Incontinencia pigmenti. progresión clínica y diagnóstico de un caso / Incontinentia pigmenti. clinical progression and diagnosis of a case

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.

Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

HISTOPATHOLOGICAL CHANGES IN THE GILL OF FRESHWATER TELEOST HETEROPNEUSTES FOSSILIS (BLOCH) EXPOSED TO METANIL YELLOW

The chronic toxic effect of Metanil Yellow on the gills of freshwater teleost Heteropneustes fossilis (Bloch) was studied. The ?shes were exposed for 45 days treatment in 2g/L of Metanil Yellow. However, after 45 days treatment, marked pathological changes in the gills were found. Necrosis found in the primary gill lamellae. Shortened and clubbing ends of the secondary gill lamellae. Buldging tip of primary gill ?laments and distortion was occurred in the shape of secondary ?lament. Pycnotic nuclei, vacuolization and degenerative epithelial cells were found

Incontinencia pigmentaria. Presentación de un caso / Incontinentia pigmenti. A case report

RESUMEN La incontinencia pigmentaria, también conocida como síndrome de Bloch-Sulzberger, es una rara genodermatosis ligada al cromosoma X, localizado en el Xq28. Afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Es una enfermedad multisistémica, caracterizada por afectar de forma variable a los tejidos derivados del neuroectodermo, la piel, ojos, dientes y el sistema nervioso central. Las lesiones cutáneas son las más significativas desde el nacimiento, y la biopsia confirma el diagnóstico. Debido a la rareza de esta entidad, se presentó el caso de una lactante de un mes, con antecedente familiar de incontinencia pigmentaria, quien exhibía lesiones típicas en la piel desde la primera semana de vida, en diferentes fases, que siguen las líneas de Blaschko. Se constataron manifestaciones oculares y eosinofilia (AU).

ABSTRACT Pigmentary incontinence, also known as Bloch-Sulzberger syndrome, is a rare X chromosome-linked genodermatosis, located in Xq28. It affects the female sex and has different clinical manifestations in the same family. Ii is a multi-systemic disease characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin, the eyes, the teeth and the central nervous system. Skin lesions are the most significant ones since birth time, and skin biopsy confirms the diagnosis. Due to the rareness of this entity, we presented the case of a nursing female infant aged one month, with a family history of pigmentary incontinence, who presented typical lesions in the skin, since his first week of life, in different phases, following the lines of Blaschko. Ocular manifestations and eosinophilia were confirmed (AU).

Diagnóstico clínico de la incontinencia pigmentaria en dos neonatos con lesiones cutáneas vesículo-pustulosas / Clinical diagnosis of pigment incontinence in two neonates with vesicle-pustulous skin lesions

Introducción: La incontinencia pigmentaria es un trastorno neuroectodérmico sistémico que en el recién nacido se diagnostica por la presencia de lesiones cutáneas de tipo eritemato-vesiculosas o vesículo-pustulosas, con distribución según las líneas de Blaschko, asociadas a eosinofilia en muestra de sangre. Objetivo: Mostrar que es factible diagnosticar la incontinencia pigmentaria en el período neonatal, aún en casos esporádicos, mediante un adecuado ejercicio del método clínico. Presentación de los casos: Se trata de dos recién nacidas femeninas, nacidas a término, con peso adecuado para la edad gestacional y sin antecedentes pre- y perinatales de interés; la primera de las cuales se presenta al tercer día de nacida con lesiones en piel, de aspecto vesículo-pustuloso, que seguían el recorrido del nervio ciático poplíteo externo. El segundo caso se presenta al 11no día de nacida con lesiones de tipo vesículo-ampulosas, en región externa de los cuatro miembros, con mejoría a los 26 días de vida. En ambos casos se plantea el diagnóstico de incontinencia pigmentaria esporádica. Conclusiones: El diagnóstico de la incontinencia pigmentaria en el período neonatal constituye un reto, el cual es posible asumir si se lleva a cabo un adecuado uso del método clínico, con un minucioso diagnóstico diferencial. Para el diagnóstico, resulta útil establecer consenso a partir de un enfoque multidisciplinario(AU)

