Aplasia cutis congénita: a propósito de un caso / Aplasia cutis congenita: case report / Aplasia congênita da cútis: relato do caso

La aplasia cutis congénita es una patología rara caracterizada por la ausencia de desarrollo de piel. Aunque puede localizarse en diferentes áreas del cuerpo, mayormente afecta el cuero cabelludo y puede extenderse a tejidos subyacentes. Presentamos aquí un caso clínico que se destaca por la extensión de la lesión. Se incluye la descripción del tratamiento y seguimiento del paciente.

Aplasia Cutis Congenita is a rare pathology characterized by the absence of development of the epidermis, and even though it can compromise any area of the body, it usually affects the scalp and it can be extended to the underlying tissues. We present a particular case due to the lesion size. It includes treatment description and follow-up.

A Aplasia Congênita da Cútis é uma patologia rara caracterizada pela ausência de desenvolvimento das epidermes, e embora possa se localizar em diferentes áreas do corpo, acomete principalmente o couro cabeludo e pode se espalhar para os tecidos subjacentes. Apresentamos aqui um caso clínico que se destaca pela extensão da lesão. Incluímos a descrição do tratamento e acompanhamento do paciente.

Aplasia cutis congénita extensa de miembro inferior: presentación de un caso / Extensive aplasia cutis congenita of lower limb: case report

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.

First Case Report of an Infant with Aplasia Cutis Congenita of Scalp and Myelomeningocele / Primeiro relato de caso de aplasia cutis congenita e mielomeningocele

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.

Clouston Syndrome: 25-year follow-up of a patient

Abstract: Clouston syndrome is a rare genodermatosis that affects skin and annexes. It is a form of ectodermal dysplasia characterized by generalized hypotrichosis, palmoplantar hyperkeratosis and nail dystrophy. This paper reports a 25-year follow-up of a patient with Clouston syndrome, from childhood to adulthood, monitoring diagnosis and clinical course of the disease.

Tratamiento integral de un paciente niño con displasia ectodérmica: utilización de resinas compuestas y prótesis parcial removible. Reporte de caso / Comprehensive treatment for child with ectodermal dysplasia using composite resins and removable partial denture. Report of a case

La Displasia Ectodérmica (DE) es una enfermedad que afecta las estructuras de origen ectodérmico. Estadísticamente la DE afecta 7de cada 100.000 nacimientos en Estados Unidos, y 7 de cada 9 personas afectadas con esta enfermedad, son hombres. Las opciones para la rehabilitación pueden ser varias, siempre haciéndose énfasis en la búsqueda de mejoras funcionales, estéticas y aumento en la autoestima del paciente para así lograr el adecuado y esperado crecimiento y desarrollo. Se presenta un caso de displasia ectodérmica de una niña de 3 años de edad que concurre a la Clínica de Odontopediatría de la Facultad de Odontología de la Universidad Católicade la ciudad de Montevideo, Uruguay. Se realizó un plan de tratamiento acorde a las necesidades de la paciente: control de la infección caries y paradencial, medidas de refuerzo local y sistémico con flúor, y desde el punto de vista rehabilitador, estético, funcionaly psicológico se realizaron resinas compuestas (RC) y un juego de PPR a cromo-cobalto respetando los principios de crecimiento y desarrollo, con controles periódicos.

Ectodermal Dysplasia (ED) is a disease that affects ectodermal structures. Statistically ED affects 7 out of every 100,000 births in the United States, and 7 out of 9 people affected with this disease are men. Several options of rehabilitation are possible, always making emphasis on the search for functional and aesthetic improvements and increased self-esteem of the patient in order to achieve the properand expected growth and development. A case of ectodermal dysplasia in a 3 year old girl who attends the Clinic of Pediatric Dentistry, Faculty of Dentistry, Catholic University of Montevideo, Uruguay, is presented. A treatment plan tailored to the needs of the patient was performed: control of caries, paradencial disease, measures of local and systemic reinforcement with fluoride, in order to performthe rehabilitation, aesthetic, functional and psychological, composites resins (CR) and a set of chrome-cobalt Removable Prosthodontic partial (RPP) to respecting the principles of growth and development were made, with regular checks.

