A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome / 医学前沿

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Oculoectodermal syndrome: twentieth described case with new manifestations

Abstract Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition. Our patient also reported infantile hemangioma on the right wrist and verrucous hemangioma on the left leg, the latter not previously described in the literature.

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.

Aplasia cutis congenita of the scalp- what are the steps to be followed? Case report and review of the literature

Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp and a small, atrophic hairless scar appeared 6 months later (approximately 5cm in length) at the site of the previous tumor.

Dermatopathia pigmentosa reticularis and atopic dermatitis: a case report of two siblings

Dermatopathia pigmentosa reticularis is a rare reticulate pigmentary disorder which starts during infancy or childhood and consists of a triad of generalized reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy. We report 2 sisters with this syndrome with an additional association of atopic dermatitis in the elder one

Aplasia congênita da cútis em membros inferiores: relato de caso / Aplasia cutis congenita on the lower limbs: a case report

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.

Clouston syndrome associated with eccrine syringofibroadenoma

Eccrine syringofibroadenoma is a rare benign neoplasia derived from acrosyryngium cells of the eccrine sudoriferous glands. It affects the extremities of elderly individuals as solitary tumors, or may also present as multiple lesions. There are controversies about the pathogenesis and differentiation of the tumor. Eccrine syringofibroadenoma has been associated with subjacent conditions, such as for example, hypohidrotic ectodermic dysplasias. The authors describe a case report of a patient with Clouston Syndrome, who presented papules and nodules in extremities, clinically and histologically compatible with eccrine syringofibroadenoma. There are only three cases described in the literature, associated with Clouston Syndrome, and this is the fourth case.

Syndrome in Question

Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.

Syndromic association of pyloric atresia and Epidermolysis bullosa (Carmi syndrome) - a case report / Asociación sindrómica de la atresia pilórica y la Epidermolisis bullosa (síndrome de Carmi) - un reporte de caso

Epidermolysis bullosa (EB) is an inherited, autosomal recessive, bullous disease, characterized by blisters followed with skin and mucosal erosions. We present a case of a male infant with pyloric atresia associated with junctional EB (Carmi syndrome). The patient underwent urgent laparotomy after prompt stabilization. Postoperative course was uneventful. Nine months later, the patient died in the paediatric intensive care unit from respiratory distress syndrome. Prognosis is usually very poor. Death usually occurs during the first year of life, as a result of septic complications.

La epidermólisis bullosa (EB) es una enfermedad hereditaria, autosómica recesiva, y bullar, caracterizada por ampollas acompañadas de erosiones de las mucosas y la piel. Presentamos el caso de un niño con atresia pilórica asociada con EB juntural (síndrome de Carmi). El paciente fue sometido a laparotomía urgente después de una rápida estabilización. Curso postoperatorio transcurrió sin incidentes. Nueve meses más tarde, el paciente murió en la unidad de cuidados intensivos pediátricos de síndrome de dificultad respiratoria (SDR). El pronóstico es generalmente muy pobre. La muerte ocurre generalmente durante el primer año de vida, como consecuencia de las complicaciones sépticas.

Displasia ectodérmica hipohidrótica: un síndrome de interés para la odontología / Hypohidrotic ectodermal dysplasia: a syndrome of interest to dentistry

La displasia ectodérmica hipohidrótica (DEH) es una enfermedad rara de etiología genética. La forma más frecuente es la de herencia recesiva relacionada al cromosomo X con sujetos de sexo masculino afectados y de sexo femenino portadores. Pueden ocurrir a través de mutaciones autosómicas, y en estas, las del gene EDA1 son responsables por la mayoría de los casos. Se caracteriza por la tríada: hipohidrosis, oligodoncia e hipotricosis. Presentamos dos casos de pacientes con DEH en los cuales se observaron signos característicos del síndrome: piel delicada; cabellos, cejas y pestañas escasos; arrugas periorbitales; hiperpigmentación perioral y periorbital; labios prominentes y además de eso el paciente del caso 2 presentaba depresión del puente nasal. Se constató aún disminución de la secreción salival y lagrimal y hipoplasia de maxila en los dos casos. Al examen oral estaban presentes en el caso 1 los caninos superiores derecho e izquierdo temporales y el canino inferior derecho temporal y en el caso 2 los caninos superiores e inferiores (derechos e izquierdos) temporales y dos incisivos superiores (uno derecho y otro izquierdo) permanentes con morfología alterada, siendo todos los elementos dentarios íntegros. El tratamiento odontológico precoz de los portadores de DEH, principalmente en la presencia de oligodoncia, como la que se observa en los casos aquí reportados, es importante no solamente para ofrecer mejor calidad de vida para estos pacientes en corto plazo, sino también en el intento de mitigar las alteraciones en el crecimiento facial a que estos pacientes están sometidos.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.