Introduction: Pigment incontinence is a systemic neuroectodermal disorder that in the newborn is diagnosed by the presence of skin lesions of erythematous-vesiculosus or vesicle-pustulous type, with distribution according to the Blaschko lines, associated with eosinophilia in the blood sample. Objective: Show that it is feasible to diagnose pigment incontinence in the neonatal period, even in sporadic cases, through proper performance of the clinical method. Presentation of cases: These are two female newborns, born full-term, with a suitable weight for gestational age and without a pre- and perinatal history of interest; the first case occurs on the third day of life, presenting skin lesions, vesicle-pustulous in appearance, which followed the path of the external popliteal sciatic nerve. The second case occurs on the 11th day of life with vesicle-ampulose lesions in the outer region of the four limbs, with improvement at 26 days of life. Diagnosis of sporadic pigment incontinence is stated in both cases. Conclusions: Diagnosing pigment incontinence in the neonatal period is a challenge, which can be assumed if proper use of the clinical method is carried out, with a thorough differential diagnosis(AU)

Research on 7.0 T Magnetic Resonance Based Electrical Properties Tomography Based on Bloch-Siegert Shift / 中国医疗器械杂志

Magnetic resonance based electrical properties tomography (MREPT) is a different method from proton density imaging, Bloch-Siegert shift (BSS) is used in this paper to reconstruct the radiofrequency (RF) field amplitude and calculate the distribution of the permittivity constant. The phase of the RF field is approximated by the phase component of the magnetization intensity, and the conductivity distribution is calculated. In the experiment, Bruker 7.0 T magnetic resonance device was used to image two water models and in vivo Balb/c mice to obtain the image of electrical characteristics. Experimental results show that the Bloch-siegert B1+ image is significantly more efficient than the double-angle B1+ image. The study can provide a reference for selecting appropriate B1 mapping technology for B1 field imaging of electrical characteristics organizations, and provide basic research support for promoting the practical application of magnetic resonance characteristics.

O espírito da utopia vive / The spirit of utopia lives

Escrito como homenagem por ocasião do centenário da 1ª edição de O espírito da utopia (1918) de Ernst Bloch (1885-1977), o texto relembra o conteúdo da obra e o significado da utopia na modernidade; e ao fazer referência à Tese 9 sobre a História, de Walter Benjamin(1892-1940), alude aos clamores que, em nossos dias, testemunham a sobrevivência do espírito utópico.(AU)

Written as an homage at the occasion of the centenary of the first edition of The spirit of utopia (1918) of Ernst Bloch (1885-1977), the text remember the content of the work and the significance of utopia in the modern age; and by making reference to the Thesis 9 on History, of Walter Benjamin (1892-1940), alludes to the claims that, in our days, testify the survival ot the utopic spirit.(AU)

Sobre a história viva do Instituto de Medicina Social / On the living history of the Institute of Social Medicine

