Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)

Pigmented purpura and cutaneous vascular occlusion syndromes

Abstract: Purpura is defined as a visible hemorrhage in the skin or mucosa, which is not evanescent upon pressure. Proper classification allows a better patient approach due to its multiple diagnoses. Purpuras can be categorized by size, morphology, and other characteristics. The course varies according to the etiology, as do the diagnostic approach and treatment. This review discusses pigmented purpuras and some cutaneous vascular occlusion syndromes.

Bilateral acute depigmentation of the iris: a case report / Despigmentação aguda bilateral da íris: um relato de caso

ABSTRACT Bilateral acute depigmentation of the iris (BADI) is a new clinical entity of unknown etiology and is characterized by bilateral, symmetrical, and simultaneous depigmentation of the iris with focal or diffuse stromal atrophy; this condition generally has a good prognosis. We present a case of a 26-year-old woman who noted a spontaneous change in the iris color in both eyes in the last 2 months. The ophthalmological findings were atrophy of the iris stroma and pigmentation of the trabecular meshwork, without affecting the pigmented epithelium of the iris. Her intraocular pressure was normal and the visual acuity was 20/20 in both eyes.

RESUMO A despigmentação aguda bilateral da íris (DABI) é uma nova entidade clínica caracterizada pela despigmentação bilateral, simétrica e simultânea da íris, com atrofia focal ou difusa do seu estroma, geralmente com bom prognóstico. Apresentamos o caso de uma mulher de 26 anos de idade que procurou atendimento médico em nosso serviço com queixa de mudança espontânea na cor da íris de ambos os olhos nos últimos dois meses. Os achados oftalmológicos observados durante o exame clínico foram atrofia do estroma da íris e pigmentação da malha trabecular, sem afetar o epitélio pigmentado da íris. A pressão intraocular era normal e acuidade visual de 20/20 em ambos os olhos.

Dermatosis cenicienta: revisión y diagnóstico diferencial con otros trastornos pigmentarios idiopáticos / Ashy dermatosis: revision and differential diagnosis with other idiopathic pigmentary disorders

La dermatosis cenicienta es un trastorno pigmentario infrecuente que se presenta en individuos de piel morena, especialmente en centroamericanos. Las lesiones consisten en manchas hiperpigmentadas de coloración gris-azulada, principalmente localizadas en la cara, tronco y brazos. Su principal diagnóstico diferencial debe ser planteado con tres dermatosis pigmentarias de origen idiopático: eritema discrómico perstans, pigmentación macular eruptiva idiopática y liquen plano pigmentoso. Hay consenso en considerar al eritema discrómico perstans como la misma enfermedad, pero con un borde eritematoso transitorio. La pigmentación macular eruptiva idiopática es clínicamente similar, pero sin una dermatitis de interfase al estudio histopatológico, y sólo muestra una pigmentación de la capa basal, incontinencia pigmentaria y melanófagos en la dermis. Finalmente, el liquen plano pigmentoso debe ser considerado como una variedad pigmentada de liquen plano.

Ashy dermatosis is an infrequent disorder of pigmentation, which predominantly occurs in darkly pigmented individuals, specially in central americans. The lesions consist of bluish-gray hyperpigmented patches mainly located on the face, trunk and arms. Its main differential diagnosis must be raised with three idiopathic pigmentary disorders: erythema dyschromicum perstans, idiopathic eruptive macular pigmentation and lichen planus pigmentosus. It has been widely accepted that erythema dischromicum perstans is the same disease, but with a transient erythematous border. Idiopathic eruptive macular pigmentation is clinically similar but without an interfase dermatitis at histopathologic studies, only showing increased pigmentation of the basal layer and pigmentary incontinence and many melanophages in the dermis. Finally, lichen planus pigmentosus must be considered as a pigmented variant of lichen planus.

