الملخص
Objective: To detect gene mutation in patients with hypohidrotic ectodermal dysplasia (HED) by using whole exome sequencing, to analyze the pathogenicity of the mutations, and to provide reference for the genetic diagnosis of HED patients. Methods: Peripheral blood genomic DNA was extracted from each of the HED patients and their family members collected in Peking University School and Hospital of Stomatology from August 2016 to August 2021. Whole exome sequencing and sanger sequencing were performed to detect gene mutations. Functions of the rare variants after the database filtering were analyzed by bioinformatics tools. Results: Three reported mutations of ectodysplasin A (EDA) gene (c.2T>C, c.161A>G, c.467G>A) and a mutation of ectodysplasin A receptor (EDAR) gene (c.871G>A) were detected by whole genome sequencing in four HED patients, and were verified by Sanger sequencing in four HED families. The EDAR gene mutation founded in this research was reported in HED patients for the first time. Bioinformatics tools predicted that the mutations of EDA gene detected in this study were highly species conserved and disease-causing. The combined annotation dependent depletion (CADD) scores of EDA gene mutations c.2T>C, c.161A>G and c.467G>A were 22.5, 26.3 and 25.5 respectively, and the genomic evolutionary rate profiling (GERP) scores were 2.16, 2.26 and 2.18 respectively. The EDAR gene mutation c.871G>A detected in this study was species conserved and possibly disease-causing. The CADD and GERP scores of EDAR gene mutation c.871G>A were 22.0 and 1.93 respectively. Conclusions: Three reported mutations of EDA gene and a previously unreported mutation of EDAR gene were detected in four HED families. Different mutations of EDA gene and EDAR gene could make different influence on the protein function and lead to the occurrence of HED.
الموضوعات
Humans , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia 1, Anhidrotic/genetics , Edar Receptor/genetics , Mutation , Pedigree , Exome Sequencingالملخص
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
الموضوعات
Child , Humans , Abnormalities, Multiple , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Mutation , Proto-Oncogene Proteins B-raf/geneticsالملخص
OBJECTIVE@#To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).@*METHODS@#Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES).@*RESULTS@#The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father.@*CONCLUSION@#The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.
الموضوعات
Child , Humans , Infant , Male , DNA Copy Number Variations , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia 1, Anhidrotic/genetics , Ectodysplasins/genetics , Genetic Testing , Pedigreeالملخص
OBJECTIVE@#To explore the genetic cause of a patient suspected for congenital ectodermal dysplasia with repeated hyperthermia and to assess the reproductive risk for his family.@*METHODS@#Medical whole-exome sequencing (WES) were used to detect single-nucleotide variations and low-coverage massively parallel copy number variation sequencing (CNV-seq) were employed to verify suspected CNVs. PCR and real-time quantitative PCR were applied to confirm the deletion of EDA gene.@*RESULTS@#The results of WES suggested that the patient carried a hemizygous deletion for chrX:69 243 016-69 395 730. CNV-seq indicated that the patient carried a deletion of approximately 0.12 Mb on Xq13.1, which encompassed the EDA gene. The PCR results confirmed that there was a hemizygous deletion of exons 3 to 8 of the EDA gene. The same deletion was not found in his mother.@*CONCLUSION@#The congenital ectodermal dysplasia of the patient may be attributed to deletion of exons 3 to 8 of the EDA gene, which could be de novo or derive from germline mosaicism of his mother. The WES and CNV-seq are of great value for the diagnosis of rare diseases.
