Hipomelanosis macular progresiva: respuesta al tratamiento con minociclina / Progressive macular hypomelanosis: response to treatment with minocycline

La hipomelanosis macular progresiva (HMP) es una dermatosis caracterizada por máculas hipopigmentadas, que se observa con mayor frecuencia en las mujeres y en los fototipos III y IV. Se ha asociado a Cutibacterium acnes (C. acnes) de tipo III como factor etiológico. Se presenta el caso de una paciente de 30 años, con máculas hipopigmentadas redondeadas en el tronco y la raíz de los miembros inferiores, de 10 años de evolución. El estudio histológico informó disminución del número de melanocitos y de pigmento melánico en la capa basal e infiltrado inflamatorio mononuclear perivascular superficial. Se indicó minociclina 100 mg/día por vía oral durante 8 meses, tras lo cual se observó la resolución total de las lesiones.

Progressive macular hypomelanosis (PMH) is a dermatosis characterized by hypopigmented macules, most frequently found in females and in phototypes III and IV. Cutibacterium acnes (C. acnes) type III has been associated as an etiological factor. We present the case of a thirty-year-old female patient with a 10-year history of nummular hypopigmented macules located on the top of the lower limbs and on the trunk. The histological study reported a decrease in the number of melanocytes and melanotic pigment in the basal layer and the presence of superficial perivascular mononuclear inflammatory infiltrate. After an 8-month regimen of oral minocycline 100 mg/day, there was a complete resolution of the lesions.

Palmoplantar depigmentation in Macaca fascicularis following Blaschko linear pattern.

Hypomelanosis of Ito is a rare neurocutaneous syndrome, characterized by streaks and swirls of hypopigmentation arranged in a Blaschkoid pattern. Other associated anomalies are observed. We report a case of a male cynomolgus monkey (Macaca fascicularis) who presented the characteristic of hypomelanosis of Ito with palmoplantar involvement and polythelia.

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)

Patrón cutáneo pigmentario de disposición lineal en un niño, vitíligo segmentario vs. hipomelanosis de Ito / Linear disposition pigmentary skin pattern in a child, segmental vitiligo vs. Hypomelanosis of Ito

Introducción: algunas enfermedades dermatológicas siguen disposición con patrones lineales. Con hipopigmentación en la infancia se encuentran el vitíligo segmentario, que sigue los dermatomas, aunque puede seguir las líneas de Blaschko y la hipomelanosis de Ito, que a su vez sigue las líneas de Blaschko. Estas dermatosis son infrecuentes en la práctica dermatólogica. Objetivo: profundizar en los elementos diagnósticos que permiten diferenciar dos dermatosis clínicamente caracterizadas por hipopigmentación segmentaria lineal de tipo blaschkoide y el tratamiento. Presentación del caso: a la consulta de Genodermatosis en Las Tunas acude un niño con máculas acrómicas en hemicuerpo izquierdo, sin otras alteraciones. Después de ser evaluado por varias especialidades (Dermatología, Genética, Pediatría, Oftalmología y Neurología), se determina que solo presentaba afectación cutánea, se le realizó biopsia de piel, que corroboró el diagnóstico de vitíligo segmentario. Conclusiones: se presenta el caso porque el vitíligo segmentario es infrecuente, sigue un patrón lineal que puede ser diferenciado de otra dermatosis infrecuente, como la hipomelanosis de Ito, y en el tratamiento es importante brindar apoyo psicológico al paciente para favorecer la obtención de mejores resultados con la Melagenina Plus(AU)

Introduction: some dermatological diseases are still available with linear patterns. In childhood with hypopigmentation can be found segmental vitiligo (which follows the dermatomes although it can follow the lines of Blaschko), and Hypomelanosis of Ito (which in turn follows the lines of Blaschko). These dermatoses are infrequent in dermatological practice. Objective: to deepen into the diagnostic elements that allows the differentiation of two dermatoses clinically characterized by linear segmental hypopigmentation of blaschkoid type and treatment. Case presentation: a child attends to the consultation of Genodermatoses in Las Tunas presenting acromic macules in left half of the body, without other alterations. After being evaluated by several specialties (Dermatology, Genetics, Pediatrics, Ophthalmology and Neurology), it was determined that only skin affectation was present. A skin biopsy was performed, which corroborated the diagnosis of segmental vitiligo. Conclusions: The case is presented because segmental vitiligo is infrequent, it follows a linear pattern that can be differentiated from another uncommon dermatosis, such as Hypomelanosis of Ito, and in the treatment it is important to provide psychological support to the patient to favor obtaining better results with Melagenina Plus(AU)

