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La aplasia cutis congénita, también conocida como síndrome de Bart, ha sido asociada con todos los subtipos principales de epidermólisis bullosa. Esta enfermedad afecta a 1 por cada 10 000 recién nacidos vivos; solo se han descrito 500 casos en la literatura médica. Se caracteriza por afectar un miembro inferior con patrón en forma de S y presentar lesiones de epidermólisis bullosa en cualquier otra parte del cuerpo. Se presenta el caso de una neonata con las características clínicas mencionadas, hospitalizada en el Servicio de Neonatología del Hospital Pediátrico Universitario «José Luis Miranda». Este diagnóstico es principalmente clínico y se basa en la evidencia de áreas de pérdida cutánea con predominio en miembros inferiores, lesiones ampollares en piel y mucosas, y deformidades ungueales. Su pronóstico puede ser fatal. Este caso reviste gran interés por su baja incidencia; su diagnóstico precoz contribuyó a evitar complicaciones.

Aplasia cutis congenita, also known as Bart's syndrome, has been associated with all the major epidermolysis bullosa subtypes. This disease affects 1 in 10, 000 live births; only 500 cases have been described in medical literature. It is characterized by affecting a lower limb with an S-shaped pattern and presenting epidermolysis bullosa lesions in any other part of the body. We present a female neonate with the aforementioned clinical features, who was hospitalized in the Neonatology service at "José Luis Miranda" Pediatric University Hospital. This diagnosis is mainly clinical and is based on evidence of areas of skin loss predominantly on the lower limbs, bullous lesions on the skin and mucous membranes and nail deformities. Its prognosis can be fatal. This case is of great interest due to its low incidence; its early diagnosis helped to avoid complications.

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Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a "milder" phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.

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Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype-phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and/or amino acid substitutions located in the extracellular domain of integrin α6ß4 genes. In DEB with CAS, missense variants occurring close to non-collagenous interruptions of the triple-helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon.

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BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, covered with a membranous or glistening surface, and appears as a flat scar. There are less than 20 cases reported in the literature. It has been proposed an abortive form of a defective closure of the neural tube. On the other hand, the trisomy 18 is a chromosomal abnormality characterized by a broad clinical spectrum and the presence of defective closure of the neural tube. CASE PRESENTATION: We report on an 18-months-old Venezuelan boy, who presented on the parietal scalp a distinctive localized MACC appearing as an oval lesion covered with a membranous surface, characterized by the absence of hairs and the presence of a sharp hair collar. The karyotype in peripheral blood was 47,XY,+ 18. CONCLUSIONS: This is the second case report of ACC in trisomy 18 and reinforces the interpretation of a non-fortuitous association as well as of a defective closure of the neural tube as pathogenetic mechanism. The case highlights the importance of examining for dermatological alterations such as ACC in cases of chromosomopathy.

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La Aplasia Cutis Congénita es una afección in-frecuente caracterizada por la ausencia de piel al nacer. Su localización más frecuente es en vértex, siendo rara en miembros inferiores como es el caso de nuestra paciente. La misma puede presentarse de forma aislada o asociada a otras anomalías o alteraciones genéticas. Analizamos el caso de una paciente de sexo femenino, con antecedente de consumo de marihuana materno durante la gestación, que presenta una aplasia cutis congénita extensa de miembro inferior derecho con acorta-miento del mismo a expensas de partes blandas, sin otras anomalías asociadas a la que se le realizó tratamiento tópico con gel antiséptico y apósitos glicerinados estériles con buena evolución y sin complicaciones.

Aplasia Cutis Congenita is an infrequent condi-tion characterized by the absence of skin at birth. The most frequent location is the scalp, being rare in lower limbs as is the case of our patient. It can be an isolated condition or be associated with other anomalies or genetic disorders. We analyzed the case of a female patient, with a history maternal use of marijuana during pregnancy, who presented a congenital extensive aplasia cutis of the right lower limb, with shortening at the expense of soft parts, without other abnormalities associated, who received topical treatment with antiseptic gel and sterile glycerinated dressings with good evolution and without complications.

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Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

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El síndrome de Bart es un trastorno congénito poco frecuente, caracterizado por la asociación de epidermólisis ampollosa, ausencia congénita localizada de piel y ocasionalmente anormalidades ungueales. En este artículo se reporta el caso de un neonato masculino, remitido al Hospital para el Niño del IMIEM (Instituto Materno-Infantil del Estado de México), para valoración de lesiones ampollosas extensas y ausencia de piel en miembros inferiores, presentes desde el nacimiento quien después del tratamiento, mostró mejoría con una evolución clínica favorable.

