analyzed by the expert committee. The questions for the development of recommendations were based on the PICO system (population, intervention, comparison, outcome). Results: A total of 8 recommendations and 7 points of good practice were developed. The direction and strength of the recommendations were expressed according to the GRADE system. Conclusions: the final decision on a specific therapy should be based on the best opinion of the treating physician, the individual characteristics, and the values and preferences of the patients and their caregivers.


Introducción: un tercio de los pacientes con psoriasis comienzan con sus síntomas en la niñez y la adolescencia, con fuerte impacto emocional y psicosocial. Objetivo: elaborar una guía de tratamiento sistémico de la psoriasis en pacientes pediátricos mediante recomendaciones fundamentadas en la mejor evidencia disponible. Materiales y métodos: Fuentes: artículos indexados en PubMed, Epistemonikos, Google Académico, Cochrane Library y Scielo, publicados entre enero de 2010 y mayo de 2022, en inglés, castellano y portugués. Selección de estudios: se consideraron guías de práctica clínica basadas en la evidencia, revisiones sistemáticas, metanálisis, estudios controlados y aleatorizados, estudios observacionales (casos y controles, estudios de cohortes, registros de la vida real) y evaluaciones de medicamentos biosimilares en pacientes de hasta 17 años de edad inclusive. Se utilizaron las palabras clave "psoriasis" y "tratamiento" en los tres idiomas. Extracción de datos: la bibliografía fue evaluada mediante las recomendaciones del sistema Grading of Recommendations Assessment, Development and Evaluation (GRADE). Síntesis de datos: elaboración de tablas de evidencia que fueron analizadas por el comité de expertos. Las preguntas para el desarrollo de recomendaciones se fundamentaron en el sistema PICO (población, intervención, comparación, outcome [desenlace]). Resultados: se elaboraron un total de 8 recomendaciones y 7 puntos de buena práctica. La dirección y fuerza de las recomendaciones se expresaron de acuerdo con lo sugerido por el sistema GRADE. Conclusiones: la decisión final de una terapia específica se fundamentará en la mejor opinión del médico tratante, las características individuales, y los valores y preferencias de los pacientes y sus cuidadores.


Asunto(s)
Lenguaje , Psoriasis , Adolescente , Niño , Humanos , Psoriasis/tratamiento farmacológico
5.
Dermatol Ther (Heidelb) ; 13(1): 95-114, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36527577

RESUMEN

Alopecia areata (AA) represents an underrecognized burden in Latin America (LA), severely impacting quality of life (QoL). This impact is exacerbated by limited access to specialized dermatologic care and therapies for AA within and among nations. Many of the unmet needs for AA globally also exist in LA. The region has geographic, ethnic, cultural, and economic conditions. With new AA medicines targeting immunologic pathways on the horizon, LA must prepare regarding regulatory issues, reimbursement, awareness, and education to give adequate and timely treatment for patients with AA. To address these issues, the Americas Health Foundation convened a panel of six dermatologists from Argentina, Brazil, Colombia, and Mexico who are experts in AA and its comorbidities for a 3-day virtual meeting to discuss AA diagnosis and treatment in LA and create a manuscript offering recommendations to address discussed barriers. This publication examines unmet AA needs in LA, treatment, and innovative therapies and recommends improving AA care. Access constraints to conventional and novel medicines hinder appropriate treatments for patients. Therapy initiation delays can affect QoL, mental health, and disease progression. People with AA face stigmas, discrimination, and misconceptions owing to a lack of disease awareness. With promising new treatments for AA on the horizon, all stakeholders must coordinate efforts to enhance LA's AA management landscape and improve patient outcomes.

6.
Front Pediatr ; 11: 1108207, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36969289

RESUMEN

During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in SAMD9L c.2666delT/p.F889Sfs*2 presenting with a complex phenotypic overlap of CANDLE-like features and severe infection-induced cytopenia and immunodeficiency. The patient underwent a fully matched unrelated HSCT and has since been in inflammatory remission 5 years post-HSCT.

7.
Pediatr Dermatol ; 29(4): 527-9, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-21906143

RESUMEN

Milia are common, small, keratin-containing cysts frequently seen in all age groups. They may arise spontaneously or develop after a variety of stimuli. They can be found alone or as part of syndromes. We present a female neonate born not only with profuse facial milia, but also with acral bullae and absent dermatoglyphics. Similar features were seen in several members of her family. These findings correspond to the syndrome known as Basan's syndrome, a rare autosomal-dominant inherited dermatosis characterized by profuse congenital milia, transient neonatal acral bullae, and absence of dermatoglyphics.