Manejo estomatológico pediátrico de la hipomelanosis de ito. reporte de un caso / Dental management hypomelanosis of ito. case report

La hipomelanosis de Ito (incontinencia pigmentante acromática o nevo sistmico acrómico) es una enfermedad dermatolgica o sindrome neurocutáneo de ocurrencia rara, que consiste en la presencia de manchas dérmicas hipopigmentadas en varias partes del cuerpo, además de múltiples manifestaciones extracutáneas, principalmente del sistema nerviosocentral (posible retraso mental de diferentes grados), musculo-esqueléticas y oculares. También ha sido asociada con diversas anomalías dentales, como son la hipodoncia y el talón cuspídeo palatino. El propósito del presente artículo es reportar el manejo estomatológico proporcionado a una niña de 2 años y 7 meses de edad con hipomelanosis de Ito, en la clínica del Posgrado en Estomatolog¡a Pediátrica, de la Universidad Autónoma de San Luis Potosi.

Hypomelanosis of Ito (incontinence pigmenting achromic or systemic achromic nevus) is a dermatological disease or neurocutaneous syndrome rare occurrence, with incidence of dermal hypopigmented spots in many parts of the body, and several extracutaneous manifestations, primarily central nervous system (possible mental retardation of variable degrees), optical and musculoskeletal. It has also been associated with various dental anomalies such as hypodontia and the palatal cusp heel. The purpose of this paper is to report dental management provided a girl of 2 years and 7 months old with Hypomelanosis of Ito, at the clinic of Pediatric Dentistry of the Autonomous University of San Luis Potosi.

Hipomelanosis de ito en paciente de 15 meses / Hypomelanosis of Ito in a patient 15 months

La Hipomelanosis de Ito (HI) es un trastorno neurocutáneo poco prevalente en Chile y el mundo, caracterizado por lesiones hipopigmentadas que siguen las líneas de Blaschko y que se asocian principalmente a alteraciones del sistema nervioso central y/o musculoesqueléticas. Se origina como expresión de un mosaicismo inespecífico de las células pigmentarias, durante la embriogénesis. Se presenta el caso de un paciente masculino de 15 meses con lesiones hipopigmentadas características, retraso del desarrollo psicomotor, crisis convulsivas tónico ­ clónicas, microcefalia, hipotonía central severa e hipoacusia bilateral, retraso en el desarrollo dental y dismorfias faciales. Se realizó estudio, resultando sin alteraciones metabólicas, excepto por aumento progresivo de TSH (11,3 mUI/L), por lo cual se inicia tratamiento con levotiroxina. Con los hallazgos clínicos y resultados de laboratorio descritos se planteó diagnóstico de mosaicismo pigmentario, continuando estudio de forma ambulatoria. En cuanto al diagnóstico, se recomienda la utilización de los criterios de Ruiz-Maldonado que consideran la presencia de lesiones cutáneas asociado a un criterio mayor o dos menores para determinar el diagnóstico definitivo (Ver Tabla 1). La patología más importante a descartar, es la Incontinencia Pigmentaria, que se caracteriza por estar ligado exclusivamente al cromosoma X y evolución por etapas de las lesiones cutáneas en las líneas de Blaschko. En la actualidad la HI solo tiene tratamiento sintomático por cual es importante hacer un diagnóstico precoz para sobrellevar la patología adecuadamente.

Hypomelanosis of Ito (HI) is a rarely prevalent neurocutaneous disorder in Chile and the world, that is characterized by hypopigmented lesions following Blasko lines that are primarily asociated with Central Nervous Sistem and or musculoskeletal disorders. It origins as an expression of an inespecific mosaicisism of the pigmented cells during embriogénesis. We present a case of a 15 months pediatric male patient with characteristic hypopigmented lesions, delayed psychomotor development, tonic-clonic seizures, microcephaly, central hypotonia and bilateral hypoacusia, delayed dental development and facial dysmorphia. He was hospitalized for further studies resulting without metabolic disorders except for progressive enhancement of TSH (11,3 mUI/L), and thyroxine supplement was initiated. With the described clinical and laboratory findings we proposed the diagnosis of Pigmentary Mosaicism and continued ambulatory treatment. Regarding the diagnosis, given the low prevalence of this disease we recommend the use of Ruiz ­ Maldonado criteria wich considers the precense of cutaneous lesions associated with one mayor or two minor criteria for the definitive diagnosis previously discarding the more frecuent diseases. Speaking about the differential diagnosis the most important disease is Pigmentary Incontinence, characterized by its exclusive presentation in female patients and the phasic evolution of the cutaneous lesions in Blasko lines. Nowadays the IH has only sintomatic treatment wich is why its important to make an early diagnosis in order to endure adequately the disease.