Bart syndrome is a rare congenital disorder characterized by the association of epidermolysis bullosa, localized congenital absence of skin and occasionally nail abnormalities. In this presentation we report the case of a male neonate referred to the Hospital para el Niño of IMIEM for evaluation of extensive blistering lesions and absence of skin in lower limbs, present from birth and who after treatment showed improvement, with a favorable clinical evolution.

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Aplasia cútis congênita (ACC) é uma doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e se apresenta ao nascimento como uma ferida que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Apresentamos dois casos de recém-nascidos com aplasia cútis congênita no couro cabeludo que foram tratados no Centro de Atendimento Integral ao Fissurado Lábio Palatal de Curitiba- Paraná. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente. O propósito do presente trabalho é realizar uma revisão da literatura sobre os aspectos epidemiológicos, diagnóstico e formas de tratamento da ACC de couro cabeludo.

Aplasia cutis congenital (ACC) is a rare disease characterized by the absence of skin formation. Usually occurs on the scalp, in the midline, and presents at birth as a wound that can reach different depths and can involve the periosteum, skull and dura. We present two cases of newborns with congenital cutis aplasia on the scalp that were treated at the Center for Integral Assistance of Cleft Lip and Palate Curitiba-Paraná. Due to the rarity of ACC and the small number of patients in published series in the literature, standardization of treatment is still a challenge. The purpose of this paper is to review the literature on the epidemiology, diagnosis and treatment modalities of ACC of the scalp.

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Aplasia cutis congenita (ACC) is a rare disease characterized by congenital absence of skin, affecting preferentially the scalp. Diagnosis is made clinically; however, recent studies have shown that dermoscopy can be a useful tool for the diagnosis and differentiation from sebaceous nevus. The clinical findings include a shiny atrophic alopecic patch associated with dermoscopic findings of absent follicular openings, thicker vessels and a distinct collar hypertrichosis. We report 2 cases of alopecia presenting from birth. At dermoscopy, the absence of follicular openings and the increase in the caliber of vessels led us to establish the diagnosis of ACC.

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INTRODUCTION: Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. CASE REPORT: Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum. It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up. DISCUSSION: ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow.

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La aplasia cutis congénita es una patología poco común y localizada, que se caracteriza por la ausencia total o parcial de las capas cutáneas y en la mayoría de los casos se cura espontáneamente. Presentamos el caso de un recién nacido a término, de sexo masculino que al momento de nacimiento presenta una lesión erosiva que abarca rodilla, pierna, tobillo y dorso de pie izquierdos. La superficie de la lesión es roja, brillante y está cubierta por una fina membrana traslúcida, que permite la visualización de estructuras vasculares. Por los antecedentes y la clínica se llega al diagnóstico de aplasia cutis congénita. Se decide realizar tratamiento utilizando apósitos oclusivos con Quitosano (Biopiel ®). A la semana de iniciadas las curaciones, es evidente el avance de la cicatrización, la cual alcanza a ser completa al mes y medio de vida. Actualmente el paciente tiene 6 años de vida y no presenta nuevas lesiones, solo muestra secuelas pigmentarias con tendencia a la resolución. La aplasia cutis congénita suele presentarse sola o como parte de un grupo heterogéneo de síndromes. Su incidencia es de 1 a 3 por 10.000 nacimientos. La mayoría de los casos son esporádicos y la etiología aun es desconocida. El 85% de los casos se presentan en el cuero cabelludo, a nivel del vértex, sin embargo, se puede localizar en tronco o extremidades. El diagnóstico de aplasia cutis congénita es fundamentalmente clínico, ya que la histopatología es poco específica. El tratamiento en la mayoría de los casos es conservador. La importancia de presentar este caso clínico es para destacar que un correcto diagnóstico de Aplasia cutis congénita, permite realizar un tratamiento conservador, que en este caso tuvo un resultado muy favorable, tanto en la funcionalidad como en la apariencia estética del miembro afectado, evitando someter al neonato a riesgos mayores.