الموضوعات
Humans , DNA Copy Number Variations , Ectodermal Dysplasia/genetics , Ectodysplasins/genetics , Exons , Genetic Testing , High-Throughput Nucleotide Sequencing , Mosaicism , Sequence Deletion , Exome Sequencingالملخص
RESUMEN Las displasias ectodérmicas constituyen alteraciones de los derivados embriológicos del ectodermo. Paciente adulta, con hipoparatiroidismo, llamó la atención por su fenotipo y fue remitida de la consulta de Neurología a la consulta Genética. Se diagnosticó una displasia ectodérmica hipohidrótica, de origen genético con herencia autosómica dominante, poco común para esta entidad. Se presenta este caso con el objetivo de describir las manifestaciones clínicas de esta alteración genética, las cuales nunca fueron objeto de interés médico resultando inadvertidas para su estudio y diagnóstico. Esta alteración se asocia a una condición patológica como el hipoparatiroidismo, en la literatura revisada no se encontraron reportes de la misma. La evaluación clínica de la paciente permitió hacer el diagnóstico y explicar muchos de los problemas para los cuales no existían respuestas, así como ofrecer un asesoramiento genético adecuado para ella y para sus familiares con riesgo de padecer una condición genética similar.
ABSTRACT Ectodermic dysplasias are alterations of the ectoderm embryologic derivatives. This is a case of an adult female patient with hypoparathyroidism, drawing attention due to her phenotype; she was remitted by the consultation of Neurology to the Genetic one. She was diagnosed a hypohidrotic ectodermal dysplasia, of genetic origin with autosomal dominant inheritance, what is very rare for this entity. The case is presented with the aim of describing the clinical manifestation of this genetic alteration that never drew medical interest and nobody diagnosed or studied. It is associated to a pathologic condition like hypothyroidism and was not reported in medical literature before. The clinical evaluation of the patient allowed arriving to the diagnostic and explaining many problems that were unexplained, and also offering the adequate genetic advice to her and her relatives likewise at risk of suffering a similar genetic condition.
الموضوعات
Humans , Female , Adult , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/etiology , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/drug therapy , Ectodermal Dysplasia/epidemiology , Genetic Counseling , Hypoparathyroidism/diagnosis , Hypoparathyroidism/etiology , Quality of Life , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/etiologyالملخص
ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.
RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.
الموضوعات
Humans , Female , Child , Adolescent , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/diagnostic imaging , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnostic imaging , Consanguinity , Macular Degeneration/congenital , Siblings , Macular Degeneration/genetics , Macular Degeneration/diagnostic imagingالملخص
We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants. The CCK-8 assay and flow cytometric analyses were used to determine the levels of cell proliferation and apoptosis. Western blot analyses were performed to analyze the relevant clinical indicators of hidrotic ectodermal dysplasia and markers of apoptosis in transfected HaCaT cells. The CCK8 assay and the flow cytometry results showed a significant increase (P<0.05) in the apoptosis of HaCaT cells expressing the A88V and G11R mutants. In addition, we demonstrated that the A88V and G11R mutants induced the apoptosis of transfected HaCaT cells via the activation of caspase-3, -8, -9, and PARA. No change was observed in the activity of BAX compared with the control. This study provides further clarification on the mechanisms underlying the effect of the mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis.
الموضوعات
Humans , Ectodermal Dysplasia/genetics , Apoptosis/genetics , Cell Proliferation/genetics , Connexin 30/physiology , Mutation/drug effects , Cell Line , Cells, Cultured , Doxycycline/pharmacology , Caspases/metabolism , Cell Proliferation/drug effects , Flow Cytometryالملخص
RESUMO Objetivo: EEC é um acrônimo para uma síndrome autossômica dominante caracterizada clinicamente por ectrodactilia (E), displasia ectodérmica efissura labiopalatal (C). Nosso objetivo foi relatar um caso raro de irmãos afetados pela síndrome de ectrodactilia, displasia ectodérmica efissura labiopalatal (EEC) com pais hígidos. Descrição do caso: O paciente era o terceiro filho de pais jovens e hígidos, os quais não apresentavam nenhuma anomalia menor ou maior de mãos e pés ou anomalias de pele, cabelos e dentes. O casal tinha história prévia de duas crianças com malformação de mãos e pés, similar à do paciente. O primeiro foi natimorto e o segundo, prematuro, falecendo nos primeiros dias de vida, pelas consequências da prematuridade. Após o nascimento, o paciente apresentou desconforto respiratório, com necessidade de intubação orotraqueal e ventilação mecânica. No exame físico, verificaram-se a presença de fissura labiopalatal e ectrodactilia de mãos e pés, com ausência do segundo e terceiro dedos em ambas as mãos e defeitos de redução acometendo principalmente o segundo dedo dos pés. A criança apresentou pneumotórax e parada cardiorrespiratória, morrendo com 1 mês e 26 dias de vida. Comentários: Descrevemos aqui um caso de irmãos com síndrome EEC, indicativo de mosaicismo germinativo. Na revisão da literatura, observaram-se apenas três relatos similares. Este caso reforça a possibilidade do mosaicismo germinativo ser um mecanismo de herança mais comum do que se acreditava previamente para casos da síndrome EEC.