Liquen aureus / Lichen aureus

El liquen aureus es una dermatosis purpúrica pigmentaria crónica. Se caracteriza por la presencia de máculas, pápulas y placas de color marrón dorado, localizadas en los miembros inferiores. A nivel histológico se observaz un infiltrado linfocítico liquenoide y perivascular, con extravasación de eritrocitos en la dermis. La dermatoscopia evidencia un patrón purpúrico moteado sobre un fondo amarillento. Se presenta el caso de un paciente de 19 años que consultó por máculas, pápulas y placas de color marrón dorado, asintomáticas, ubicadas en la cara externa del muslo izquierdo, de 7 meses de evolución. Se realizó dermatoscopia y estudio histopatológico, e inició tratamiento con tacrolimus ungüento al 0,1%, con mejoría clínica sin progresión del cuadro (AU)

Lichen aureus is a chronic pigmentary purpuric dermatosis. Clinically is characterized by macules, papules and plaques of golden-brown coloration, located in lower extremities. Histologically by a lichenoid and perivascular lymphocytic infiltrate with extravasation of erythrocytes in the dermis. Dermoscopy show a speckled purpura pattern on a yellowish background. We report a 19 year old man who presented asymptomatic macules, isolated papules and golden-brown plaques on his left thigh for 7 months. Dermoscopy and histopathology study confirmed the diagnosis and treatment with tacrolimus 0.1% ointment was indicated, achiving clinic improvement and no progression of previous lesions (AU)

Eritema discromicum perstans (EDP) o dermatosis cenicienta: revisión a propósito de dos casos / Erythema discromicum perstans (EDP) or cystic dermatosis: review of two cases

El eritema discromicum perstans (EDP) o Dermatosis cenicienta es una entidad clínica poco común, de curso crónico e irreversible. Se presenta como máculas hiperpigmentadas color gris-ceniza, de tamaño y forma variable, distribuidas en cara, tronco, y extremidades. En Chile existen pocos casos reportados. La etiología es actualmente desconocida. Los hallazgos histopatológicos no son específicos de EDP, por lo que el diagnóstico es clínico e histopatológico. Aunque se han reportado múltiples opciones de tratamiento, ninguno ha demostrado ser efectivo de manera consistente. Presentamos dos casos de EDP y una revisión de los principales aspectos clínicos, epidemiológicos e histopatológicos de esta entidad.

Erythema dyschromicum perstans (EDP) or cinderella Dermatosis is an uncommon clinical entity, of chronic and irreversible course. Clinically it appears as hyper pigmented gray-ashy macules, of variable size and shape, distributed on face, trunk, and extremities. There are few cases reported on Chile. Etiology is currently unknown. The histopathological features are not characteristic of EDP, so the diagnosis is based upon clinical findings plus histopathology. Although there are several treatment options, none of them have been demonstrated to be consistently effective. We present two cases of EDP and a review of the clinical, epidemiological, and histopathological features of this entity.

Acropigmentación reticulada de Dohi: revisión de genodermatosis con pigmentación reticular a partir de un caso clínico / Reticulated acropigmentation of Dohi: review of genodermatosis with reticular pigmentation

La acropigmentación reticulada de Dohi (ARD) o discromía simétrica hereditaria se encuentra dentro de los desórdenes con pigmentación reticular hereditaria. Es una rara entidad que se describió por primera vez en 1929 en Japón por Toyama. Presenta herencia autosómica dominante y el gen responsable se encuentra en el cromosoma 1q21 que codifica para una proteína ARN-adenosina desaminasa (ADAR1 o DSRAD). A pesar, que es un desorden benigno y no reviste complicaciones suele ser estéticamente desfigurante. A continuación, se presenta un caso clínico y se realizará una revisión de la literatura de los otras genodermatosis con pigmentación reticular.

Hereditary symmetric dyschromatosis, also known as reticulated acropigmentation of Dohi is included within a spectrum of reticulate pigment disorders of the skin. It’s a pigmentary disorder characterized by the presence of hypopigmented and hyperpigmented macules giving a reticular pattern in acral areas. It is a rare entity first described in 1929 by Toyama in Japan. It has autosomal dominant inheritance and the responsible gene codes for an RNA adenosine deaminase protein (ADAR1 or dsRAD) on chromosome 1q21. Although, it`s a benign disorder, it can be aesthetically disfiguring. We present a case report and review of the literature of genodermatosis with reticular pigmentation.