Aplasia Cutis Congénita is an uncommon and localized disorder, whose main future is the partial o complete absence of the cutaneous layer and on most cases heals spontaneously. We report a case of a male newborn, that presents at birth an erosive lesion that involves left knee, leg, ankle an back of the left foot. The surface of the erosive lesion is red, shiny and covered by a thin translucent membrane, which allows visualization of vascular structures. The clinical diagnosis was aplasia cutis congenita. Treatment with Chitosan ( Biopiel ®) oclusive dressings is started.The progress of the healing process is evident in the first week of treatment and is complete to month and a half of life. Currently the patient is 6 years old and he presents only hypopigmentation an hyperpigmentation but absence of new erosive injuries. Aplasia cutis congenita is an anomaly that can be present isolated or as a part of a syndromic condition. Most cases are sporadic and the etiology remains unknown. The incidenece is about 1:3 / 100.000. 85% of the cases are localizated on the scalp nevertheless ACC can be present on the trunk or extremities. The diagnosis of ACC is basically clinical, since the histopathological findings are non-especific. The management is mainly conservative. The purpose of presenting these case is for highlighting the importance to make a correct diagnosis for achive a favorable result both aesthetic and funcional through a conservative treatment.

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Epiteliogênese imperfecta se caracteriza por la formación epitelial incompleta debido al ectodermo germen y mesodermo durante el período embrionario. La enfermedad varía en gravedad, y se describe en la mayoría de las especies domésticas. En algunas especies, el resultado de mutaciones herdadas genéticamente, pero la herencia no ha sido probado en otros. En este trabajo, vamos a abordar un caso de epiteliogênese imperfecta en un cerdo macho con aproximadamente 21 días de edad, se reunió en Medicina y porcina Reproducción de la Universidad Federal de Santa Maria. De acuerdo a la información del propietario, el animal nació con una malformación de la piel en aproximadamente 40% de la superficie dorsal posterior. El tratamiento fue la base de un antiséptico para prevenir la proliferación de patógenos en las secreciones, aceite mineral para la hidratación de la piel, además de un epitelizante y la curación. Dado que esta condición es esporádica y afecta a algunos animales de una misma camada, los intentos de prevenir la enfermedad a través de animales de cría eliminación no es factible. Sin embargo, la descendencia con este tipo de trastorno de la piel, y sobreviven, no debe ser mantenido como criadores futuras.(AU)

Epitheliogenesis imperfecta is characterized by incomplete formation derived epithelial germ ectoderm and mesoderm failures during the embryonic period. The disease varies in severity and was described in most domestic species. In some species, the result of genetically inherited mutations, but heredity was not confirmed in others. In this work, we addressed a case of epitheliogenesis imperfecta in a male pig with approximately 21 days of age, served in Medicine and Reproduction of Swine, Federal University of Santa Maria. According to information from the owner, the animal was born with malformation of the skin in approximately 40% of the posterior dorsal region. The treatment was the basis of an antiseptic to prevent proliferation of pathogens in secretions, mineral oil for moisturizing the skin, plus an epitelizante and healing. Since this condition is sporadic and affects some animals within a litter, attempts to prevent the disease by eliminating the breeding of animals is not feasible. However, offspring with this type of skin disorder, and survive, should not be kept as future breeders.(AU)

A epiteliogênese imperfeita é caracterizada pela incompleta formação epitelial decorrente de falhas germinativas no ectoderma e mesoderma durante o período embrionário. A doença varia em gravidade e foi descrita na maior parte das espécies domésticas. Em algumas espécies, resulta de mutações geneticamente herdadas, mas a hereditariedade não foi comprovada em outras. Neste trabalho, é abordado um caso de epiteliogênese imperfeita em um suíno macho com aproximadamente 21 dias de idade, atendido na Medicina e Reprodução de Suínos da Universidade Federal de Santa Maria. De acordo com as informações do proprietário, o animal nasceu com malformação da pele em aproximadamente 40% da região dorsal posterior. O tratamento foi instituído a base de um antisséptico para evitar proliferação de patógenos nas secreções, óleo mineral para a hidratação da pele, além de um epitelizante e cicatrizante. Como esta condição é esporádica e afeta alguns animais dentro de uma ninhada, tentativas de prevenção da doença pela eliminação do plantel de animais se torna inviável. Contudo, a prole com este tipo de alteração cutânea, e que sobrevivem, não devem ser mantidos como futuros reprodutores.(AU)