ABSTRACT Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. Case description: The patient was the third son of young and healthy parents. The parents did not present any minor or major anomaly of hands, feet or skin, hair and teeth. The couple had a previous history of two children with hands and feet malformations similar to the present patient. The first was a stillborn, and the second one a preterm infant that died in the first days after birth due to the consequences of prematurity. After birth, the patient presented respiratory distress with need of endotracheal intubation and mechanic ventilation. At physical examination, there were cleft lip/palate, hands and feet ectrodactyly, with absence of the second and third fingers in both hands, and reduction defects affecting mainly the second toes. The child presented pneumothorax and cardiorespiratory arrest and died at 1 month and 26 days. Comments: Herein we described a case of siblings with EEC syndrome, indicative of a germline mosaicism. In the literature review, there was the description of only three similar reports. The present case strengthens the possibility that germline mosaicism may be a more common inheritance mechanism than previously thought in cases of EEC syndrome.
الموضوعات
Humans , Male , Infant, Newborn , Ectodermal Dysplasia/genetics , Cleft Lip/genetics , Cleft Palate/genetics , Mosaicism , Parents , Pedigree , Phenotype , Germ-Line Mutation , Fatal Outcomeالملخص
Introdução: A displasia ectodérmica anidrótica com imunodeficiência (DEA) é uma doença caracterizada por mutações nos genes que codificam o NF-kB. Objetivo: Avaliar o efeito do NF-kB na regulação gênica dos componentes do sistema NADPH oxidase de pacientes com DEA. Métodos: Sangue periférico de pacientes com DEA e indivíduos saudáveis foram coletados para a separação de células mononucleares obtidas a partir de sangue periférico e as células B foram imortalizadas com vírus Epstein-Barr (B-EBV) para produção de ânion superóxido e extração de RNA para reação em cadeia da polimerase em tempo real dos componentes do sistema NADPH oxidase. Resultados: A produção de ânion superóxido e a expressão dos genes NCF1 e NCF2 de pacientes DEA foi estatisticamente menor quando comparado com o grupo controle. Conclusão: O NF-kB é necessário para a expressão dos genes NCF1 e NCF2 do sistema NADPH oxidase e produção de ânion superóxido, importantes na defesa contra microrganismos.
Introduction: Anhidrotic ectodermal dysplasia with immunodeficiency (AED) is a disease characterized by mutations in the genes encoding NF-kB. Objective: To evaluate the effect of NF-kB in gene regulation of NADPH oxidase components of patients with AED. Methods: Peripheral blood of patients with AED and healthy individuals were collected for separation of mononuclear cells obtained from peripheral blood and B cells were immortalized with Epstein-Barr virus (B-EBV) to produce superoxide anion and RNA extraction for polymerase chain reaction in real time of NADPH oxidase components. Results: The production of superoxide anion and the expression of NCF1 and NCF2 genes in AED patients was statistically lower when compared to the control group. Conclusion: NF-KB is required for the expression of NCF1 and NCF2 gens of NADPH oxidase system and superoxide anion production, important in the defense against microorganisms.
