CT findings of a patient with Hay-Wells syndrome: a case report

Hay-Wells syndrome is a rare genetic disorder caused by a heterozygous mutation in the TP63 gene that affects the development of ectodermal derivatives. While the exact prevalence of hearing loss in this condition is not well established, it has been suggested that approximately 50% of patients may present with varying degrees of hearing impairment. Here we present a case of a 6-year-old female patient diagnosed with Hay-Wells syndrome since birth who has been developing hearing loss predominantly on the right side for the past year. Considering the embryological origin of the external ear, an associated abnormality with the syndrome cannot be disregarded. Early recognition and diagnosis of this syndrome are crucial for appropriate management and potential interventions for hearing loss. Utilizing imaging methods can aid in demonstrating the characteristic alterations of the syndrome, which is important given its low incidence in the general population. This case report emphasizes the significance of prompt diagnosis, which is critical for implementing genetic counseling and effective disease prevention measures. We should be well-versed in the characteristic imaging findings that aid in early identification and genetic diagnosis of the disorder.

Dental implants in patients with ectodermal dysplasia: a computer guided quad zygomatic case report and literature review / Implantes dentales en pacientes con displasia ectodérmica: Reporte de caso y revisión de literatura

Abstract Ectodermal dysplasia (ED) is a genetic disorder affecting anatomical structures with an ectodermal origin. The consequent alveolar bone anomalies and lack of teeth require a multidisciplinary approach to rehabilitate patients function and esthetics. To avoid bone grafting procedures the application of zygomatic implants was suggested for the upper jaw treatment. The advancements in three-dimensional (3D) radiology and the introduction of digital implant planning software could enhance the approach to zygomatic implants in ED patients. The present case report describes the quad zygomatic implant treatment of the edentulous maxilla of an ED patient by means of computer guided implant surgery. The patient reported previous failure of bone grafting procedures in the upper jaw. The implants were immediately loaded with a screw-retained complete-arch resin prosthesis. The patient was followed up for 1 year with no biological nor mechanical complications reported, but a slight bone resorption in the anterior zone was observed. Zygomatic implants could be a potential alternative treatment to bone grafting in upper jaw and the digital implant planning could enhance the surgical procedure.

Resumen La displasia ectodérmica (DE) es una enfermedad genética que afecta las estructuras anatómicas de origen ectodérmico. Las consiguientes anomalías del hueso alveolar y la anodoncia requieren un planteamiento multidisciplinario para rehabilitar la función y la estética de los pacientes. Para evitar procedimientos de injerto óseo se sugirió la aplicación de implantes cigomáticos para el tratamiento del maxilar superior. Los avances en radiología tridimensional (3D) y la introducción de software de planificación de implantes digitales podrían mejorar el enfoque de los implantes cigomáticos en los pacientes con displasia ectodérmica. El presente reporte de caso describe el tratamiento con implantes cigomáticos en el maxilar superior edéntulo de un paciente con displasia ectodérmica mediante cirugía de implantes guiada por ordenador. El paciente refirió fracaso de procedimientos de injerto óseo en el maxilar superior. Los implantes se cargaron inmediatamente con una prótesis de resina de arcada completa. El paciente ha sido incluido en un programa de control postoperatorio por 1 año, sin reportarse complicaciones ni biológicas ni mecánicas, siendo el único problema encontrado una ligera reabsorción ósea en la zona anterior. Los implantes cigomáticos podrían ser un posible tratamiento alternativo al injerto óseo en el maxilar superior y la planificación de implantes digitales podría mejorar el procedimiento quirúrgico.

Restoration of a dental defect in a patient with ectodermal dysplasia: a case report and literature review / 口腔疾病防治

