RESUMO
La atrofodermia idiopática de Pasini y Pierini es una entidad poco frecuente y de etiología aún no esclarecida, se presenta con una frecuencia hasta seis veces mayor en mujeres que en hombres y una posible asociación con la esclerodermia localizada (morfea). Paciente femenina de 30 años, quien consultó por una lesión asintomática de dos años de evolución en el glúteo izquierdo. En el examen físico se evidenció una placa ovalada, deprimida y acrómica en su centro, que mide cinco por diez centímetros. La paciente había sido tratada previamente con múltiples terapias tópicas sin obtener mejoría clínica. Se realizó la biopsia de piel que demostraba cambios mínimos en epidermis, homogenización y adelgazamiento de colágeno sin afección de anexos. Se hizo correlación con los hallazgos clínicos y se decidió iniciar tratamiento con esteroides intralesionales de alta potencia (acetónido de triamcinolona). Posterior a la administración de dos aplicaciones del medicamento, con cuatro semanas de diferencia entre ellas, se evidenció la resolución completa de la dermatosis. Un mes después de la última dosis la paciente no mostró recidivas
diopathic atrophoderma of Pasini and Pierini is a rare entity of unclear etiology, occurring as much as six times more frequently in women than in men, with a possible association with localized scleroderma (morphea). It is about a 30 years old woman who consulted with an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. A 30 years old female patient who consulted about an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. The patient was previously treated with multiple topical therapies without clinical improvement.Skin biopsy showed minimal changes in the epidermis, homogenization, and thinning of the collagen without adnexal involvement. After a correlation was made with the clinical findings, starting treatment with high-potency intralesional steroids (triamcinolone acetonide) was recommended. After administering two applications of the drug, four weeks apart, the complete resolution of the dermatosis was evidenced. One month after the last dose, the patient showed no recurrence
Assuntos
Humanos , Esclerodermia Localizada , Dermatopatias , El SalvadorRESUMO
La atrofodermia de Pasini-Pierini es una enfermedad rara con menos de 100 reportes de casos en la literatura, más frecuente en mujeres, predominando en la segunda o tercera década de la vida. Genera una atrofia a nivel dérmico, presentándose como una placa única o múltiple, de bordes bien definidos con un desnivel en profundidad. La causa es desconocida, se ha relacionado con infecciones por Borrelia Burgdorferi. En cuanto a los tratamientos disponibles, no existe un tratamiento comprobado de primera línea, se indica en algunos casos doxiciclina por periodos prolongados. Se presentan dos casos clínicos de la atrofodermia de Pasini-Pierini y se revisan las características de dicha entidad.
Summary: Atrophoderma of Pasini and Pierini is a rare disease, there being under 100 cases reported in literature. It is more frequent in women, and mainly occurs in their twenties or thirties. This condition results in dermal atrophy, and it may present as single or multiple plaques, with well-defined borders by differences in depth. The cause is unknown, although it has been related to Borrelia Burgdorferi infections. As to available therapies, there is no first line clinically proven treatment, although in some cases doxycycline is indicated for long periods. The study presents two clinical cases of atrophoderma of Pasini and Pierini and reviews the main characteristics of this condition.
A atrofodermia de Pasini-Pierini é uma doença rara com menos de 100 casos relatados na literatura; é mais frequente em mulheres, predominando na segunda ou terceira década de vida. Gera atrofia em nível dérmico, apresentando-se como placa única ou múltipla, com bordas bem definidas e depressão em relação à pele adjacente. A causa é desconhecida e tem sido associada a infecções por Borrelia burgdorferi. Em relação aos tratamentos disponíveis, não há tratamento comprovado de primeira linha, sendo a doxiciclina indicada por longos períodos em alguns casos. Apresentam-se dois casos clínicos de atrofodermia de Pasini-Pierini e faz-se uma revisão das características desta entidade.
Assuntos
Esclerodermia Localizada , Grupo Borrelia Burgdorferi , Doxiciclina/uso terapêuticoRESUMO
BACKGROUND: Linear atrophoderma of Moulin (LAM) is a dermatosis that affects children and adolescents characterized by hyperpigmented and atrophic linear lesions following Blaschko lines. So far, less than 50 cases have been published. Therefore, it is a rare entity with unknown etiology and a chronic and self-limited course. Histologically, it is described as hyperpigmentation of the basal layer without the involvement of the dermis and subcutaneous tissue. No specific treatment exists currently. Localized scleroderma is a chronic and progressive autoimmune connective tissue disorder that affects the skin and adjacent tissues, characterized by abnormal collagen deposition and alteration in elastic fibers, blood vessels, and annexes. No reports have been published on the coexistence of localized scleroderma and LAM. CASE REPORT: We describe the case of an 11-year-old male with a clinical diagnosis of linear scleroderma since 5 years of age. Four years later, the patient developed atrophic and hyperpigmented lesions following Blaschko lines in the posterior trunk. A biopsy of both dermatoses was performed: the trunk showed epidermis with hyperpigmentation of the basal layer, and within the dermis, no alteration in the collagen bundles; the forearm biopsy corroborated scleroderma. Based on the clinical-pathological correlation, LAM coinciding with localized linear scleroderma was diagnosed. CONCLUSIONS: LAM is an infrequent entity by itself. Moreover, its coexistence with sclerodermiform syndrome has not been reported in the indexed literature.