Hipomelanosis de Ito. Presentación de un caso / Hypomelanosis of Ito. A case report

La hipomelanosis de ito, es un síndrome neurocutáneo con un grado de despigmentación dérmica variable y alteraciones del neurodesarrollo. Se realiza el examen físico-genético a un niño de dos años de edad, observando manchas hipocrómicas, así como otras dismorfias en la cara y el cráneo que se asocian con esta enfermedad, cuyo riesgo de recurrencia es bajo. Después de revisada la literatura médica se confirmó el diagnóstico de la afección para ofrecer adecuado asesoramiento genético a familias con personas afectadas.

Hypomelanosis of Ito is a Neurocutaneous Syndrome with a variable degree of dermal depigmentation and neurological disorders. A physical-genetic examination was performed to a two-year old boy presenting hypochromic stains, dysmorphias in face and skull associated with this condition which recurrence risk is low. After revising the medical literature the diagnosis was confirmed to offer the necessary genetic advice to families with patients suffering from this syndrome.

A quantitative analysis of Propionibacterium acnes in lesional and non-lesional skin of patients with progressive macular hypomelanosis by real-time polymerase chain reaction.

Little is known about the etiology of progressive macular hypomelanosis, although it has been suggested that Propionibacterium acnes plays an important role. While microbiological culture is commonly employed to identify Propionibacterium acnes, new identification methods have been under investigation, amongst them polymerase chain reaction. To determine the cut-off point for the number of genome copies of Propionibacterium acnes in the lesional skin of patients with progressive macular hypomelanosis as a positive marker, employing quantitative real-time polymerase chain reaction and anaerobic culture, considered gold standard. An observational study with a comparison group, included 35 patients with dermatosis, attended at the Oswaldo Cruz University Hospital, Pernambuco, Brazil, between March and May 2008. Lesional skin was compared to non-lesional skin through positive testing with real-time polymerase chain reaction and culture. The Statistical Package for Social Sciences, version 12.0, was employed for the association analysis with the McNemar test, and the cut-off point with the ROC curve for maximum values. Propionibacterium acnes was most frequently encountered in lesional areas (p<0,025). The cut-off point of Propionibacterium acnes in lesional skin was 1,333 genome copies, with a sensitivity of 87,9% and a specificity of 100,0%. Since Propionibacterium acnes is a saprophyte, identifying the cut-off point may assist in determining its positivity in lesional skin in patients suffering with this dermatosis.

Alargamento unilateral dos espaços perivasculares observados à ressonância magnética em um caso de hipomelanose de Ito: qual o valor deste achado? / The unilateral enlargement of the perivascular spaces on magnetic resonance imaging in a case of hypomelanosis of Ito: which the value of this finding?

Hipomelanose de Ito é uma síndrome neurocutânea rara, ligada ao cromossomo X, de caráter dominante, caracterizada por manchas hipopigmentadas seguindo as linhas de Blaschko, dispostasem espirais e estrias, que estão presentes ao nascimento ou surgem nos primeiros meses de vida.O envolvimento cerebral é frequente e representado por retardo mental e convulsões. Anormalidadesmusculoesqueléticas, dentárias, cardíacas, gastrintestinais ou urinárias podem estar presentes.A avaliação por imagem é normal em até 25% dos casos, porém o alargamento dos espaçosperivasculares, dentre outras apresentações de imagem, pode estar presente. Assim sendo, o diagnóstico diferencial com patologias tumorais e não-tumorais deve ser estabelecido.

Hypomelanosis of Ito is a rare neurocutaneous syndrome, X-linked,dominant, characterized by hypopigmented lesions of skin alongthe Blaschko lines. Skin lesions usually are present at birth orappear early in life. The cerebral involvement is frequent and represented by mental retardation and seizures. Skeletal Muscleabnormalities, dental, cardiac, gastrointestinal or urinary may bepresent. The imaging evaluation is normal up to 25% of the casesbut the enlargement of perivascular spaces, among other imagespresentations, may be present, thus the differential diagnosis oftumor and non-tumor, should be established.