Objective@#To explore the treatment options for congenitally missing teeth in patients with ectodermal dysplasia and provide a clinical reference.@*Methods@#A patient with ectodermal dysplasia with a concave midface, anterior protrusion of the chin, and underdevelopment of the lower third of the face presented with congenital loss of multiple maxillary teeth, malocclusion of the remaining teeth, congenital loss of mandibular dentition, small dental arches, and upper and lower alveolar bone hypoplasia. The patient was treated by means of a removable partial maxillary prosthesis, implants in the anterior region of the lower mandible designed with the assistance of digital guides, and bar-clamped implant-overlay prostheses. A literature review of the protocol for the treatment of this condition was also conducted.@*Results@#In addition to good retention and stability after denture wear, an excellent occlusal relationship, improvement of the patient's facial appearance, including upper and lower lip fullness, more equal balancing of the lower and middle 1/3 of the face, and improved masticatory function were achieved. The results of the literature review showed that patients with ectodermal dysplasia who are congenitally edentulous usually have a complex intraoral situation that makes restoration difficult, and common restorative modalities for these patients include fixed bridges, removable partial dentures, complete dentures, overdentures, and implant prostheses, which need to be selected according to the actual intraoral situation of each patient. Currently, there is no consensus on the treatment of congenitally missing teeth in patients with ectodermal dysplasia, and some scholars have suggested that fixed restorations be recommended for patients with fewer missing teeth, while the option of removable or implant-covered denture restorations should be given to patients with more missing teeth, with removeable prostheses for underage patients that are replaced with permanent fixed prostheses when the jaws have stabilized.@*Conclusion@#In patients with ectodermal dysplasia with congenital tooth loss, all factors should be taken into account, and an individualized restorative plan should be developed.

Aplasia cutis congénita con encefalocele: a propósito de un caso clínico / Congenital aplasia cutis with encephalocele: clinical case study / Aplasia cútis congénita com encefalocele: relato de caso

La aplasia cutis es una rara alteración congénita caracterizada por la ausencia de piel, pudiendo llegar a estructuras más profundas: músculo, hueso y duramadre, como en el presente caso. Se localiza más frecuentemente en el cuero cabelludo, donde se asocia a un defecto óseo en el 20% de los casos. Recién nacido de sexo femenino, término, adecuado para la edad gestacional, vigoroso. Con diagnóstico prenatal a las 36 semanas de edad gestacional de encefalocele. Constatándose al nacimiento microcefalia, hipoplasia ósea y cutánea, encefalocele en línea media de cráneo. Se realizó manejo por equipo multidisciplinario, se practicaron varias intervenciones quirúrgicas, con buena evolución.

Aplasia Cutis is a rare congenital condition, defined by the absence of skin in a particular body region, it can also compromise muscle, bone and dura mater as shown in this case. It is mostly located on the scalp, where it is associated with a bone defect in 20% of cases. We will discuss the case of a female newborn, term gestation, vigorous at birth, with prenatal diagnosis of encephalocele at 36 weeks of gestational age. We observed microcephaly, bone and skin hypoplasia, encephalocele in the midline of the skull at birth. Several surgical interventions were carried out and the follow-up was made by a multidisciplinary team, with good evolution.

A Aplasia Cútis é uma alteração congênita rara, caracterizada pela ausência de pele, podendo atingir estruturas mais profundas: muscular, óssea e dura-máter, como neste caso. Localiza-se mais frequentemente no couro cabeludo, onde está associada a um defeito ósseo em 20% dos casos. É apresentado caso de recém-nascida do sexo feminino, a termo, adequada para idade gestacional, vigorosa. Com diagnóstico pré-natal às 36 semanas de idade gestacional de Encefalocele. Microcefalia, hipoplasia óssea e cutânea e encefalocele na linha média do crânio foram confirmadas ao nascimento. O manejo foi realizado por equipe multidisciplinar, diversas intervenções cirúrgicas, com boa evolução.

Displasia ectodérmica: relato de caso de reabilitação estético-funcional / Ectodermal dysplasia: a case report of aesthetic-functional rehabilitation

Objetivo: Descrever o caso clínico de um paciente portador de displasia ectodérmica (DE), discutindo as principais características desta síndrome e o tratamento odontológico proposto. Relato do caso: Paciente do sexo masculino com 6 anos de idade procurou atendimento com a queixa de "ter dificuldades na alimentação e sofrer bullying na escola devido à falta de alguns dentes". Na anamnese o responsável apresentou diagnóstico médico de DE. Ao exame intrabucal observou-se microdontia dos caninos superiores e incisivo central superior esquerdo decíduos, e ausência dos demais elementos dentários. Como proposta de tratamento foram realizadas as reanatomizações com resina composta dos três dentes decíduos presentes em boca e confecção de prótese parcial removível (PPR) superior e prótese total (PT) inferiorpara substituir os dentes faltantes, trazendo a reabilitação estética e protética do paciente, bem como a melhora da sua autoestima e bem-estar. Discussão: A DE é uma doença hereditária de origem embrionária que acomete estruturas derivadas do ectoderma, como os cabelos, unhas, pele, glândulas e dentes. Manifestações dentárias importantes, como agenesia, podem ser verificadas nos pacientes portadores dessa síndrome. Conclusão: Diante disso, é extremamente importante que o cirurgião-dentista saiba identificar as principais características dessa síndrome, já que em muitos casos o mesmo é o primeiro profissional a ser procurado pelo paciente ou sua família. Uma vez estabelecido o diagnóstico, os pacientes acometidos devem receber uma abordagem multiprofissional para o tratamento dessa condição, a fim de promover o bem-estar físico, emocional e aumentar a qualidade de vida dos mesmos.