Hallazgos dermatoscópicos en las dermatosis purpúras pigmentadas / Dermoscopy of pigmented purpuric dermatosis

Las Dermatosis Purpúricas Pigmentadas (DPP) son un grupo de desórdenes concaracterísticas clínico-histológicas similares y etiología desconocida. El patrón clínico consiste en lesiones purpúricas sobre una base hiperpigmentada, distribuidasgeneralmente de forma simétrica en miembros inferiores. En la mayoría de los casos su diagnóstico clínico es simple, aunque se confirma conla histología. Presenta una amplia lista de diagnósticos diferenciales que debemos descartar ante la aparición de lesiones sospechosas. Realizamos el estudio clínico, dermatoscópico e histopatológico de diez casos deDPP, encontramos en todos un patrón dermatoscópico característico denominado patrón purpúrico moteado, compuesto por puntos, glóbulos o parches rojos, que se encuentra sobre una pigmentación difusa marrón cobriza. Consideramos que estos hallazgos son útiles para confirmar la sospecha clínica...

Pigmented eccrine poroma: report of an atypical case with the use of dermoscopy / Poroma ecrino pigmentado: relato de caso atipico com descricao da dermoscopia

Poromas are uncommon benign neoplasms originating from the terminal ductal portion of the sweat glands, mainly characterized by skin-colored or pink pa pules or nodules, usually on the extremities. Due to their rarity, the pigmented form clinical hypothesis is hardly ever suggested and psychopathology is fundamental. We report a case of pigmented eccrine poroma in the right palmer area, a location considered atypical. We stress the importance of dermoscopy as a method for diagnosis of poromas, especially in the differential diagnosis with other pigmented nodular-popular lesions.

Os poromas são neoplasias benignas incomuns oriundas das porções ductais terminais das glândulas sudoríparas. Caracterizam-se principalmente por pápula ou nódulo cor da pele ou róseo, em geral nas extremidades. Devido à raridade, a hipótese clínica da forma pigmentada dificilmente é aventada, sendo fundamental a histopatologia. Relata-se caso de poroma écrino pigmentado na região palmar direita, localização considerada atípica. Ressalta-se a importância da dermoscopia como método auxiliar no diagnóstico do poroma e, principalmente, no diagnóstico diferencial com outras lesões pápulo-nodulares pigmentadas.

Mongolian spots.

Mongolian spots (MS) are birthmarks that are present at birth and their most common location is sacrococcygeal or lumbar area. Lesions may be single or multiple and usually involve < 5% total body surface area. They are macular and round, oval or irregular in shape. The color varies from blue to greenish, gray, black or a combination of any of the above. The size varies from few to more than 20 centimetres. Pigmentation is most intense at the age of one year and gradually fades thereafter. It is rarely seen after the age of 6 years. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although regarded as benign, recent data suggest that MS may be associated with inborn errors of metabolism and neurocristopathies. Mongolian spots usually resolve by early childhood and hence no treatment is generally needed if they are located in the sacral area. However, sometimes it may be required for extrasacral lesions for cosmesis.

Langerhans Cell Histiocytosis Presenting with Hypopigmented Macules.

Langerhans cell histiocytosis (LCH) is a complex disease characterized by proliferation of the Langerhans cells. The clinical course is variable and ranges from a solitary lytic bone lesion or skin lesion with complete remission to a multisystem disorder with possible lethal outcome. The diagnosis is suspected by clinical signs and symptoms and radiological features commonly in craniofacial bones and skin lesions. Diagnosis is confirmed by biopsy and immunohistochemical studies. We present case of a 8 year old child presenting with proptosis, diabetes insipidus and hypopigmented macules on chest and back showing bilateral distribution which is a rare presentation. Skin biopsy revealed the diagnosis of Langerhans cell histiocytosis.

Case for diagnosis / Caso para diagnóstico

Pigmentary demarcation lines are physiologically abrupt transition lines from areas of deeper pigmentation to less pigmented areas. They are most often seen in African and Japanese individuals and rarely observed in Caucasians. There are eight types of pigmentary demarcation lines. The one described here, type B, is restricted to women and is associated with pregnancy in non-black patients. This type of pigmentary demarcation line occurs in the posterior aspect of the legs, extending from the perineum to the ankle. Its distribution follows the Voigt's lines, which define the distribution of peripheral nerves. Its pathogenesis remains unknown. Expectant treatment is used, and good results have been reported with the use of Q-switched Alexandrite laser.