Reabilitação estético-funcional de paciente com displasia ectodérmica em idade precoce / Early aesthetic functional rehabilitation of patient with ectodermal dysplasia

A displasia ectodérmica representa um complexo grupo de doenças com características clínicasrelacionadas principalmente às estruturas do ectoderma, como pele, anexos cutâneos,cabelos, unhas, glândulas sudoríparas e dentes. Dentre as alterações dentais, as anomalias denúmero e forma são bastante comuns, tanto na dentição decídua como na permanente, levandoao comprometimento bucal estético e funcional. Este trabalho visa apresentar um casoclínico de displasia ectodérmica em paciente odontopediátrico, descrevendo as anormalidadesdentais e a conduta de reabilitação oral adotada para estabelecimento da função, estética eequilíbrio psicológico.

Ectodermal dysplasia is a complex group of diseases with clinical features related mainlywith ectodermal structures such as skin, skin appendages, hair, nails, sweat glands and teeth.Among the dental alterations, the absence of some teeth and morphologic anomalies are extremelycommon, both in the primary and permanent teeth resulting in esthetical and functionalcompromise. This report aims to present teeth abnormalities and the clinical procedures involvedin the child's oral rehabilitation carried out in order to restore the function, the estheticaland the psychological equilibrium.

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.

Síndrome de rapp hodgkin: a propósito de un caso: Centro de Recuperación Nutricional "Dr. Pastor Oropeza" San Cristóbal Estado Táchira-Venezuela noviembre 2003 / Rapp-Hodgkin syndrome: a purpose of a case: Centro de Recuperación Nutricional Dr. Pastor Oropeza San Cristóbal stado Táchira-Venezuela november 2003

La displasia ectodérmica hereditaria (DEH), representa un grupo de disturbios caracterizados por aplasia o displasia de estructuras y tejidos derivados del ectodermo. Las estructuras generalmente afectadas incluyen el cabello, piel, uñas, dientes y diversas glándulas. Esta condición representa un disturbio raro y se estima su frecuencia de un caso a cada 10.000 ó 100.000 nacimientos. La detección de la DEH en recién nacidos y en los primeros años de la infancia puede ser tarea difícil, debido a pocos cabellos y pelos, así como la ausencia de dientes, son características muy comunes durante esos períodos. Después de los primeros años de vida el diagnóstico es realizado con mayor facilidad, basados en la historia clínica del paciente y el examen físico. Es importante resaltar que en muchas circunstancias la DEH puede presentar características semejantes o hasta estar asociada a otros síndromes, tales como a ectocractilia displasia ectodérmica (EEC), síndrome trico-rino-falangeral y enfermedad de Robinson. El tratamiento de la DEH es exitosa cuando se establece el diagnóstico en el período adecuado o sea en la infancia. Un control multidisciplinario, instituido en los primeros años de vida del paciente, puede minimizar las posibles complicaciones odontológicas y médicas.

Displasia ectodérmica hipohidrótica / Hypohidrotic ectodermal dysplasia

A displasia ectodérmica (DE) é uma rara doença congênita que afeta várias estruturas provenientes do ectoderma, principalmente cabelos, unhas, dentes, pele, glândulas sudoríparas e sebáceas. A displasia ectodérmica hipohidrótica ligada ao cromossomo X é a forma mais conhecida e uma das quais o cuidado odontológico é a etapa mais importante do tratamento. Este artigo ressalta a importância do diagnóstico e intervenção precoce da síndrome e relata a abordagem odontológica integral da paciente atendida. Durante uma visita domiciliar, foi constatado a DE e a paciente foi encaminhada para o ambulatório do curso de odontologia da universidade, em que por meio da anamnese, exame clínico e radiográfico foi elaborado o plano de tratamento. Foram realizados procedimentos educativos e preventivos, como instrução de higiene bucal e da dieta alimentar, controle de placa bacteriana e remoção de hábitos bucais ou deletérios, juntamente com procedimentos de reabilitação oral. Conclui-se que o diagnóstico e o tratamento precoce são fatores importantes para melhorar as condições estéticas, funcionais e psicológicas das crianças afetadas

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.

EEC syndrome--a case report.

EEC syndrome is a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate and ocular adnexia anomalies. A case report of a 10 year old female patient with EEC is presented and it is emphasised that management of these cases requires a multidisciplinary approach. Early diagnosis will allow parents to get accurate counseling and in particular obtain reassurance regarding the low risk of mental handicap.