Aim: describe aclinical case of a patient with ectodermal dysplasia (ED), discussing the main characteristics of this syndrome and the proposed dental treatment. Case report: A 6-year-old male patient sought care complaining of "having difficulties in eating and being bullied at school due to missing some teeth". In the anamnesis, the person responsible presented a medical diagnosis of ED. The intraoral examination showed microdontia of the maxillary canines and deciduous maxillary left central incisor, and absence of other dental elements. As treatment proposals, reanatomizations were carried out with composite resin of the three deciduous teeth present in the mouth and construction of an upper removable partial denture (PPR) and a lower total denture (PT) to replace the missing teeth, bringing the aesthetic and prosthetic rehabilitation of the patient, as well as improving their self-esteem and well-being. Discussion:EDis a hereditary disease of embryonic origin that affects structures derived from the ectoderm, such as hair, nails, skin, glands and teeth. Important dental manifestations, such as agenesis, can be seen in patients with this syndrome. Conclusion:In view of this, it is extremely important that the dentist knows how to identify the main characteristics of this syndrome, since in many cases he is the first professional to be sought by the patient or his family. Once the diagnosis is established, affected patients should receive a multi-professionalapproach to the treatment of this condition, in order to promote physical and emotional well-being and increase their quality of life.

Congenital hand anomalies and rare syndromes in children

Congenital hand anomalies and associated rare syndromes in children are commonly seen in clinical practice and require complete clinical, radiological and genetic evaluation. The purpose of this case series is to describe four rare syndromic children with varied hand anomalies and differences. Three of the children are female and one is a male. Distal limb defects from simple polydactyly, clinodactyly to cleft hand were identified including preaxial anomalies. Significant clinical problems noted were chiefly cosmetic and altered self-image was also noted in one child. The orofacial clefting noted in the child with ectrodactyly ectodermal dysplasia (EEC) syndrome required repeated surgery though the child had minimal feeding difficulty and significant speech delay. Multidisciplinary management is necessary with the early involvement of clinical geneticist.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

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.

Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

X-linked hypohidrotic ectodermal dysplasia management with removable prosthesis in a pediatric patient: case report / Manejo de displasia ectodérmica hipohidrótica ligada al cromosoma X con prótesis removible en un paciente pediátrico: reporte de caso

Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands. Oligodontia is a common finding that affects the chewing, smiling and self- esteem of these pediatric patients. Case Report: We present a case report of a 7-years-old pediatric patient who consulted with his mother, showing the same condition. The intervention consisted of a removable prosthesis with satisfactory results. Conclusion: The X-linked hypohidrotic ectodermal dysplasia represents a challenge for a pediatric dentist who offers rehabilitation to the patient according to craniofacial development, age, socioeconomic status, and the number of missing teeth.

Introducción: La oligodoncia es un hallazgo común que afecta la masticación, la sonrisa y la autoestima de estos pacientes pediátricos. Case Report: Presentamos un reporte de caso de un paciente pediátrico de 7 años que consultó con su madre presentando la misma condición. La intervención consistió en una prótesis de remoción con resultados satisfactorios. Conclusión: La displasia ectodérmica hipohidrótica ligada al cromosoma X representa un desafío para un odontopediatra que ofrece rehabilitación al paciente de acuerdo con el desarrollo craneofacial, la edad, el nivel socioeconómico y el número de dientes faltantes.

Ectodermal Dysplasia in Primary Dentition – A Rare Case Report

Development of the primary and permanent dentition is a complex process wherein there is series of interactions between the ectoderm and ectomesenchyme. A cascade of signaling pathways occur in a spatio-temporal manner resulting in the development and eruption of the human dentition. Any developmental aberrations in shape, size, number, and position can lead to deviations from normal development of teeth. In this book, dental anomalies including gemination, fusion, concrescence, dilaceration, dens invaginatus, DE, taurodontism, enamel pearls, fluorosis, peg?shaped laterals, dentinal dysplasia, regional odontodysplasia and hypodontia etc. are discussed. Diagnosing dental abnormality needs a thorough evaluation of the patient and careful clinical and radiographical examination is required. Furthermore, more complex cases need multidisciplinary planning and treatment.

