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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764512

RESUMO

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40–50%), SOS1 (10–20%), RAF1 (3–17%), and RIT1 (5–9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.


Assuntos
Anormalidades Congênitas , Síndrome de Costello , Diagnóstico , Ectoderma , Eletrocardiografia , Genitália , Genótipo , Cardiopatias , Humanos , Hipertelorismo , Deficiência Intelectual , Lentigo , Síndrome de Noonan , Panthera , Proteínas Quinases , Puberdade Tardia , Estenose da Valva Pulmonar , Tórax
2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764507

RESUMO

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.


Assuntos
Bases de Dados Genéticas , Mutação em Linhagem Germinativa , Cabelo , Humanos , Hipertelorismo , Deficiência Intelectual , Megalencefalia , Prevalência , Comportamento Problema , Convulsões , Tórax
3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785444

RESUMO

Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal tip, and a widow's peak hairline. Frontonasal dysplasia is mostly inherited and caused by the ALX genes (ALX1, ALX3, and ALX4). We report a rare case of a frontonasal dysplasia patient with mild hypertelorism, a broad nasal root, an underdeveloped nasal tip, an accessory nasal tag, and a widow's peak. We used soft tissue re-draping to achieve aesthetic improvements.


Assuntos
Humanos , Hipertelorismo , Fenótipo
4.
Kosin Medical Journal ; : 117-121, 2018.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-715141

RESUMO

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).


Assuntos
Síndrome do Miado do Gato , Análise Citogenética , Idade Gestacional , Humanos , Hipertelorismo , Recém-Nascido , Recém-Nascido Prematuro , Cariótipo , Cariotipagem , Imagem por Ressonância Magnética , Micrognatismo , Ponte , Respiração , Ventilação
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-728809

RESUMO

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.


Assuntos
Anticonvulsivantes , Septo Interatrial , Deficiências do Desenvolvimento , Diagnóstico Precoce , Eletroencefalografia , Exoma , Perda Auditiva , Comunicação Interventricular , Humanos , Hipertelorismo , Lactente , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Masculino , Transtornos do Neurodesenvolvimento , Manifestações Neurológicas , Fenótipo , Convulsões
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-741541

RESUMO

BACKGROUND: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. METHODS: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. RESULTS: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters’ view; shorter zygomatico-maxillary width (83.5 mm) in Waters’ view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. CONCLUSION: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.


Assuntos
Acrocefalossindactilia , Adulto , Criança , Exoftalmia , Testa , Mãos , Humanos , Hipertelorismo , Masculino , Maxila , Septo Nasal , Nariz , Osteotomia , Palato , Prognatismo , Prosencéfalo , Crânio , Base do Crânio , Suturas , Sindactilia
8.
Rev. Col. Bras. Cir ; 44(4): 383-390, jul.-ago. 2017. tab, graf
Artigo em Português | LILACS (Américas) | ID: biblio-896598

RESUMO

RESUMO Objetivo: apresentar nossa experiência no tratamento cirúrgico do hiperteleorbitismo na displasia craniofrontonasal. Métodos: análise retrospectiva dos pacientes com displasia craniofrontonasal operados por orbital box osteotomy ou por bipartição facial entre os anos de 1997 e 2015. Informações sobre as intervenções cirúrgicas foram obtidas dos prontuários médicos, exames complementares, fotografias e entrevistas clínicas. Os resultados cirúrgicos foram classificados com base na necessidade de cirurgia adicional, e a recidiva orbital foi calculada. Resultados: sete pacientes do sexo feminino foram incluídas, três submetidas à orbital box osteotomy (42,86%) e quatro (57,14%) à bipartição facial. Houve uma recidiva orbital média de 3,71±3,73mm. A média global dos resultados cirúrgicos de acordo com a necessidade de novas cirurgias foi de 2,43±0,53. Conclusão: a abordagem cirúrgica do hiperteleorbitismo na displasia craniofrontonasal deve ser individualizada, respeitando, sempre que possível, a idade e as preferências dos pacientes, seus familiares e cirurgiões.