Aplasia cutis congénita: lo que se conoce en el presente / Aplasia cutis congenita

Se expone una revisión sobre aplasia cutis congénita (ACC), dermatosis poco frecuente, caracterizada por la ausencia de piel al nacer. Se describen su sinonimia, definición, rasgos epidemiológicos, etiología en sus diferentes teorías comola amniogénica, la vascular, fuerzas biomecánicas sobre el vértice de la piel cabelluda durante la embriogénesis, porfármacos teratógenos, por infecciones intrauterinas (virales), por factores genéticos, traumáticos, involución intraúterode hemangioma, y cierre frustro del tubo neural. La clínica es abordada a través de sus diferentes clasificacioneses bozadas en el tiempo, citando las más reportadas como la de Demmel, Sybert, Atherton y, culminando con el desarrollode la postulada por Frieden, en la que son incluidas las modificaciones que en el tiempo se han introducido en el grupo 1. Se continúa con el diagnóstico y diagnóstico diferencial y, sus estudios complementarios en fase prenatal y postnatal, paralo cual se bosqueja una hoja de recolección de datos para pacientes en quienes se sospecha de ACC. Seguido del manejo y tratamiento, complicaciones, pronóstico y, finalizando con la orientación para la educación al paciente.

We expose a review on aplasia cutis congenita (ACC), dermatosis little frequents, characterized by the absence of skin when beingborn. Their synonymy, definitions, characteristics epidemiologists, etiology in their different theories like the amniogenesis, the vascular one are described, biomechanic forces on the vertex ofthe hairy skin during the embryogenesis, by teratologic drugs,intrauterine infections (virals), by genetic, traumatic factors,involution intrauterus of hemangioma and closing frustrateof the neural tube. The clinics is boarded through its different classifications outlined in the time, mentioning the most reported like the one of Demmel, Sybert, Atherton and culminating with the development of the postulated one by Frieden, in which we included the modifications that in time have been introduced ingroup 1. We continued with diagnosis and diagnosis differentialand its complementary studies in prenatal and postnative phase,for which a leaf data collection for patients in those who issketched ACC suspicion. We followed with the handling and treatment, complications, prognosis and finalizing with the direction for education to the patient.

Displasia ectodérmica: relato de caso / Ectodermal dysplasia: case report

A displasia ectodérmica (DE) compreende um grupo grande e heterogêneo de doenças hereditáriasque se caracteriza por apresentar manifestações clínicas relacionadas às anomalias das estruturas de origemectodérmica, principalmente nos cabelos, unhas, dentes e pele. Este trabalho descreve o caso clínico de umpaciente do sexo masculino de 11 anos de idade, que compareceu à clínica odontológica de uma instituição deensino superior de Belo Horizonte MG. A criança apresentava-se com características da displasia ectodérmica,na forma hipoidrótica, e com história de diversos indivíduos afetados na família materna. Fez-se, ainda, revisãoda literatura e discussão da etiologia e tratamento para o caso descrito.

Síndrome de Adams-Oliver: descrição clínica e acompanhamento da evolução de um caso / Adams-Oliver syndrome: clinical description and follow-up of an evolution of a case

A síndrome de Adams-Oliver ou Aplasia Congênita da Cútis é rara e se caracteriza pela ausência de uma parte da pele ao nascimento em área localizada ou generalizada. Apresenta-se, mais comumente, como pequenas lesões no couro cabeludo que ao nascimento podem já ter tido resolução com cicatriz ou permanecer com erosão superficial até ulceração profunda, ocasionalmente envolvendo as meninges. Devido à raridade da síndrome de Adams-Oliver, relata-se o caso de uma criança que nasceu com 36 semanas de gestação com malformação do tipo ausência parcial da calota craniana, com ausência de pele e tecido subcutâneo, malformação congênita em membros superiores e membros inferiores. Após diagnóstico da síndrome, o paciente foi submetido à cirurgia plástica para correção da encefalocele e posterior tratamento da lesão cutânea na região parieto-occipital-temporal. Pela escassez de pele, a lesão não foi totalmente coberta e foi discutido aguardar evolução clínica para outras abordagens futuras. Com três meses de vida, evolui para óbito por insuficiência respiratória após ficar entubado com ventilação mecânica por sete dias.