Asunto(s)
Dermatoglifia , Displasia Ectodérmica/patología , Salud de la Familia , Uñas Malformadas/congénito , Uñas Malformadas/patología , Anomalías Cutáneas , Adulto , Femenino , Humanos , Recién Nacido , Masculino
8.
Dermatol Online J ; 18(3): 8, 2012 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-22483519

RESUMEN

Eosinophilic annular erythema is a rare benign recurrent disease, originally described in children, characterized by the recurrent appearance of persistent non-pruritic, urticarial annular lesions. Histologically a perivascular infiltrate composed of lymphocytes and abundant eosinophils in the dermis is exhibited. We report the case of a 15-year-old boy who presented with a 4-year history of recurrent flares of erythematous annular plaques on the trunk and extremities. The lesions resolved spontaneously after 3-5 weeks with no accompanying signs. A biopsy showed a mainly perivascular lymphocytic infiltrate with numerous eosinophils in the dermis.


Asunto(s)
Eosinofilia/patología , Eritema/patología , Adolescente , Biopsia , Humanos , Masculino , Remisión Espontánea
9.
Rev Fac Cien Med Univ Nac Cordoba ; 79(4): 369-373, 2022 12 21.
Artículo en Inglés | MEDLINE | ID: mdl-36542583

RESUMEN

BACKGROUND: Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin condition that is associated with detrimental effects on the lives of patients and their families, including an impact on quality of life (QOL). Studies about QOL on Latin American AD patients are scarce and have generally included few patients. OBJECTIVE: describing AD impact on the QOL in a large cohort in Argentina. METHODS: a structured web-based survey including 1,650 AD pediatric and adult patients was performed. RESULTS: according to retrieved data, AD symptoms onset started during childhood in most patients, but 20 % of participants reported that manifestations of AD were initially perceived during late adolescence and adulthood. Important differences were observed among country regions, with a shorter time-to-diagnosis in most populated and richer districts. Main affected domains included frustration, anger, mood alterations, stress, sleep alterations, routine alterations, pain and economic impact of AD. LIMITATIONS: biases inherent to survey design. CONCLUSIONS: we consider that our study contributes to a better understanding of AD in Argentina, as well as its physical, social and financial impact on affected patients.


Asunto(s)
Dermatitis Atópica , Calidad de Vida , Adulto , Adolescente , Humanos , Niño , Argentina/epidemiología , Índice de Severidad de la Enfermedad , Internet
10.
Am J Clin Dermatol ; 21(Suppl 1): 12-17, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32910437

RESUMEN

The skin microbial communities, i.e., the microbiota, play a major role in skin barrier function so must remain dynamic to adapt to the changes in the niche environment that occur across the different body sites throughout the human lifespan. This review provides an overview of the major alterations occurring in the skin microbiome (microbial and genomic components) during the various stages of life, beginning with its establishment in the first weeks of life through to what is known about the microbiome in older populations. Studies that have helped identify the factors that most influence skin microbiome function, structure, and composition during the various life stages are highlighted, and how alterations affecting the delicate balance of the microbiota communities may contribute to variations in normal physiology and lead to skin disease is discussed. This review underlines the importance of improving our understanding of the skin microbiome in populations of all ages to gain insights into the pathophysiology of skin diseases and to allow better monitoring and targeted treatment of more vulnerable populations.


Asunto(s)
Envejecimiento/fisiología , Microbiota/fisiología , Enfermedades de la Piel/microbiología , Piel/microbiología , Factores de Edad , Humanos
11.
Rev Fac Cien Med Univ Nac Cordoba ; 77(2): 94-99, 2020 06 09.
Artículo en Español | MEDLINE | ID: mdl-32558511

RESUMEN

Introduction: Severe atopic dermatitis (AD) treatment is an unmet need, given the limited efficacy and safety of classical systemic treatments (CSTs). Dupilumab is a monoclonal antibody that blocks the signaling of the interleukins that mediate the inflammatory response involved in AD. Methods: the clinical response of a group of patients from Argentina with severe AD and insufficient response and/or toxicity to CSTs who were treated with dupilumab before commercial availability was analyzed. EASI, SCORAD, DLQI scales and analog visual scales of pruritus and sleep were evaluated, during a median follow-up of 189 days. In addition, the incidence of adverse events was analyzed. Results: 20 patients (13 male) were included; median age: 37.5 years; median AD evolution: 20 years; atopic comorbidity: 70%. 100% had received systemic corticosteroids (serious complications: 20%). Main reasons for discontinuation of CSTs were lack of efficacy and occurrence of adverse events. All scores were significantly and steadily reduced, with identifiable clinical response at the second month of treatment. At the end of the follow-up, only 3 patients required concomitant systemic immunosuppressive treatment. Dupilumab was well tolerated, with mild and controllable adverse events. Discussion: Dupilumab is the only biological agent with high efficacy demonstrated in clinical and observational studies. In this case series, its effectiveness was confirmed in difficult-to-treat patients with severe AD and inadequate response to CSTs. The safety profile was favorable and consistent.