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Epiteliogênese imperfecta se caracteriza por la formación epitelial incompleta debido al ectodermo germen y mesodermo durante el período embrionario. La enfermedad varía en gravedad, y se describe en la mayoría de las especies domésticas. En algunas especies, el resultado de mutaciones herdadas genéticamente, pero la herencia no ha sido probado en otros. En este trabajo, vamos a abordar un caso de epiteliogênese imperfecta en un cerdo macho con aproximadamente 21 días de edad, se reunió en Medicina y porcina Reproducción de la Universidad Federal de Santa Maria. De acuerdo a la información del propietario, el animal nació con una malformación de la piel en aproximadamente 40% de la superficie dorsal posterior. El tratamiento fue la base de un antiséptico para prevenir la proliferación de patógenos en las secreciones, aceite mineral para la hidratación de la piel, además de un epitelizante y la curación. Dado que esta condición es esporádica y afecta a algunos animales de una misma camada, los intentos de prevenir la enfermedad a través de animales de cría eliminación no es factible. Sin embargo, la descendencia con este tipo de trastorno de la piel, y sobreviven, no debe ser mantenido como criadores futuras.

Epitheliogenesis imperfecta is characterized by incomplete formation derived epithelial germ ectoderm and mesoderm failures during the embryonic period. The disease varies in severity and was described in most domestic species. In some species, the result of genetically inherited mutations, but heredity was not confirmed in others. In this work, we addressed a case of epitheliogenesis imperfecta in a male pig with approximately 21 days of age, served in Medicine and Reproduction of Swine, Federal University of Santa Maria. According to information from the owner, the animal was born with malformation of the skin in approximately 40% of the posterior dorsal region. The treatment was the basis of an antiseptic to prevent proliferation of pathogens in secretions, mineral oil for moisturizing the skin, plus an epitelizante and healing. Since this condition is sporadic and affects some animals within a litter, attempts to prevent the disease by eliminating the breeding of animals is not feasible. However, offspring with this type of skin disorder, and survive, should not be kept as future breeders.

A epiteliogênese imperfeita é caracterizada pela incompleta formação epitelial decorrente de falhas germinativas no ectoderma e mesoderma durante o período embrionário. A doença varia em gravidade e foi descrita na maior parte das espécies domésticas. Em algumas espécies, resulta de mutações geneticamente herdadas, mas a hereditariedade não foi comprovada em outras. Neste trabalho, é abordado um caso de epiteliogênese imperfeita em um suíno macho com aproximadamente 21 dias de idade, atendido na Medicina e Reprodução de Suínos da Universidade Federal de Santa Maria. De acordo com as informações do proprietário, o animal nasceu com malformação da pele em aproximadamente 40% da região dorsal posterior. O tratamento foi instituído a base de um antisséptico para evitar proliferação de patógenos nas secreções, óleo mineral para a hidratação da pele, além de um epitelizante e cicatrizante. Como esta condição é esporádica e afeta alguns animais dentro de uma ninhada, tentativas de prevenção da doença pela eliminação do plantel de animais se torna inviável. Contudo, a prole com este tipo de alteração cutânea, e que sobrevivem, não devem ser mantidos como futuros reprodutores.

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Aplasia cutis congenita of scalp (ACCS) is a rare developmental anomaly. It has presented in children who have many concomitant anomalies. Large, deep defects can complicate by repeat local and systemic sepsis and life-threatening hemorrhage. In this paper, we describe, to the best of our knowledge, the first case of a newborn boy with ACCS and myelomeningocele whose evolution with hydrocephalus has brought us a serious paradigm of using a shunt in the presence of tissue expanders. The treatment of hydrocephalus with third ventriculostomy associated with good aesthetic final result show an alternative to the use of shunt in this scenario, even in infants of young age. We review here therapeutic strategies and challenges with this disease.

A aplasia cútis congênita do couro cabeludo (ACC) é uma rara anomalia do desenvol- vimento. Tem sido observada em pacientes com outras deformidades associadas. Formas extensas e profundas podem evoluir com septicemia e hemorragia grave. Neste trabalho descrevemos um caso inédito de neonato do sexo masculino com ACC e espinha bífida na qual a evolução com hidrocefalia nos trouxe um dilema em usar shunt na presença de expansores teciduais. O tratamento com terceiroventriculostomia endoscópica associado a um bom resultado estético revela uma alternativa ao uso de derivações neste cenário, mesmo em lactentes. Revisamos aqui as opções terapêuticas e desafios encontrados nesta patologia.