Adams-Oliver syndrome or Aplasia Cutis Congenita (ACC) is a rare condition characterized by a congenital absence of a localized or generalized area of skin at birth. It most often occurs as small lesions in the scalp, which at birth could have already been healed, or it may remain a shallow ulcer until it becomes a deep ulceration, occasionally impairing the meninges. Due to Adams-Oliver syndrome singularity, we report a case of a child who was born with a gestational age of 36 weeks with a congenital malformation, such as partial absence of the skullcap, absence of skin and subcutaneous tissue, and the upper and lower limbs can also present malformation. After the syndrome diagnosis, the patient had undergone both plastic surgery to reconstruct the encephalocele and further treatment of the skin lesion in parietal-occipital-temporal regions. Because of the scarcity of skin, the lesion was not totally covered, and we have chosen to wait for the clinical outcome to perform further approaches. At the age of three months, the child died due to respiratory failure. She had been intubated with mechanical ventilation for 7 days.

Aplasia cutis congenita: a case report

Aplasia cutis congenital [ACC] is a congenital absence of skin most commonly affecting the scalp. No definite etiology is available but multiple causes such as intrauterine infection, fetal exposure to cocaine, heroin, alcohol or antithyroid drugs, vascular disruption, genetic causes, syndromes and teratogens have been suggested. We present an infant with symmetrical type of aplasia cutis on the trunk and proximal limbs. She was product of triple pregnancy with two fetuses papyraceous at 12th week of gestational age and at birth. She is treated by non surgical management despite remarkable extent of the lesion. ACC of the trunk is less common than of scalp. Lesion often is symmetric and seen after fetus papyraceous in multiple pregnancies

Hypodontia and microdontia associated with hereditary ectodermal dysplasia

Hypodontia and associated conditions like Hereditary Ectodermal Dysplasia [HED] and microdontia markedly influence on physical, functional and psychosocial maturation of the affected individuals. Thorough evaluation, proper counseling and careful treatment planning employing a multidisciplinary approach are keys to a successful, long-term management. This case report describes the prosthodontic management of a young man with hypodontia and microdontia

[Hypohidrotic ectodermal dysplasia: ten cases]

Ectodermal dysplasias are rare hereditary diseases characterised by congenital absence of ectodermally derived structures and classified according to four symptoms: trichodysplasia, hypodontia, onychodysplasia and hypohidrosis. The objective of our study is to precise the epidemioclinical characteristics, the diagnostic tools, the evolution and the treatments of this rare disease through a 10-case series of hypohidrotic ectodermal dysplasia [HED]. The present report is a retrospective study of all cases of an/hypohidrotic ectodermal dysplasia collected from 1977 to 2006. We have specified age, sex, parental consanguinity, similar familial cases, clinical and histological features, dental, oto-rhino-laryngologic, ophthalmologic and respiratory examinations. Ten cases of HED were collected [average age: 14 years, sex ratio 9/1]. The mean duration diagnostic period was of 14 years. Parental consanguinity was registered in 3 cases but only one patient had similar familial cases. All patients had facial dysmorphy, hypotrichosis and hypo/anodontia [respectively 8/10 and 2/10]. All patients had clinically and histologically documented hypoplastic [6/10] or aplastic sweat glands [4/10]. Extra-cutaneons manifestations were noted in 8 patients [recurrent rhinitis 6/10, recurrent pneomopathies 3/10, xerophtalmy 3/10]. Our series deals with 10 cases of HED, consisting in Chris-Siemens Taos-nine syndrome. It highlights the delayed diagnosis of Ibis disease [mean: 14 years] with a diagnosis made at an adult age in four patients. Our study confirm the X-linked heredity [9/10] with a possible autosomal transmission [one female-case]. HED is rarely life-threatening, but early diagnosis allows a better quality of life to patients and genetic counselling to parents. Our series illustrates the rarity of RED which is also probably due to its underestimation by clinicians