Introducción: El tratamiento de la dermatitis atópica (DA) severa es una necesidad insatisfecha, dada la limitada eficacia y seguridad de los tratamientos sistémicos clásicos (TSC). Dupilumab es un anticuerpo monoclonal que bloquea la señalización de las interleuquinas mediadoras de la respuesta inflamatoria involucrada en la DA. Métodos: se analizó la respuesta clínica de un grupo de pacientes de Argentina con DA severa y respuesta insuficiente y/o toxicidad a los TSC que fueron tratados con dupilumab antes de su disponibilidad comercial. Se evaluaron las escalas EASI, SCORAD, DLQI y escalas visuales analógicas de prurito y sueño, durante una mediana de 189 días de seguimiento, así como la incidencia de eventos adversos. Resultados: Se incluyeron 20 pacientes (13 varones); mediana de edad: 37,5 años; mediana de evolución de la DA: 20 años; comorbilidad atópica: 70%. El 100% habían recibido corticoides sistémicos (complicaciones graves: 20%). Los principales motivos de suspensión de los TSC fueron falta de eficacia y aparición de eventos adversos. Los puntajes de todas las escalas se redujeron significativa y sostenidamente, con respuesta clínica evidente al segundo mes de tratamiento. Al final del seguimiento, solo 3 pacientes requerían tratamiento inmunosupresor sistémico concomitante. Dupilumab fue bien tolerado, con eventos adversos leves y controlables. Dsicusión: el dupilumab constituye el único agente biológico con elevada eficacia demostrada en estudios clínicos y observacionales. En esta casuística, se confirmó su efectividad en pacientes con DA severa de difícil tratamiento y respuesta inadecuada a los TSC. El perfil de seguridad resultó favorable y sostenido a mediano plazo.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Dermatitis Atópica/tratamiento farmacológico , Fármacos Dermatológicos/uso terapéutico , Adolescente , Adulto , Anciano , Argentina , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Adulto Joven
12.
Dermatol Online J ; 15(3): 6, 2009 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-19379650

RESUMEN

Cutaneous atypical leiomyoma is an unusual benign tumor arising from arrector pili muscle that shares histological features with uterine atypical or symplastic leiomyoma: atypical cellularity with pleomorphic nuclei but minimal or no mitosis. Six other cases have been reported so far and, in spite of its name and of being a smooth muscle proliferation, no recurrences nor metastasis have been reported.


Asunto(s)
Leiomioma/patología , Neoplasias Cutáneas/patología , Actinas/análisis , Anciano , Biomarcadores de Tumor/análisis , Desmina/análisis , Diagnóstico Diferencial , Femenino , Humanos , Leiomioma/química , Leiomioma/diagnóstico , Leiomiosarcoma/diagnóstico , Índice Mitótico , Proteínas de Neoplasias/análisis , Neoplasias Cutáneas/química , Neoplasias Cutáneas/diagnóstico
13.
J Dermatolog Treat ; 28(7): 631-634, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28489482

RESUMEN

OBJECTIVE: To describe dermatologists' methotrexate (MTX) prescription trends for the treatment of psoriasis, and to identify variables associated with suboptimal MTX use. METHODS: Cross-sectional study of dermatologists from Argentina who completed a pre-designed survey focussed on MTX prescription characteristics. A multiple logistic regression model was used to identify variables independently associated with suboptimal MTX use (when less than 12 weeks and less than 15 mg/week were administrated in patients with monotherapy before discontinuing or adding a second drug). RESULTS: Two hundred and twenty-one dermatologists participated in the study. Median time of practice in dermatology: 10 (IQR 3-15) years. MTX initial dose: 2.5-7.5, 10-15 and 20-30 mg/week in 52%, 41% and 7% of the participants, respectively. Suboptimal MTX use was observed in 76% of the participants. Thirty per cent of the participants responded that they considered MTX to be an ineffective drug. The only variable that was independently associated with suboptimal MTX use was the prescriber's personal consideration of MTX to be an ineffective drug (OR 2.29; 95%CI 1.05-5.00). CONCLUSION: A wide heterogeneity in the prescribing profile of MTX for the treatment of psoriasis was observed among Argentinean dermatologists. Suboptimal MTX use was identified in the majority of the prescribers.