Fruto de uma pesquisa de corpo no Instituto de Medicina Social, esta tese trata de uma performance analítica sobre a trajetória daquela instituição. Está expressada nela o cotidiano institucional, o passado e o futuro que o atravessam e que pude colecionar. Tem como "base empírica" a experiência de um corpo em contato com memórias e imagens performadas. Um corpo que teve acesso à história viva de uma comunidade afetiva. Sendo uma performance composta por diferentes performances, aposta na fusão de formas literárias como possibilidade de permitir o acesso a quem a lê àquele cotidiano institucional. Ao longo dela, estão registros produzidos por um corpo que é produto daquele espaço e tempo, daquele coletivo, e o produz. A tese tem duas aberturas e pode ter os capítulos lidos na ordem corrente das folhas ou no inverso. Para quem parte da abertura, que é a introdução, será apresentado ao Instituto através de uma visitante misteriosa, a mulher. Após a ambientação física e cotidiana, há um capítulo que é de ambientação à tese e às perspectivas ético-política-epistemológica-estéticas do corpo que a produz. A seguir, um capítulo sobre as imagens perseguidas nas cinco décadas de instituição, os sonhos diurnos que a construíram. A esse, segue o capítulo de integração desta performance analítica, que tem a ambivalência como elemento estruturante. Silvia Cusicanqui, nele, nos oferece categorias para ler o mundo de outra maneira. Sobre o mote da ambivalência, o capítulo seguinte trata do elemento pertencido que decide confrontar o elemento estranho ao Instituto; o corpo no qual se produz o confronto, tenta traduzi-lo na forma de uma auto entrevista. O último capítulo é de encerramento que pode ser abertura, para quem vier na ordem inversa dos capítulos. Aqueles que a lerem, encontrarão afetos, ambivalência, desejo, imagens, performances, espaço e tempo produzidos e produtores, corpos e coletivos em movimento. Encontrarão algo sobre a história viva do Instituto de Medicina Social

As a result of a body research conducted at the Institute of Social Medicine, this thesis delves into the analytical performance of the Institute's own trajectory. It encompasses the daily life of the Institute, its past and future, and whatever else that I was able to assemble. Its "empirical base" is the experience of a body in touch with memories and performed images. A body that had access to the living history of an affective community. Being the performance an ensemble of different performances, it gambles on the fusion of literary forms as a mean to enable the access to those who reads the Institution's daily life. Throughout this performance, there are records by a body that is the very product and also the producer of that space and time and the collectiveness as well. This thesis has two starting points: it can either be read following the natural flow of its chapters or in reverse. For those who wish to start from the opening, which is the introduction, will be presented to the Institute by a mysterious visitor, the woman. Following the backdrop of the physical and daily settings, there is a chapter that corresponds to the general ambiance of the thesis, contextualising the ethical-political-epistemological-aesthetic perspectives of the body that produces it. The following chapter is around the images that were persecuted during the five decades of the Institution and the daydream that constructed and keep on constructing it. This is followed by the subsequent chapter concerning the integration of this analytic performance, which has ambivalence as its core structural element. In this section, Silvia Cusicanqui presents categories to support reading the world in another way. Under the same ambivalent premise, the succeeding chapter deals with the very element that confronts the alien one to the Institute; the body in which the confrontation takes place tries to translate it into the form of a self-interview. The last chapter is of closure, but also of opening for those who began reading backwards from the last chapter. Those who read this research will find affections, ambivalence, desire, images, performances, space and time produced and producers, bodies and the collectiveness in motion. One will find something about the very living history of the Institute of Social Medicine

The dialectics of new fascism in Greece / A dialética do novo fascismo na Grécia

The success of historical fascism in the particular transitional period at the beginning of the 20th century was grounded in its contribution to the successive acceptance and application of the so-called Fordist model for the organization of labor (accompanied by the correspondent social conditions and relations). Historical fascism contributed thus, with its particular way, to establishing a new class compromise between the potentials related with the productive forces and the confinements emanating from the productive relations. This contribution constitutes the "creativity" of fascism. Such a historical perspective on social processes allows us not to fall into the trap of understanding fascism only as a (barbarian) "deception". Fascism cannot be a plain deception, because a "mere deceit" cannot mobilize people. Fascism takes over, adopts real and unfulfilled needs and hopes - which as such constitute resistance to the capitalist arrogance and logic of commodification of everything - and offers its own (fascist, barbarian) solution or fulfillment. Consequently, our responsibility cannot lie in rejecting these needs and hopes (which are basically needs and hopes for security) because of their distorted or "pervert" articulations. Our responsibility lies in the careful peeling of these hopes/demands from their (fascist) enwrapment. Nationalism (from the subalterns!) does not constitute a mere irrational leftover from the past, but contains potentially mystic and romantic pre- or anti-capitalist elements and references. Nationalism obtains its dynamics and persuasion (for the subalterns!) from and for the contemporary societal processes, thus constituting an active, political and actual demand/position within the restructuring of society - which is in itself a moment in the restructuring of capitalism. Herein also the "rational kernel" of the anti-capitalist antithesis by the New Right is founded as counter position to the "neutral"...