Building self-esteem by prosthetic rehabilitation in a child with hypohidrotic ectodermal dysplasia, role of pediatric dentist: A case report

Ectodermal dysplasia (ED) is a congenital disorder exhibiting multiple disorders that affect ectodermal tissues. Over 150 different presentations of the syndrome have been reported, of which the most commonly encountered are hidrotic and hypohidrotic variants. In the present paper, we report the case of an 8-year-old male who was diagnosed with hypohidrotic ED by a physician. The extraoral and intraoral findings were recorded and found in accordance with the diagnosed variant. A comprehensive therapy was initiated which included child and parent counseling, familiarizing the child with dental setup, and delivery of a removable partial denture for the upper arch and a removable complete denture for the lower arch. The importance of follow-up and newer dentures as per the growth of the patient was also explained to the parents. The article highlights the key role of a pediatric dentist in managing the child and parents in syndromes as such

Ectodermal dysplasia: A case report

Ectodermal dysplasia (ED) is a rare group of inherited disorders with defects in the development of one or more tissues derived from primary embryonic ectodermal derivatives. The inclusion of ED does not include all ectodermal derivatives and is manifested with a defect in skin, hair, teeth, and eccrine glands. Dry skin, frontal bossing, scanty eyebrows, and hair follicles are common features seen in these patients. The patient may suffer from high fever due to the absence of eccrine glands. Intraoral findings include a partial or complete absence of teeth with generalized spacing. It can be inherited or caused by a genetic mutation, and it can also happen without a family history. This case report presents a 12-year-old female child with hypohidrotic ED involving a multidisciplinary approach in ED that was beneficial both physiologically and psychologically is discussed in this case report.

Oral and cephalometric characteristics of hypohidrotic ectodermal dysplasia: Case report / Características orales y cefalométricas de la displasia ectodérmica hipohidrótica: Reporte de caso

ABSTRACT Hypohydrotic ectodermal dysplasia (HED) is a genetic disorder that affects the development of ectodermal tissues. This study reports a case of a 5-year-old male patient, with clinical extra and intraoral characteristics of HED. The intraoral clinical examination revealed a generalized absence of teeth, panoramic radiograph revealed the presence of permanent first molars with taurodontism, and confirm the oligodontia. Cephalometric analysis revealed a class III skeletal relationship, due to deficiency in the sagittal development of the maxilla and an anti-clockwise growth tendency. Alterations in craniofacial development require multidisciplinary treatment and long-term follow-up to monitor craniofacial growth.

RESUMEN La displasia ectodérmica hipohidrótica (DEH) es un trastorno genético que afecta el desarrollo de los tejidos ectodérmicos. Se realiza el reporte de caso de un paciente masculino de 5 años, con características clínicas extra e intraorales de DEH. El examen clínico intraoral reveló una ausencia generalizada de dientes, la radiografía panorámica reveló la presencia de primeros molares permanentes con taurodontismo y confirmó la oligodoncia. El análisis cefalométrico reveló una relación esquelética de clase III, debido a la deficiencia en el desarrollo sagital del maxilar y una tendencia de crecimiento en sentido antihorario. Las alteraciones en el desarrollo craneofacial requieren un tratamiento multidisciplinario y un seguimiento a largo plazo para controlar el crecimiento craneofacial.

TP63 gene mutation analysis in a case of ankyloblepharon-ectodermal defects-cleft lip/palate syndrome / 中华皮肤科杂志

Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

A case of ADULT syndrome without finger/toe deformities caused by a TP63 mutation / 中华皮肤科杂志

Objective:To detect causative gene mutations in 1 patient with ADULT syndrome mainly presenting with ectodermal dysplasia.Methods:Clinical data were collected from a proband with ADULT syndrome, and genomic DNA was extracted from peripheral blood samples obtained from the proband and his parents. Exome sequencing was performed in the proband by using targeted panels for hereditary skin diseases to determine mutation sites, and then the candidate mutation sites were verified by Sanger sequencing in the family members.Results:The 22-year-old male patient presented with sparse and thin hair, scattered facial freckles, missing permanent teeth, cloudy corneas, palmoplantar erythema and keratosis, nail/toenail dystrophy, and nipple dysplasia. Genetic testing of the peripheral blood genomic DNA of the proband revealed a heterozygous mutation (c.1040G>T) in exon 8 of the TP63 gene, resulting in an amino acid change at position 347 (p.C347F) . The mutation was not detected in his father or mother with normal phenotypes, suggesting the cosegregation of the gene mutation with the disease phenotype in the family.Conclusion:The de novo heterozygous missense mutation in the TP63 gene may be the causative mutation in the proband, and combined with clinical manifestations, the proband was diagnosed with ADULT syndrome without finger/toe deformities.