Estudo piloto para avaliar a eficácia da minociclina no tratamento da hipomelanose macular progressiva (HMp) / Pilot study to evaluate the efficacy of minocycline in the treatment of progressive macular hypomelanosis (PMH)

Introdução: A hipomelanose macular progressiva (HMP) se caracteriza por máculas hipopigmentadas no tórax, abdômen e região lombar. É frequentemente mal diagnosticada e tem etiologia desconhecida. Recentemente foi descoberta fl uorescência vermelha nas lesões, o que sugere a presença de porfi rina, produzida pelo Propionibacterium acnes. Objetivo: Avaliar a efi cácia da Minociclina 100mg/dia no tratamento da hipomelanose macular progressiva. Material e métodos: Foram incluídos pacientes maiores de 16 anos, com história mínima de três meses, sem alergias a derivados de tetraciclina e sem antibioticoterapia prévia por 90 dias. Foram realizadas fotografi as antes e após 30, 60, 90, 120 dias de tratamento. Resultados: Dos 19 pacientes incluídos, 11 completaram o estudo. Destes, em todos houve recuperação da cor nas áreas afetadas. O sucesso terapêutico pôde ser constatado em todos os pacientes incluídos no estudo, por um período mínimo de sete e um máximo de 11 meses após o fim do tratamento, dependendo do tempo de seguimento de cada paciente. Conclusão: Minociclina 100mg/dia por três meses foi efi caz isoladamente no tratamento da HMP, confi rmando o provável papel do P. acnes como agente etiológico da doença.

Introduction: Progressive Macular Hypomelanosis (PMH) is characterized by hypopigmented maculae on the thorax, abdomen, and lumbar region. It is often misdiagnosed, and its etiology is unknown. Recently, lesions suggestive of porphyria, produced by Propionibacterium acnes, were discovered by red fl uorescence of the lesions. Objective: To evaluate the effi cacy of Minocycline, 100 mg/day, in the treatment of Progressive Macular Hypomelanosis. Material and methods: Patients older than 16 years with at least a three-month history, without allergies to tetracycline derivatives, and without a history of treatment with antibiotics for 90 days before the study, were included. Pictures were taken before beginning treatment and after 30, 60, 90, and 120 days and after this whenever possible. Results: Out of 19 patients, 11 completed the study. All of them showed recovery of the color in the affected areas. Treatment success could be demonstrated for a minimum of seven months and a maximum of 11 months after treatment. Conclusion: The isolated use of minocycline, 100mg/day for three months, was effective in the treatment of PMH, confi rming the probable role of P. acnes as the etiological agent.

Imuno-histoquímica para o diagnóstico precoce de vitiligo / Immunohistochemistry for early diagnosis of vitiligo

O vitiligo é uma doença de pele freqüente que acomete 1% da população e é caracterizada por máculas despigmentadas conseqüentes à perda progressiva e localizada dos melanócitos da epiderme. Na maioria dos pacientes, o diagnóstico é feito por exame clínico. A biópsia da pele é realizada quando há necessidade de diagnóstico diferencial com doenças hipocromiantes. O diagnóstico histopatológico de vitiligo é difícil nos preparados corados por hematoxilina e eosina (HE). Há poucos estudos sobre a melhoria da qualidade diagnóstica no vitiligo. OBJETIVO: Avaliar a utilidade dos marcadores imuno-histoquímicos proteína S-100, human melanoma black-45 (HMB-45) e Melan-A para o diagnóstico precoce em casos clinicamente suspeitos ou duvidosos de vitiligo. Material e métodos: Lâminas histológicas de biópsias de pele sã e lesada de 10 pacientes com suspeita clínica de vitiligo coradas pelos métodos de HE, proteína S-100, HMB-45 e Melan-A. Utilizou-se contracoloração com Giemsa como modificação técnica para diferenciar a melanina da imunomarcação. RESULTADOS: Seis casos, com manifestação clínica recente, apresentaram infiltrado linfocitário, do tipo dermatite de interface, na pele lesada na HE. As colorações por S-100, HMB-45 e Melan-A marcaram os melanócitos da camada basal da pele sã, e a proteína S-100 evidenciou as células de Langerhans. Na pele lesada, os melanócitos estavam ausentes ou diminuídos quando comparados com a pele normal. A proteína S-100 demonstrou maior número de células de Langerhans, o que é característico das lesões de vitiligo. CONCLUSÃO: A imuno-histoquímica pode ser utilizada como método auxiliar no diagnóstico dos casos duvidosos de vitiligo.