O sucesso do fascismo histórico no período de transição, em particular no início do século 20, foi baseado em sua contribuição para a aceitação e aplicação sucessiva do chamado modelo fordista para a organização do trabalho (acompanhada das condições e relações sociais correspondentes). Fascismo histórico contribuiu assim, em sua forma particular, com a criação de um novo compromisso de classe entre os potenciais relacionados com as forças produtivas e as prisões que emanam das relações produtivas. Esta contribuição constitui a "criatividade" do fascismo. Tal perspectiva histórica sobre os processos sociais, não nos permite cair na armadilha de se compreender o fascismo apenas como um (bárbaro) "engano". O fascismo não pode ser um engano simples, porque um "mero engano" não pode mobilizar as pessoas. Fascismo assume, adota necessidades e esperanças reais e não cumpridas - que, como tal, constituem resistência à arrogância capitalista e lógica da mercantilização de tudo -, e oferece a sua própria solução (fascista, bárbara) ou sua realização. Por conseguinte, a nossa responsabilidade não pode mentir em rejeitar essas necessidades e esperanças (que são, basicamente, precisas e esperar pela segurança) por causa de suas articulações distorcidas ou "pervertido". Nossa responsabilidade exige-nos cuidadosas esperanças e demandas de seu (fascista) envolvimento. Nacionalismo (a partir dos subalternos!) não constitui uma mera sobra irracional do passado, mas contém potencialmente elementos anticapitalistas e referencias pré-místicas e românticas. Nacionalismo obtém sua dinâmica e persuasão (para os subalternos!) de e para os processos sociais contemporâneos, constituindo, assim, uma demanda/posição ativa, política e real no âmbito da reestruturação da sociedade - que é em si mesmo um momento na reestruturação do capitalismo. Aqui também o "núcleo racional" da antítese anticapitalista pela Nova Direita é fundada como posição contrária à mercantilização...

Incontinência pigmentar: relato de dois casos / Incontinentia pigmenti: report of two cases

Introdução: Incontinência pigmentar é uma genodermatose incomum ligada ao X. É doença que afeta tecidos derivados do ectoderma e mesoderma com alterações sistêmicas múltiplas. As manifestações cutâneas são características da enfermidade e progridem de forma cronológica, assim como os achados histopatológicos. Objetivo: Essa é uma doença rara com manifestações cutâneas e extracutâneas, sendo as primeiras mais frequentes, cujo diagnóstico precoce e acompanhamento multidisciplinar são de suma importância. Descrição do caso: Relatamos dois casos de incontinência pigmentar em crianças do sexo feminino com manifestações clínicas diversas e diferentes critérios diagnósticos, de acordo com antecedentes familiares. Discussão: O acometimento cutâneo é uma característica marcante da incontinência pigmentar, o que torna a avaliação dermatológica o passo inicial na sua investigação. Cabe ao dermatologista se atentar para esse diagnóstico e encaminhar precocemente para avaliação multidisciplinar, a fim de minimizar possíveis complicações e promover qualidade de vida ao paciente.

A prova pela imagem / The proof by the image / A prueba por la imagen

A pergunta sobre a eficácia argumentativa das imagens (seja no campo do conhecimento ou no campo da ação) é respondida aqui com a noção de "prova" pela imagem, ou seja, a forma concreta como a imagem faz pensar e agir. Isso tudo é sublinhado por meio da obra de Bertolt Brecht, Walter Benjamin ou Ernst Bloch, analisando as montagens de imagens a partir das quais é possível um novo modo de pensar a história.