Assuntos
Hiperpigmentação , Esclerodermia Localizada , Adolescente , Atrofia/patologia , Biópsia , Criança , Humanos , Hiperpigmentação/diagnóstico , Hiperpigmentação/etiologia , Masculino , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/patologia , Pele/patologiaRESUMO
Resumen Es una enfermedad poco frecuente, descripta en 1992 por Moulin, que se presenta entre los 6 y los 20 años de edad, caracterizada por bandas hiperpigmentadas atróficas de distribución blaschkoide, localizadas principalmente en tronco, unilaterales, que no son precedidas por inflamación o cambios esclerodérmicos, induración ni adherencias a planos profundos. En general es una afección autolimitada, cuyos tratamientos resultan ineficaces. Presentamos el caso de un niño de 12 años, con lesiones en tronco compatibles con el diagnóstico de Atrofodermia lineal de Moulin (ALM).
Abstract It is a disease not very frequent, described in 1992 by Moulin, which occurs between 6 and 20 years of age, characterized by hyperpigmented atrophic bands distribution blaschokoide, mainly located in trunk, unilateral, that are not preceded by inflammation or changes sclerodermal, induration, or adhesions to deep. It is a self-limited condition, whose treatments are ineffective. We present the case of a boy, 12 years old, with atrophic, hyperpigmented and asymptomatic plates, distributed from the left mammary region to the homolateral back, following the lines of Blaschko. Refers that is started as a hyperpigmented macula and in recent years it has been atrophying, it is not accompanied by any symptomatology, and was not preceded by inflammatory. We performed laboratory test with complete blood count, renal function, liver function and antibody titers, which were normal; and incisional biopsy by punch, that reported, for a sample stained with hematoxylin-eosin, epidermis of variable thickness, canned, no cellular atypia or disorders madurativos. Dermis impresses discreetly thickened, with homogenization of collagen. Slight perivascular inflammatory infiltrate. With clinical and anatomopathology we arrive at the diagnosis of Linear atrophoderma of Moulin.
RESUMO
BACKGROUND: The diagnosis of idiopathic atrophoderma of Pasini and Pierini (IAPP) relies on typical clinical features, particularly distinctive pigmented ovular/round depressed plaques. Histologic examination often reveals no obvious changes, but patterns of collagen distribution, using multiphoton imaging and second harmonic generation can help track hidden details of tissue organization contributing to atrophy. OBJECTIVE: To identify histologic features that distinguish IAPP from unaffected skin. METHODS: Eleven patients were included for conventional analyses. Masson trichrome- and Unna-Tanzer orcein-stained sections were evaluated using automated morphometry. Hematoxylin-eosin-stained sections were analyzed by multiphoton imaging using 2-photon excited fluorescence and second harmonic generation. RESULTS: No abnormalities were found under light microscopy or by automated quantification. Multiphoton imaging revealed no difference in optical density of either collagen or elastic fibers in lesioned and unaffected skin; however, horizontal collagen fiber organization in lesion specimens increased toward the lower dermis, whereas elastic fibers featured greater disorganization within the upper dermis. LIMITATIONS: The low number of patients evaluated. CONCLUSION: The atrophic appearance of IAPP lesions reflects changes in organization, but not in collagen and elastic tissue content. Minute organizational differences that are imperceptible to the experienced pathologist and undetectable by automated analyses were revealed by multiphoton analyses, particularly second harmonic generation, in association with texture analyses.