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Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition.

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INTRODUÇÃO A Aplasia Congênita da Cútis (ACC) é uma doença rara caracterizada pela ausência de uma parte da pele ao nascimento, seja em área localizada ou generalizada. A incidência é de 0,1 a cada 100.000 nascimentos, tendo como acometimento principal o couro cabeludo, ocorrendo de forma isolada nesta localização em 60% dos casos. As causas não são claras, mas fatores genéticos, teratógenos (álcool, cocaína, maconha, heroína, misoprostol, metimazol, carbimazol, herpes simples congênito, varicela congênita, etc.), comprometimento da irrigação sanguínea para a pele, trauma, bandas amnióticas e desordens cromossômicas (trissomia do 13) estão associados com as lesões. RELATO DO CASO: Paciente do sexo feminino, nascida de parto vaginal com 36 semanas e três dias, e peso adequado para a idade gestacional. Referenciada ao nosso serviço após sete dias de nascimento, constando ausência total do tegumento cutâneo em ambas as pernas, com acometimento de aproximadamente 17% da superfície corpórea, segundo a tabela de queimados de Lund e Browder. A má formação consistia na ausência total de pele e tecido celular subcutâneo. Face a extensão e localização da lesão, optou-se pelo tratamento por enxerto de pele parcial, permitindo, dessa forma, preencher a totalidade do defeito. CONCLUSÃO: Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente e o que existe são recomendações. Ainda são necessários estudos que abordem desde a etiologia da doença até a avaliação dos métodos de tratamento.

INTRODUCTION Aplasia cutis congenita (ACC) is a rare disease characterized by the absence of a part of the skin at birth that may be either localized or widespread. The incidence of this disease is 0.1 per 100,000 births. It mainly involves the scalp alone in 60% of the cases. The causes are unclear; however, genetic factors, teratogens (alcohol, cocaine, marijuana, heroin, misoprostol, methimazole, carbimazole, congenital herpes simplex, congenital varicella, and others), impaired blood supply to the skin, trauma, and amniotic band and chromosomal disorders (trisomy 13) are associated with the wounds. CASE REPORT: A female patient was delivered vaginally at 36 weeks 3 days of gestation, with appropriate weight for the gestational age. She was referred to our service after 7 days of birth, presenting total absence of skin integument on both legs, with impairment of approximately 17% of the body surface according to the Lund and Browder chart. The malformation consisted of the total absence of skin and subcutaneous tissue. Given the extent and localization of the wound, treatment with a partial skin graft was elected, thereby filling the totality of the defect. CONCLUSION: Owing to the rarity of ACC and the small number of patients in the series published in the literature, standardization of treatment is still incipient. Currently, only recommendations are available. Further studies are needed in order to investigate the etiology of the disease and to evaluate treatment methods.

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El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.(AU)

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.(AU)

RESUMO

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.

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RESUMO

Presentamos un caso de infección por Herpes virus simplex adquirido por vía transplacentaria en un neonato nacido a las 34 semanas de gestación por parto vaginal. La madre presentó un único episodio de infección genital por herpes virus en la décima semana de gestación.En el momento del nacimiento el niño presentódos ampollas y lesiones de aplasia cutis que semejaba una epidermólisis bullosa. Además, se evidenciaron múltiples anomalías congénitas del sistema nervioso central, oftalmológicas y cardíacas que sustentan la infección herpética intrauterina. El test de Tzanck y la serología para Herpes virus simplex 2 (IgG) fueron positivas. La infección intrauterina por virus herpes está asociada a alta morbilidad y mortalidad pero responde a la terapia antiviral. Este diagnóstico debe ser considerado en todo neonato con una enfermedad ampollar o piel erosionada.

We present a case of Herpes simplex virus infection acquired by transplacental route in a neonate born at 34 weeks of gestation by vaginal delivery. The mother presented a single episode of genital herpes simplex virus infection in the tenth week of pregnancy. At birth, the neonate presented two blisters and lesions of aplasia cutis resembling epidermolysis bullosa. In addition, he presented multiple congenital anomalies of the brain, eyes and heart, supporting the intrauterine infection. Tzanck test and serology for Herpes simplex virus 2(IgG) were positive. Intrauterine infection by herpes virus is associated with high morbidity and mortality, however it responds to antiviral therapy. This diagnosis should be considered in any neonate with blisters or denuded skin.

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