الموضوعات
Humans , Ectodermal Dysplasia/genetics , NADPH Oxidases , Free Radicals , Immunologic Deficiency Syndromesالملخص
Introdução: A Displasia Ectodérmica refere-se a distúrbios que promovem displasia ou aplasia de estruturas e tecidos derivados da ectoderme. Tal condição geralmente é herdada por padrão recessivo com lincagem cruzada, tendo sua frequência e severidade mais pronunciada nos homens. Objetivo: relatar o caso clínico de Displasia Ectodérmica Hereditária. Relato de caso: paciente do sexo feminino TVLV, 25 anos, leucoderma, que procurou um serviço privado de Radiologia Odontológica no município de João Pessoa, Paraíba, Brasil. Foi relatado, pela paciente, que seu pai, já falecido, era portador dessa síndrome. Durante o exame clínico extrabucal, observou-se ressecamento dos lábios e olhos, escurecimento da pele na região periocular, cabelos e pêlos finos e esparsos. A paciente não revelou queixa de xerostomia nem episódios de hipertermia. Havia perda de dimensão vertical, região frontal proeminente e as unhas não apresentavam aspectos de anormalidade. Ao exame clínico intrabucal, verificou-se permanência de 11 dentes decíduos e ausência de 19 dentes permanentes. A oligodontia parcial foi então confirmada pelo exame radiográfico panorâmico. A expressão parcial das características sindrômicas pode ser explicada pela Hipótese de Lyon (inativação do X), com metade dos cromossomos X da paciente expressando genes normais e a outra metade os genes anormais. Conclusão: Foi recomendado aconselhamento genético e visitas periódicas ao dentista. É fundamental a importância do cirurgião dentista no diagnóstico desse distúrbio, inclusive nesses casos de amenização dos sinais e sintomas(AU)
Introducción: la displasia ectodérmica se refiere a trastornos que promueven displasia o aplasia en estructuras y tejidos derivados del ectodermo. Esta afección generalmente se hereda con patrón recesivo lincagem cruz, llevando su frecuencia y gravedad más pronunciado en los hombres. Objetivo: este trabajo tiene como objetivo presentar un caso de displasia ectodérmica hereditaria. Presentación del caso: paciente TVLV femenina, de 25 años, leucoderma, que buscaba un servicio de radiología privada en la ciudad de João Pessoa, Paraíba, Brasil. Se ha informado por parte de la paciente que su padre, ya fallecido, fue diagnosticado con este síndrome. Durante el examen extrabucal, se observó sequedad de los labios y los ojos, oscurecimiento de la piel en la región periocular, cabello fino y escaso. La paciente no reveló xerostomía o episodios de hipertermia. No hubo pérdida de dimensión vertical; se observó frente prominente y uñas de aspecto normal. Por examen clínico intraoral se constató retención de 11 dientes primarios y ausencia de 19 dientes permanentes. La oligodoncia parcial fue confirmada por el examen radiográfico panorámico. La expresión parcial de las características sindrómicas se puede explicar por la hipótesis de Lyon (inactivación X), con la mitad de los cromosomas X de los pacientes que expresan genes normales y la otra mitad genes anormales. Conclusiones: se recomienda la asesoría genética y las visitas regulares al dentista. Es fundamental el diagnóstico de este trastorno por el odontólogo aun en los casos de reblandecimiento de los signos y síntomas(AU)
Introduction: ectodermal dysplasia refers to disorders that promote dysplasia or aplasia structures and tissues derived from ectoderm. This condition is usually inherited by recessive pattern with lincagem cross, taking their frequency and severity more pronounced in men. Objective: the aim was to report a case of Hereditary Ectodermal Dysplasia. Case report: patient TVLV female, aged 25, leucoderma, which sought a private radiology service in the city of João Pessoa, Paraíba, Brazil. It was reported by the patient, his father, now deceased, was diagnosed with this syndrome. During the extraoral examination, there was dryness of the lips and eyes, skin darkening in the periocular region, hair thin and sparse. The patient did not reveal xerostomia or episodes of hyperthermia. There was loss of vertical dimension, prominent forehead and nails were normal. The clinical examination intrabucal, there was retention of 11 primary teeth and the absence of 19 permanent teeth. The partial oligodontia was then confirmed by radiographic examination. The partial expression of syndromic features can be explained by the Lyon hypothesis (X inactivation), with half of the X chromosomes of patients expressing normal genes and half the abnormal gene. Conclusions: it was recommended genetic counseling and regular visits to the dentist. It´s fundamental the diagnosis of this disorder for the odontologist even in the cases of softening of signs and symptoms(AU)
الموضوعات
Humans , Female , Adult , Ectodermal Dysplasia/genetics , Anodontia/diagnostic imagingالملخص
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.