Assuntos
Colágeno/ultraestrutura , Tecido Elástico/ultraestrutura , Esclerodermia Localizada/diagnóstico por imagem , Esclerodermia Localizada/patologia , Adolescente , Adulto , Atrofia/patologia , Biópsia por Agulha , Tecido Elástico/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Microscopia de Fluorescência por Excitação Multifotônica/métodos , Pessoa de Meia-Idade , Valores de Referência , Estudos de Amostragem , Estatísticas não Paramétricas , Adulto JovemRESUMO
El síndrome de Bazex-Dupré-Christol es una genodermatosis ligada al cromosoma X, la cual se caracteriza por presentar hipotricosis congÞnita, hipohidrosis, atrofodermia folicular, múltiples quistes de millium y carcinomas basocelulares. Presentamos a una niña y su familia con este síndrome. La paciente y sus hermanos de 5 meses de edad y de 17 años de edad presentaban múltiples quistes de millium e hipotricosis de las cejas y el cuero cabelludo. Su hermano de 8 años presentaba quistes de millium y atrofodermia folicular. Su madre presentaba hipohidrosis, hipotricosis congÞnita del cuero cabelludo y las cejas, así como también una lesión tumoral en la región paranasal derecha compatible con carcinoma basocelular. Destacamos la importancia del diagnóstico y del seguimiento clínico de estos niños por la posibilidad de desarrollar carcinomas basocelulares.(AU)
Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis. Her 8 year old brother had multiple milia and follicular atrophoderma. Her mother had hypohidrosis and congenital scalp and eyebrows hypotrichosis, as well as a right paranasal lesion suggestive of basal cell carcinoma. We emphasize the importance of precise diagnosis and clinical follow up of these patients due to the possibility of developing basal cell carcinomas.(AU)
RESUMO
El síndrome de Bazex-Dupré-Christol es una genodermatosis ligada al cromosoma X, la cual se caracteriza por presentar hipotricosis congènita, hipohidrosis, atrofodermia folicular, múltiples quistes de millium y carcinomas basocelulares. Presentamos a una niña y su familia con este síndrome. La paciente y sus hermanos de 5 meses de edad y de 17 años de edad presentaban múltiples quistes de millium e hipotricosis de las cejas y el cuero cabelludo. Su hermano de 8 años presentaba quistes de millium y atrofodermia folicular. Su madre presentaba hipohidrosis, hipotricosis congènita del cuero cabelludo y las cejas, así como también una lesión tumoral en la región paranasal derecha compatible con carcinoma basocelular. Destacamos la importancia del diagnóstico y del seguimiento clínico de estos niños por la posibilidad de desarrollar carcinomas basocelulares.
Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis. Her 8 year old brother had multiple milia and follicular atrophoderma. Her mother had hypohidrosis and congenital scalp and eyebrows hypotrichosis, as well as a right paranasal lesion suggestive of basal cell carcinoma. We emphasize the importance of precise diagnosis and clinical follow up of these patients due to the possibility of developing basal cell carcinomas.
Assuntos
Humanos , Colite Ulcerativa/diagnóstico , Colite Ulcerativa/genética , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Perfilação da Expressão Gênica , Biologia Computacional/métodos , Diagnóstico Diferencial , Regulação da Expressão Gênica , Redes Reguladoras de Genes , Genômica/métodos , Anotação de Sequência Molecular , Mapeamento de Interação de Proteínas , Mapas de Interação de ProteínasRESUMO
La atrofodermia lineal de Moulin es una patología poco frecuente que se presenta en niños sanos y adultos jóvenes. Se manifiesta con lesiones que siguen las líneas de Blaschko. Ocurre sin estar precedida de inflamación, induración, esclerodermia o atrofia epidérmica.Debemos hacer diagnóstico diferencial principalmente con atrofodermia idiopática de Pasini y Pierini y morfea. Tiene pronóstico favorable y no se la ha asociado a otras anomalías. Los tratamientos descritos han sido poco favorables. Presentamos el caso de unamujer de 15 años, con lesiones lineales en dorso y brazo, compatibles con atrofodermia lineal de Moulin.
The linear atrophoderma of Moulin is a rare disease that occurs in healthy children andyoung adults. It manifests with lesions along the lines of Blaschko. It occurs without precedinginflammation, induration, scleroderma or epidermal atrophy. Primarily, we shouldmake the differential diagnosis with idiopathic atrophoderma of Pasini and Pierini andmorphea. It has a favorable prognosis and it has not been associated with other anomalies.The treatments described have been unsuccessfull. We report a 15-year-old woman,with linear lesions on the back and arm compatible with linear atrophoderma of Moulin.
Assuntos
Humanos , Atrofia , Dermatopatias , Derme/patologia , Pele/patologiaRESUMO
Efectuamos una revisión de las denominadas atrofias circunscriptas de la piel, con énfasis en la anetodermia y la atrofodermia; ilustramos algunos casos vividos en los últimos años.(AU)
A review of the localized atrophies of the skin, focusing in the anetodermia and atrophoderma are made. Some of the cases from our Department of Dermatology are pictured.(AU)
RESUMO
Efectuamos una revisión de las denominadas atrofias circunscriptas de la piel, con énfasis en la anetodermia y la atrofodermia; ilustramos algunos casos vividos en los últimos años.
A review of the localized atrophies of the skin, focusing in the anetodermia and atrophoderma are made. Some of the cases from our Department of Dermatology are pictured.