The question on the argumentative efficacy of images (whether in the field of knowledge or in the field of action) is hereby answered through the notion of "proof " by the image, in other words, the concrete way which the image leads to thinking and acting. All this is underlined through the work of Bertolt Brecht, Walter Benjamin or Ernst Bloch, through the analysis of montages of images, from which a new way of thinking history is possible.

La pregunta sobre la eficacia argumentativa de las imágenes (ya sea en el campo del conocimiento o en el campo de acción) es respondida aquí con la noción de "prueba" por la imagen, es decir, la forma concreta en que la imagen hace pensar y actuar. Todo esto es subrayado mediante la obra de Bertolt Brecht, Walter Benjamin o Ernst Bloch, analizando los montajes de imágenes a partir de los cuales es posible un nuevo modo de pensar sobre la historia.

Incontinencia pigmenti: a propósito de dos casos / Incontinentia pigmenti: report of two cases

La Incontinencia Pigmenti (IP) o síndrome de Bloch Sulzberger es un trastorno multisistémico neuroectodérmico, que afecta predominantemente al género femenino, cuya manifestación inicial incluye lesiones cutáneas que evolucionan por brotes. En ocasiones, se asocia a compromiso oftalmológico, neurológico y dentales parte del diagnóstico diferencial de lesiones ampollares en un neonato. Se presentan dos casos de IP diagnosticados en etapas cutáneas distintas, uno de ellos con compromiso neurológico.

Incontinentia Pigmenti (IP) or Bloch Sulzberger syndrome is a neuroectodermal multisystemic disorder, that predominantly affects women, whose initial manifestation includes skin lesions that evolve by outbreaks. Sometimes, is associated with ophthalmological, neurological and dental commitment. It is part of the differential diagnosis of bullous lesions in a newborn. We present 2 cases of IP diagnosed in different skin stages and one of them with neurological involvement.

Simulations of Perfusion Signals of Pulsed Arterial Spin Labeling MRI

PURPOSE: A pulsed arterial spin labeling (PASL) signal usually depends on several parameters. The objective of this study was to determine the optimal parameters using simulation for perfusion signals of PASL magnetic resonance imaging (MRI). MATERIALS AND METHODS: Perfusion signals, DeltaM/M(0b), derived from the Bloch equation were evaluated in regard to the four most important parameters in PASL MRI: the tissue-to-blood coefficient (lambda), the longitudinal relaxation time of blood (T(1b)), the arterial transit delay from the application of tag (deltat), and the magnetic field strength (B0). The simulation was conducted with Mathematica software. RESULTS: First, perfusion signals differed depending on the value of lambda in brain tissue. The maximum signal, DeltaM/M(0b) = 0.390, was obtained at an inversion time (TI) = 1.53 sec for gray matter on 3T MRI. Second, perfusion signals were reduced with increasing deltat. The maximum signal, DeltaM/M0b = 0.526, was obtained at TI = 2.1 sec for deltat = 0.5 sec. Finally, perfusion signals increased with increasing B0. The maximum signal, DeltaM = 1.15, was obtained at TI = 1.52 sec for 3T MRI. CONCLUSION: We reported that the optimized TI values were obtained to provide the highest PASL signals. It is very important that optimized TI values be used to obtain high-quality perfusion signals using PASL MRI.

Manifestações clínicas e desafios diagnósticos na Síndrome de incontinentia pigmenti / Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti Syndrome

A Síndrome de Incontinentia Pigmenti (Síndrome de Bloch-Sulzberger) é uma doença rara, ligada ao cromossomo X e envolve tecidos ectodérmicos de múltiplos órgãos. As manifestações oculares surgem ao nascimento ou após algumas semanas. O objetivo desse trabalho é relatar as características oftalmológicas, dermatológicas e os achados radiológicos de uma paciente com a Síndrome de Incontinentia Pigmenti. Trata-se de uma paciente do sexo feminino, 26 anos que procurou o serviço de Oftalmologia da Faculdade de Medicina do ABC com queixa de baixa de visão em ambos os olhos há 1 ano. Apresentava alterações retinianas importantes e lesões cutâneas e dentárias sugestivas de síndrome de Incontinentia Pigmenti, confirmada por biópsia de pele. Conclui-se que o diagnóstico precoce é essencial, pois as lesões retinianas podem levar a sequelas graves e cegueira.

Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare, X-linked dominant disorder that involves ectodermal tissues of multiple systems. Cutaneous manifestations appear at birth or within a few weeks after. We aimed to describe ophthalmological, dermatological and radio diagnostic findings of a patient with Incontinentia Pigmenti. A twenty-six year old girl was followed at ABC Medicine School for visual loss, retina and cutaneous lesions with the diagnosis of Incontinentia Pigmenti confirmed by a skin biopsy. She had delayed eruption of her teeth some of which were conical. To conclude early management of retinal changes in Incontinentia Pigmenti is essential because they may be serious leading to blindness.

Tempo livre e humanização: dúvidas e esperanças ante as novas possibilidades de lazer / Leisure and humanization: doubts and hopes in the face of new possibilities for leisure

Movido pela esperança despertada pela expansão do 'tempo livre' no modo de vida contemporâneo, este texto indaga o significado de humano e humanização, rememorando brevemente a história desses conceitos e referindo-se a fragmentos da filosofia da utopia de Ernst Bloch em O princípio esperança, onde o tempo livre de trabalho é visto sob um olhar crítico, mas também como oportunidade para o aperfeiçoamento humano.

Moved by the hope awaked by the expansion of 'free-time' in the contemporary way of life, this text questions about the meaning of human and humanization, remembering briefly the history of these concepts and referring to fragments of the philosophy of utopia of Ernst Bloch in The principle of hope, where the time free of work is seen under a critical light, but also as an opportunity for human improvement.

A Case of a Surviving Male Infant with Incontinentia Pigmenti

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.

Incontinentia Pigmenti in a Male Infant / 대한피부과학회지

Incontinentia pigmenti (IP) is an uncommon genodermatosis that occurs mostly in female infants, but is rarely found in male infants. Male patients with incontinentia pigmenti are usually more severely affected than their female counterparts. IP is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. Herein, we report a case of IP in a male infant who presented with a typical course of skin manifestation, dental defects, and recurrent partial seizures. However, he did not show any signs or symptoms for ocular or cardiovascular anomalies.

Incontinentia Pigmenti in a Mother and her Daughter

Incontinentia pigmenti (IP) is a rare multisystemic ectodermal disorder, which is characterized by vesicular, verrucous, and pigmented cutaneous lesions, and is frequently associated with various developmental defects of the eye, CNS, teeth, hair, and nail. It is regarded as an X-linked dominant genetic disorder. We recently experienced a case with IP, who presented with irregular, reticular, and slate-gray to brown colored pigmentation on the whole body at birth. Skin lesions were much improved by 6 month of age. The mother of this infant had the history of same cutaneous lesions in her neonatal period, suggesting that these lesions had familial tendency.

A case of incontinentia pigmenti

Down syndrome is the most common autosomal chromosomal abnormality characterized by mental and growth retardation, and by various typical features including prominent epicanthal fold, oblique palpebral fissure, flat nasal bridge, short and broad hand, wide toe interspace, etc. The overall incidence has been shown to be 1:800 deliveries, increasing with advancing maternal age. However, twin cases are extremely rare, and thus far only 500 cases were reported worldwide. We have recently observed 10-day-old male monozygotic twins with Down syndrome, born to a mother of 30 years of age with one normal child. Both have VSD confirmed by 2D-echocardiography, in addition to various typical features. Cytogenetic examination revealed that both have karyotypes of 47, XY, +21. This is the first report in Korea as the authors are aware of.

A case of incontinentia pigmenti

No abstract available.

A case of incontinentia pigmenti

No abstract available.