الموضوعات
Female , Humans , Infant, Newborn , Ectodermal Dysplasia/genetics , Limb Deformities, Congenital/genetics , Scalp Dermatoses/congenital , Ectodermal Dysplasia/diagnosis , Fatal Outcome , Fetal Death , Limb Deformities, Congenital/diagnosis , Phenotype , Severity of Illness Index , Scalp Dermatoses/diagnosis , Scalp Dermatoses/geneticsالملخص
El síndrome ectrodactilia, displasia ectodérmica y fisura de labio/paladar es una entidad poco frecuente, asociada a la mutación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.
The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.
الموضوعات
Humans , Infant, Newborn , Male , Cleft Lip/genetics , Cleft Palate/genetics , Ectodermal Dysplasia/genetics , Limb Deformities, Congenital/genetics , Pedigree , Phenotype , Syndromeالملخص
El Diagnóstico es Sindrome de Ectrodactilia-displasia ectodermica y Fisura palatina (EEC Syndrome) (Ectrodactyly-ectodermic dysplasia-cleft).
الموضوعات
Humans , Male , Child, Preschool , Fingers/abnormalities , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Cleft Palate/diagnosis , Cleft Palate/genetics , Argentinaالملخص
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of generalized aggressive periodontitis was noticed in these patients. EEC syndrome could be a new addition to the group of genetic disorders associated with aggressive periodontitis.
الموضوعات
Aggressive Periodontitis/epidemiology , Aggressive Periodontitis/genetics , Ectodermal Dysplasia/epidemiology , Ectodermal Dysplasia/genetics , Female , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Humans , Young Adultالملخص
A 4-year-old male child presented with history of dry skin, scanty scalp hair, and decreased sweating since birth. On examination scalp hair were scanty, thin, dry and brownish in color. Facial features were frontal bossing, saddle shaped nose, thick everted lips and low set large ears. There was partial adontia with only one conical incisor tooth. There was generalized dryness of the skin. Mucosae and nails were normal. Histopathology of the skin showed rudimentary and decreased number of eccrine sweat glands, which confirmed the diagnosis of hypohidrotic ectodermal dysplasia
الموضوعات
Humans , Male , Hypohidrosis/complications , Ectodermal Dysplasia/genetics , Eccrine Glands/pathologyالملخص
INTRODUCCIÓN. La incontinencia pigmentaria es una rara genodermatosis, presente habitualmente en el sexo femenino, que se caracteriza por alteraciones en los derivados del ectodermo superficial y del neuroectodermo. El objetivo de esta investigación fue resumir las características clínicas de esta entidad. MÉTODOS. Se revisaron 28 historias clínicas de niños atendidos en la consulta de genética clínica del Hospital Pediátrico William Soler (Ciudad de La Habana), que tenían diagnóstico clínico de incontinencia pigmentaria. De las historias se tomaron los datos sobre el inicio y evolución de la enfermedad, así como la información aportada por las interconsultas de varias especialidades como dermatología, estomatología y neurología. Cuando fue posible se hizo una reevaluación clínica de los afectados. RESULTADOS. Solo 1 de los 28 pacientes era del sexo masculino. Entre las primeras lesiones detectadas se encontraron 13 casos de vesículas (43,3 por ciento), 2 casos de eritema y 2 de descamación. Se encontraron máculas de tipo hipercrómicas en 27 niños (96,6 por ciento), hipocrómicas en solo 1 y verrugosas en 3. Las lesiones se distribuyeron en los miembros inferiores en 22 casos (73,3 por ciento) y en 19 casos en los miembros superiores y en el tórax (63,3 por ciento); en 21 pacientes (70 por ciento) fueron bilaterales. Con respecto a los anexos de la piel, se encontró alopecia en 3 casos (10 por ciento), hipodoncia en 8 casos (26,6 por ciento) y distrofia de las uñas en 3 (10 por ciento). Se encontraron escleras azules en 6 casos (20 por ciento) y estrabismo en 5 (16,6 por ciento). Como expresión de daño del sistema nervioso central se observó retraso mental en 12 casos (40 por ciento) y convulsiones en 6 (20 por ciento). CONCLUSIONES. La incontinencia pigmentaria es una entidad heterogénea desde el punto de vista clínico, pero es posible su reconocimiento por alteraciones en la piel que atraviesan estadios previsibles