Asunto(s)
Metotrexato/uso terapéutico , Psoriasis/tratamiento farmacológico , Argentina , Estudios Transversales , Vías de Administración de Medicamentos , Esquema de Medicación , Humanos , Oportunidad Relativa , Encuestas y Cuestionarios , Resultado del Tratamiento
14.
Int J Womens Dermatol ; 2(4): 140-142, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28492026

RESUMEN

Collodion baby is a term used to describe a phenotype characterized by the presence of a tight, translucent membrane that covers the entire skin at birth. This membrane usually sheds around 10 to 14 days and reveals the underlying disease (mainly different types of Recessive Ichthyosis or other infrequent disorders). A rare variant of this phenotype is known as acral self-healing collodion baby whereby the patients are born with the typical membrane but limited to the hands and feet only, and after it sheds, the skin appears completely normal. We report five cases of this very rare subtype of collodion baby. All the patient cases that are presented involved both hands and feet. One of the patients also had the umbilicus embedded in a subtle collodion membrane. None of the patients had a family history of the same entity or any other type of ichthyosis. In all patients, the condition resolved spontaneously within a few weeks and no patients developed any other manifestation. Although no molecular analysis was performed, we contribute to the knowledge of the clinical features of this extremely uncommon and benign entity, since to the best of our knowledge there are only two previous reports available in literature.

15.
Dermatol. argent ; 27(4): 164-166, oct. - dic. 2021. il
Artículo en Español | LILACS | ID: biblio-1382112

RESUMEN

El prurigo agudo es una patología sumamente frecuente y con múltiples etiologías, entre las cuales se encuentran los ácaros de las aves. La incidencia de esta dermatosis ha aumentado en el último tiempo. Existen diferentes parásitos que colonizan las aves y que, al tener contacto con el ser humano, generan lesiones papulosas de tipo prurigo. El agente causal más involucrado es Dermanyssus gallinae, no siempre hallado en el momento del examen físico. Se presenta el caso de una mujer con lesiones papulosas en el tronco y las extremidades, iniciadas luego del contacto con detritos de palomas.


Acute prurigo is an extremely frequent dermatosis with multiple etiologies, including bird mites. Recently, there has been an increase in the reported cases of human infestation cases caused by bird acarus. Many parasites colonize birds and the infestation to humans produces papular lesions. Dermanyssus gallinae is the most common acarus involved. We report a woman with papular lesions in trunk and extremities after contact with a bird nest.


Asunto(s)
Humanos , Animales , Masculino , Femenino , Adolescente , Columbidae , Enfermedades de la Piel/diagnóstico , Ácaros/patogenicidad , Enfermedades Parasitarias/diagnóstico , Prurigo/tratamiento farmacológico , Prurito , Infestaciones Ectoparasitarias
16.
Int J Dermatol ; 53(4): 458-61, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24168113

RESUMEN

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) is a recently described autosomal dominant disorder that results from mutations in RASA1. It has been initially described as multiple CMs affecting several members of the same family, associated with fast-flow malformations in at least one family member. OBJECTIVE: To report and analyze clinical data on 45 patients with CM-AVM assessed at the Department of Pediatric Dermatology, Ramos Mejía Hospital (Buenos Aires, Argentina). METHOD: Retrospective clinical review of all the patients clinically diagnosed as having CM-AVM over a period of eight years. RESULTS: Forty-five patients were recorded (24 females and 21 males). The age ranged from one month to 44 years. In 36 patients, the stains were congenital; progressive acquired lesions were observed in 39. Family history was positive in 32 subjects. Well defined, round to oval, pink-purple or reddish-brown macules were found in all the patients; pinpoint red lesions with a pale halo were found in nine cases. The macules were warmer than normal skin in 15 cases and surrounded by a white halo in 26 cases. Three subjects presented associated overgrowth, lymphatic malformation was present in one case, retinal vascular lesion in one patient, and isolated port wine stain in two cases. Three patients also had infantile hemangioma. We had no cases of fast-flow vascular malformation or combined vascular syndromes. CONCLUSIONS: CM-AVM is a heterogeneous disorder with phenotypic variability, from fast-flow malformation, limb enlargement, or Parkes Weber syndrome to multiple CMs without internal involvement.