Displasia ectodérmica hipohidrótica: caso clínico y revisión de la literatura / Hypohydrotic ectodermal dysplasia: a clinical case and review of the literature

La displasia ectodérmica hipohidrótica (DEH) es un trastorno genético que se caracteriza por hipohidrosis, hipotricosis e hipodoncia. Comúnmente afecta a varones con una herencia recesiva ligada al X, aunque existen otras formas con herencia autosómica dominante y recesiva. Los pacientes afectados pueden presentar intolerancia al calor, fiebre, hipertermia grave e incluso muerte súbita. Objetivo: Presentan el caso clínico de un paciente portador de DEH, y actualizar el conocimiento de la etiología y medidas terapéuticas de esta patología. Caso clínico: Se reporta el caso de una niña de 7 años de edad, que presenta escaso vello, alteraciones dentarias, amastia y escasa sudoración, compatible con una DEH y una probable herencia autosómica recesiva. Se comenta su evolución y manejo clínico, junto a aspectos embriológicos, genéticos, diagnósticos y el consejo genético de esta enfermedad.

Extensa falha cutânea e craniana em paciente com aplasia cutis congenita / Large scalp and skull defect in patient with aplasia cutis congenita

Aplasia cutis congenita (ACC) é doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e apresenta-se ao nascimento como uma ferida ulcerada que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Descrevemos o caso de menina recem-nascida que apresentava fácies dismórfica com defeito no couro cabeludo que abrangia a quase totalidade da abóbada craniana e apresentava falha óssea desde a base dos ossos frontais até os occipitais e mastóides. A dura-máter estava em sua maior parte exposta, sem sinais de fissuras. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura a padronização do tratamento ainda é incipiente. O que existem são recomendações. Ainda são necessários estudos que abordem desde a etiologia da doença até a avaliação dos métodos de tratamento e evolução de grupos maiores de pacientes.

Alpasia cutis congenita

aplasia cutis congenita is an uncommon anomaly of the newborn. Over 500 cases have been reported in USA since it was described, but due to significant under reportation of this generally benign disorder precise frequency is unknown. Aplasia cutis congenia is considered a rare condition, occurring in about 1 per 3500 live births, there is no racial predilection as well as no sexual prediction. In Tripoli Libya we registered two cases one boy born in Alkhadra Hospital, and another girl born in Ibn Nafise hospital. Etiology, clinical manifestations, investigations, treatment, and prognosis, of these first reported cases in Libya is introduced in this case report

Próteses removíveis em crianças com displasia ectodérmica hipoidrótica (DEH) / Removable prosthodontic treatment for children with HED

A displasia ectodérmica hipoidrótica é uma desordem congênita transmitida como um caráter recessivo ligado ao cromossomo X; säo afetadas as estruturas e apêndices ectodérmicos como dentes, pêlos, unhas, pele a as glândulas sudoríparas. Neste artigo os autores relatam o caso clínico de um menino de 8 anos de idade com algumas manifestaçöes da síndrome e, surgerem próteses removíveis para tratamento bucal deste paciente

Oral rehabilitation of ectodermal dysplasia with removable prosthodontics: a case report

Ectodermal dysplasia is a rare, hereditary, congenital disease that affects the normal development of certain tissues and structures of ectodermal origin. The disease is manifested in different degrees of severity and may involve the nose, eyes, hair, nails, sweat glands and enamel of the teeth. This report presents the case of a 5-year-old patient with Ectodermal dysplasia, rehabilitated with a maxillary overdenture and a mandibular complete denture. Such a treatment had a great impact on the patient's esthetics, function and self-esteem

Tratamiento protésico de un caso de displasia ectodérmica hipohidrótica / Prosthetic treatment of a hypohydrotic ectodermal dysplasia case

La anodoncia es una entidad asociada con difentes sindromes. En este artículo se reporta el tratamiento con prótesis total de un caso de anodoncia de la dentición decidua y permanente, asociado a un caso de displasia ectodérmica anhidrótica, se introducen algunas variaciones a la técnica convencional para prótesis total, algunas reportadas en la literatura y otras como fruto de la investigación tanto personal como de otros autores