INTRODUCTION. The pigmentary incontinence is an uncommon genodermatosis usually present in female sex characterized by alterations in derivatives of superficial ectoderm and of neuroectoderm. The aim of present research was to summarize the clinical features of this entity. METHODS. Twenty eight medical records from children seen in the clinical genetics consultation of "William Soler" Children Hospital (Ciudad de La Habana) diagnosed with pigmentary incontinence. From the medical records we got the data on onset and course of this disease, as well as the information offered by inter-consultations of some specialties including Dermatology, Stomatology and Neurology. When it was possible a clinical re-assessment of involved was carried out. RESULTS. Only 1 of the 28 patients was of male sex. Among the first lesions detected were the presence of vesicles in 13 cases (43,3 percent), erythema in 2 cases and epidermis shedding in 2 cases. There were hyperchromic maculae in 27 children (96,6 percent), hypochromic in only one and verrucous type in three. Lesions were distributed in lower extremities in 22 cases (73,3 percent) in upper extremities and thorax in 19 cases (63,3 percent) and in 21 patients (70 percent) were bilateral. Regarding the skin annexes there was alopecia in 3 cases (10 percent), hypodontia in 8 cases (26,6 percent) and nails dystrophy in 3 cases (10 percent), as well as blue sclera in 6 cases (20 percent) and strabismus in 5 cases (16,6 percent). As an expression of damage in the central nervous system there was mental retardation in 12 cases (40 percent) and convulsions in 6 cases (20 percent). CONCLUSIONS. The pigmentary incontinence is a heterogeneous entity from the clinical point of view but it is possible its recognition due to skin alterations to go through foreseeable stages. It is necessary to take into account that it could be masked by the skin color or by the moment of physical examination of patient
الموضوعات
Humans , Female , Child , Ectodermal Dysplasia/genetics , Incontinentia Pigmenti/diagnosisالملخص
In oral cavity, the spectrum of diseases due to genetic alterations ranges from developmental disturbances of teeth to the pre-cancerous and cancerous lesions. Of late, significant progress has been made in the molecular analysis of tumors. With molecular genetic testing emerging as diagnostic, prognostic, and therapeutic approach, a review of genetic alterations ranging from the development of oro-facial structures to the tumors in the head and neck region are addressed in this article. The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, tooth agenesis (non-syndromic, syndromic), tooth structural alterations, syndromic oro-facial defects, bone diseases, skin diseases (genodermatoses), and malignant tumors. In this literature, various genes involved in the development of the oro-facial structures and tooth in particular are discussed. The genetic basis of disorders in the tooth development (agenesis, hypodontia), tooth structural defects like amelogenesis imperfecta (AI), dentinogenesis imperfecta (DI), and oro-facial structural alterations (various syndromes) are explained.
الموضوعات
Anodontia/genetics , Craniofacial Abnormalities/genetics , Ectodermal Dysplasia/genetics , Genes, Homeobox , Humans , Odontogenesis/genetics , Tooth Abnormalities/geneticsالملخص
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
الموضوعات
Humans , Male , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/therapy , Anodontia/diagnosis , Anodontia/genetics , Genetic Testing , Prosthodonticsالملخص
Witkop's tooth and nail syndrome is a rare autosomal dominant disorder of ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been shown to be associated with this syndrome. There is failure of development and eruption of the dentition. Tooth shape may vary; the most common forms are conical and narrow crowns. The nails may be spoon shaped and slow growing and affect both finger and toe nails. The nail involvement is more severe in childhood. The present case describes a 14-year-old boy who showed the characteristic features of Witkop's syndrome. A multifaceted approach to the dental management of the patient is discussed.