Novel mutations identified in the WNT10A gene and implant rehabilitation of patients with severe tooth agenesis / 口腔疾病防治

Objective@#To detect WNT10A gene mutations in patients with oligodontia or anodontia (≥6 teeth missing) and analyze their dental phenotype. @*Methods@#Patients with oligodontia or anodontia were enrolled from the clinic for oral examination, genetic history collection and whole exon sequencing, and patients with WNT10A gene mutations were included. Sanger sequencing was utilized to validate the WNT10A gene variations in probands and family members compared with the normal sequence. The pathogenicity of WNT10A mutations was evaluated by functional prediction, conservation analysis and structure prediction of protein mutants. Implant rehabilitation was applied to restore the patients' oral function.@*Results@# Five WNT10A gene mutations were detected in six unrelated patients, and c.26G>A (p. Trp9X) and c.1036delT (p. Cys346fs) were novel mutations with pathogenic potential. The mean number of missing teeth was (15.33±8.64) per case. The most frequently missing permanent teeth were maxillary canines (100%), and the least frequently missing teeth were mandibular first molars (25%). Implant rehabilitation was applied in five patients, and patients were found to have ideal implant osseointegration and functional restoration.@*Conclusion @# This study identified novel WNT10A gene pathogenic variants, enriching the WNT10A gene spectrum and providing new evidence for genetic diagnosis and prenatal consultation. Implant rehabilitation was also proven to be a treatment option for these patients.

Multidisciplinary Treatment on a Case of ROSAH Syndrome / 罕见病研究

A 15-year-old female was referred to the hospital with intermittent fever, where multiple systemic abnormalities were found, such as splenomegaly, secondary hypersplenism, retinitis pigmentosa, and ectodermal dysplasia. Medical history revealed that she had suffered recurrent respiratory infections, blurred vision at night, and dysplasia of teeth and nail beds since childhood. Then she was suspected to be experiencing ROSAH syndrome, a rare disease newly recognized in recent years, which was finally confirmed by gene sequencing results. During a course of treatment with tumor necrosis factor inhibitors, recurrent fever with elevated inflammatory markers reappeared, and the child developed headaches. To guide the comprehensive treatment and improve the patient's quality of life, the multidisciplinary team in Peking Union Medical College Hospital discussed together and directed the following treatment.

Prosthetic dental management of a patient with anhidrotic ectodermal dysplasia: a case report / Manejo protésico dental de un paciente con displasia ectodérmica anhidrótica: reporte de caso

Introduction: Ectodermal dysplasia (ED) comprises a broad group of genetic disorders characterized by alterations of the structures derived from the ectoderm, including those of the stomatognathic system. Case Report: The present article aims to report the prosthetic management of a patient with anhidrotic ectodermal dysplasia. A male patient diagnosed with ED who attended the dental consultation displaying oligodontia; underdeveloped alveolar ridges were observed. Results: The established treatment consisted of the adaptation of implant-supported fixed full-arch prosthesis designed through CAD-CAM technology for the lower jaw and of a removable partial prosthesis with muco-dental support for the upper jaw. The dental approach of patients with ED is based on a correct analysis of the facial characteristics and stomatological conditions of each subject. Conclusion: A multidisciplinary approach is mandatory due to the biological and functional complexity in biomechanical terms of these individuals.

Introducción: La displasia ectodérmica (DE) comprende un amplio grupo de trastornos genéticos caracterizados por alteraciones de las estructuras derivadas del ectodermo, incluidas las del sistema estomatognático. Reporte de Caso: El presente artículo tiene como objetivo informar del manejo protésico de un paciente con displasia ectodérmica anhidrótica. Paciente varón diagnosticado de DE acudió a consulta odontológica por oligodoncia; Se observaron crestas alveolares subdesarrolladas. Resultados: El tratamiento establecido consistió en la adaptación de una prótesis de arcada completa fija implantosoportada diseñada mediante tecnología CAD-CAM para el maxilar inferior y de una prótesis parcial removible con soporte muco-dental para el maxilar superior. El abordaje odontológico de los pacientes con DE se basa en un correcto análisis de las características faciales y condiciones estomatológicas de cada sujeto. Conclusión: Un enfoque multidisciplinario es obligatorio debido a la complejidad biológica y funcional en términos biomecánicos de estos individuos.