Linhas de demarcação pigmentar são linhas fisiológicas que correspondem a transições abruptas entre áreas mais escuras e mais claras. São mais comuns em africanos e japoneses, mas raras em brancos. Há 8 tipos, sendo a aqui descrita, tipo B, restrita a mulheres e relacionada a gestação em não negras. Este tipo de linha de demarcação pigmentar ocorre na face posterior dos membros inferiores estendendo-se do períneo ao tornozelo. Estas se localizam nas linhas de Voigt que são o trajeto dos nervos periféricos. Sua fisiopatogenia é incerta. O tratamento é expectante com relato de bom resultado com Q-switchedAlexandrite laser.

Bilateral acute depigmentation of the iris (BADI): first reported case in Brazil / Despigmentação aguda bilateral da íris (BADI): primeiro relato de caso no Brasil

Bilateral acute depigmentation of the iris (BADI) is a recently described entity characterized by acute onset of pigment dispersion in the anterior chamber, depigmentation of the iris, and heavy pigment deposition in the anterior chamber angle. Involvement is always bilateral, simultaneous, and symmetrical. We report the case of a 61-year-old man who presented with bilateral ocular pain, red eyes, and severe photophobia. Examination revealed a dense Krukenberg spindle, heavy pigment dispersion in the anterior chamber, extensive transillumination iris defects, and a heavy pigment deposition in the trabecular meshwork bilaterally. Intraocular pressure increased to 48 mmHg in both eyes. The patient received topical steroids, maximum hypotensive treatment and oral valacyclovir. Intraocular pressure gradually decreased throughout the second and third months, and medications were gradually tapered. The time to complete resolution of pigment dispersion was 18 weeks. Visual acuity and visual fields remained normal, but the photophobia was permanent.

Despigmentação aguda bilateral da íris (BADI) é uma nova doença caracterizada pela despigmentação aguda da íris, dispersão de pigmentos na câmara anterior e intensa deposição de pigmentos no seio camerular. O acometimento é sempre bilateral, simultâneo e simétrico. Relatamos o caso de um paciente de 61 anos, com dor ocular bilateral aguda, hiperemia e intensa fotofobia. Ao exame, apresentava denso fuso de Krukenberg, importante dispersão de pigmentos na câmara anterior, extensos defeitos à transiluminação iriana e densa deposição de pigmentos no seio camerular em ambos os olhos. O paciente recebeu corticoide tópico, terapia hipotensora máxima e valacyclovir oral. A pressão intraocular chegou a 48 mmHg em ambos os olhos mas foi reduzindo gradativamente ao longo do segundo e terceiro meses, permitindo a suspensão gradativa da medicação. A resolução completa da dispersão pigmentar demorou 18 semanas. A acuidade e os campos visuais permaneceram normais, mas o paciente manteve a fotofobia.

Alterações cutâneas no Kwashiorkor: relato de caso de um homem adulto após cirurgia abdominal / Cutaneous manifestations of kwashiorkor: a case report of an adult man after abdominal surgery

Kwashiorkor é um tipo de desnutrição proteico-energética em que há deficiência dietética de proteína, embora a ingestão de calorias se mantenha adequada. As manifestações cutâneas incluem pele xerótica, com aspecto de esmalte descascado, típica coloração avermelhada a branco-acinzentada dos cabelos, o sinal da bandeira e edema mais evidente, nos membros inferiores e na face, dando aspecto de lua cheia. O presente artigo relata o caso de um paciente adulto, do sexo masculino, previamente submetido à duodenopancreatectomia para tratamento de pancreatite crônica associada ao pseudotumor em cabeça de pâncreas que evoluiu com alterações cutâneas de kwashiorkor após tuberculose pulmonar.

Kwashiorkor is a type of protein-energy malnutrition where diet protein deficit is found, in spite of appropriate caloric intake. Cutaneous manifestations include xerosis, with abnormally dry skin that has a flaking enamel paint aspect, a typical red to gray-white hair color, the "flag sign" and more evident edema in lower limbs and face, giving it a full moon appearance. This article reports a case of a male adult patient who had undergone Whipple surgery for treatment of chronic pancreatitis associated with pseudotumor of the pancreatic head that progressed to cutaneous manifestations of kwashiorkor after pulmonary tuberculosis.