Asunto(s)
Malformaciones Arteriovenosas/patología , Capilares/anomalías , Hemangioma/complicaciones , Mancha Vino de Oporto/patología , Neoplasias Cutáneas/complicaciones , Adolescente , Adulto , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/genética , Malformaciones Arteriovenosas/fisiopatología , Capilares/patología , Capilares/fisiopatología , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Anomalías Linfáticas/complicaciones , Masculino , Mancha Vino de Oporto/complicaciones , Mancha Vino de Oporto/genética , Mancha Vino de Oporto/fisiopatología , Estudios Retrospectivos , Temperatura Cutánea , Adulto Joven
17.
Arch Argent Pediatr ; 112(2): e61-5, 2014 Apr.
Artículo en Español | MEDLINE | ID: mdl-24584803

RESUMEN

Rapidly involuting congenital hemangiomas are very rare vascular tumours, that are characterized for being completely developed at birth and for involuting in a short period of time after birth. We describe a case series of 25 patients with rapidly involuting congenital hemangiomas. Twelve patients were male and 13 female; they were all born at term. Lesions were small in 17 cases and big in 8. No patient needed active intervention and all lesions showed a rapid initial involution.


Asunto(s)
Hemangioma/congénito , Femenino , Hemangioma/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Regresión Neoplásica Espontánea , Factores de Tiempo
18.
Dermatol. argent ; 22(1)2016. ilus
Artículo en Español | LILACS | ID: biblio-859131

RESUMEN

La verrugosis generalizada es un rasgo común a diferentes síndromes de inmunodeficiencia, cuyo prototipo es la epidermodisplasia verruciforme (EV). Se presenta una paciente con síndrome WILD (Warts, Immunodeficiency, Lymphoedema, anogenital Dysplasia), que consultó por verrugas profusas, con displasia genital y linfedema. La presencia de DNA para los papilomavirus de los grupos I y II se reveló con hibridización molecular por captura híbrida en microplaca para detección del DNA de HPV de lesiones de cuello uterino. La inmunofenotipificación en sangre periférica demostró población linfoide con moderado aumento de poblaciones NK y TNK, sin evidencia inmunofenotípica de población B clonal. Las verrugas planas mejoraron con retinoides sistémicos e imiquimod tópico. La displasia genital desapareció luego de la vacunación para HPV con vacuna cuadrivalente (AU)


Generalized verrucosis is a common characteristic of several immunodeficiency disorders whose prototype is the epidermodysplasia verruciformis. We report a patient with WILD SYNDROME (Warts, Immunodeficiency, Lymphoedema and anogenital Dysplasia) who consulted for profuse warts, genital dysplasia and limphoedema. The presence of DNA from papillomavirus groups I and II was revealed by molecular hybridization with hybrid capture in microplate for HPV DNA detection of uterine cervical lesions. Immunophenotyping in peripheral blood showed lymphoid population with moderate increase in NK and TNK populations without immunophenotypic evidence of clonal B population. Flat warts improved with systemic retinoids and topical imiquimod. The genital dysplasia disappeared after vaccination with quadrivalent HPV vaccine (AU)


Asunto(s)
Humanos , Masculino , Adulto , Piedra/diagnóstico , Trichosporon , Axila/microbiología , Infecciones
19.
An Bras Dermatol ; 84(4): 367-76, 2009.
Artículo en Portugués | MEDLINE | ID: mdl-19851669

RESUMEN

Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.


Asunto(s)
Enfermedad de Fabry , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Humanos , Enfermedades de la Piel/etiología
20.
Arch. argent. pediatr ; 112(2): e61-e65, abr. 2014. ilus, tab
Artículo en Español | LILACS | ID: lil-708486

RESUMEN

Los hemangiomas congénitos rápidamente involutivos son tumores vasculares muy poco frecuentes, que se caracterizan por estar completamente desarrollados al nacer (congénitos) y por tener una involución espontánea en un corto período (rápidamente involutivos). Describimos una serie de 25 casos de hemangiomas congénitos rápidamente involutivos, de los cuales 12 eran del sexo masculino y 13, femenino. Todos los pacientes eran nacidos a término, con peso adecuado para la edad gestacional. En 17, las lesiones fueron de pequeño tamaño y, en 8, de gran tamaño. Ningún paciente requirió tratamiento. En todos ellos, las lesiones mostraron una rápida involución inicial.


Rapidly involuting congenital hemangiomas are very rare vascular tumours, that are characterized for being completely developed at birth and for involuting in a short period of time after birth. We describe a case series of 25 patients with rapidly involuting congenital hemangiomas. Twelve patients were male and 13 female; they were all born at term. Lesions were small in 17 cases and big in 8. No patient needed active intervention and all lesions showed a rapid initial involution.


Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Masculino , Hemangioma/congénito , Hemangioma/diagnóstico , Regresión Neoplásica Espontánea , Factores de Tiempo
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