Vitiligo is a frequent skin disease that affects 1% of the population. It presents depigmented macules resulting from a gradual loss of melanocytes in the epidermis. In most cases, the diagnosis is made by clinical examination. Skin biopsies are performed when it is necessary to compare it with other hypomelanosis. Histopathological diagnosis of vitiligo is often difficult in hematoxylin-eosin (H&E) stained sections. There are a few studies on the improvement of diagnostic quality in vitiligo. OBJECTIVE: To evaluate the use of immunohistochemical markers, such as S-100 protein, human melanoma black-45 (HMB-45) and Melan-A, in the early diagnosis of clinically suspected or doubtful cases of vitiligo. Materials and methods: Histological sections of biopsies from healthy and affected skin areas from 10 patients clinically suspected of vitiligo. The samples were stained with H&E, S-100 protein, HMB-45 and Melan-A methods. Counterstaining with Giemsa was applied as a technical modification to differentiate melanin from immunolabelling. RESULTS: Six cases with recent clinical manifestation showed lymphocyte infiltrates, such as interface dermatitis, in the affected skin in the H&E staining technique. S-100 protein, HMB-45 and Melan-A staining marked the basal layer melanocytes of the healthy skin and S-100 protein antigen evidenced Langerhans cells. Melanocytes were absent or less frequent in affected skin areas in comparison with normal skin. S-100 protein showed a larger number of Langerhans cells, what is a common feature of vitiligo lesions. Conclusion: Immunohistochemistry may be used as an auxiliary technique for the diagnosis of suspected vitiligo cases.

Análise da escrita de uma criança com Hipomelanose de ITO / Análisis de la escritura de un niño con Hipomelanose de ITO / Analysis of writing of a child with ITO's Hypomelanosis

A hipomelanose de Ito caracteriza-se por manchas hipossegmentadas decorrentes de uma rara alteração na mielinização que pode ocasionar seqüelas neurológicas como déficit cognitivo, macrocelafia e epilepsia. O objetivo deste trabalho é analisar as características da linguagem escrita de um sujeito portador dessa alteração. Para tanto, nosso estudo se pauta em uma abordagem que toma a linguagem como atividade constitutiva. O resultado de nossas análises demonstrou que a aquisição da escrita do sujeito dessa pesquisa coincide com o processo previsível de desenvolvimento da linguagem, apesar dos déficits neurológicos que ele apresenta.

Ito's hypomelanosis is characterized by hyposegmental spots caused by a rare alteration in the melanization that may cause neurological sequences such as cognitive deficiency, macrocephaly and epilepsy. Current analysis bases itself on the approach that considers language as a constitutive activity. Results show that the acquisition of the written language of the subject in current research coincides with the predictable development of the language process in spite of its neurological deficiencies.

Ambicoloration and morphological aberration in the sole Achirus declivis (Pleuronectiformes: Achiridae) and two other cases of color abnormalities in achirid soles from southeastern Brazil

Three cases of color abnormalities and one of morphological aberration in flatfishes of the genus Achirus are described from the Piraquê-Açú River estuary, Espírito Santo, Brazil. One specimen of A. declivis has 75% of the blind side with coloration like that of the ocular side. Another specimen of the same species is strongly hypomelanistic. A third specimen has incomplete eye rotation and a hooked dorsal fin. An ambicolored A. lineatus is also described.

Três casos de anormalidades pigmentares e um caso de malformação morfológica são descritos em linguados do gênero Achirus do estuário do Rio Piraquê-Açú, Espírito Santo, Brasil. Um espécime de A. declivis tem 75 % do lado cego com coloração idêntica àquela do lado oculado. Um outro indivíduo desta mesma espécie tem hipomelanização acentuada. Um terceiro espécime tem rotação incompleta do olho e início da nadadeira dorsal em formato de gancho. Um espécime de A. lineatus ambicolorido é também descrito.

Ambicoloration and morphological aberration in the sole Achirus declivis (Pleuronectiformes: Achiridae) and two other cases of color abnormalities in achirid soles from southeastern Brazil

Three cases of color abnormalities and one of morphological aberration in flatfishes of the genus Achirus are described from the Piraquê-Açú River estuary, Espírito Santo, Brazil. One specimen of A. declivis has 75% of the blind side with coloration like that of the ocular side. Another specimen of the same species is strongly hypomelanistic. A third specimen has incomplete eye rotation and a hooked dorsal fin. An ambicolored A. lineatus is also described.

Três casos de anormalidades pigmentares e um caso de malformação morfológica são descritos em linguados do gênero Achirus do estuário do Rio Piraquê-Açú, Espírito Santo, Brasil. Um espécime de A. declivis tem 75 % do lado cego com coloração idêntica àquela do lado oculado. Um outro indivíduo desta mesma espécie tem hipomelanização acentuada. Um terceiro espécime tem rotação incompleta do olho e início da nadadeira dorsal em formato de gancho. Um espécime de A. lineatus ambicolorido é também descrito.