ABSTRACT Objective: to present our experience in the hypertelorbitism surgical treatment in craniofrontonasal dysplasia. Methods: retrospective analysis of craniofrontonasal dysplasia patients operated through orbital box osteotomy or facial bipartition between 1997 and 2015. Surgical data was obtained from medical records, complementary tests, photographs, and clinical interviews. Surgical results were classified based on the need for additional surgery and orbital relapse was calculated. Results: seven female patients were included, of whom three (42.86%) underwent orbital box osteotomy and four (57.14%) underwent facial bipartition. There was orbital relapse in average of 3.71±3,73mm. Surgical result according to the need for further surgery was 2.43±0.53. Conclusion: surgical approach to hypertelorbitism in craniofrontonasal dysplasia should be individualized, respecting the age at surgery and preferences of patients, parents, and surgeons.


Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Anormalidades Craniofaciais/complicações , Hipertelorismo/cirurgia , Hipertelorismo/complicações , Fenótipo , Estudos Retrospectivos , Procedimentos Cirúrgicos Reconstrutivos/métodos
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-207272

RESUMO

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital. Surgical techniques used to correct the deformity were box osteotomy and medial wall osteotomy with or without calvarial and rib grafts. A few of our cases were reoperations with specific challenges.


Assuntos
Transtornos Cromossômicos , Anormalidades Congênitas , Cisto Dermoide , Encefalocele , Hipertelorismo , Nariz , Órbita , Osteotomia , Costelas , Transplantes
10.
An. bras. dermatol ; 91(4): 541-543, July-Aug. 2016. graf
Artigo em Inglês | LILACS (Américas) | ID: lil-792451

RESUMO

Abstract: The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.


Assuntos
Humanos , Masculino , Adulto , Neoplasias Cutâneas/patologia , Síndrome do Nevo Basocelular/patologia , Escoliose/patologia , Escoliose/diagnóstico por imagem , Radiografia Panorâmica , Cistos Odontogênicos/patologia , Cistos Odontogênicos/diagnóstico por imagem , Hipertelorismo/patologia
11.
Rev. méd. Minas Gerais ; 26(supl. 2): 53-56, 2016. ilus
Artigo em Português | LILACS (Américas) | ID: biblio-882460

RESUMO

A Síndrome de DiGeorge (SDG) decorre de uma microdeleção 22q11.2, sendo considerada uma das microdeleções mais frequentes em humanos. Caracteriza-se por espectro fenotípico bastante amplo, incluindo dificuldade de aprendizado, fácies dismórfica, anomalias cardíacas, hipocalcemia, hipoparatireoidismo, fenda palatina, anomalias do timo, insuficiência imunológica e problemas de fala e alimentação. Contudo, nenhum achado é patognomônico ou mesmo obrigatório. Este relato de caso pretende chamar a atenção para essa síndrome como causa potencial de hipocalcemia e convulsões hipocalcêmicas mesmo após o período neonatal. Reporta-se a história clinico-laboratorial e manejo de um menino de 12 anos, diagnosticado aos sete com SDG em decorrência de facies típica e crise convulsiva hipocalcêmica. O paciente apresentava diagnóstico prévio de transtorno do déficit de atenção e hiperatividade, atraso no desenvolvimento neuropsicomotor e fácies suspeita (micrognatia, orelhas de implantação baixa, hipertelorismo, nariz angular). A hipocalcemia que deflagrou a crise convulsiva foi secundária ao hipoparatireoidismo, sendo tratado com carbonato de cálcio e calcitriol. Houve melhora clínica, porém se manteve hipocalcêmico, apesar de dose otimizada da medicação. O caso é atípico, já que o diagnóstico de SDG foi feito tardiamente, visto que a maioria dos casos é diagnosticada no período neonatal. Além disso, o quadro demonstra a variabilidade de achados clínicos que podem ser encontrados nessa síndrome e a importância de se investigar a SDG em pacientes que apresentem hipocalcemia, mesmo em idades mais avançadas. Salienta-se que o diagnostico tem relevância na implicação dos cuidados à saúde, devido aos riscos imunológicos e cardiológicos apresentados pelos pacientes portadores, devendo ser realizado o mais precocemente possível.(AU)


The DiGeorge Syndrome (DGS) stems from a 22q11.2 microdeletion and is considered one of the most frequent microdeletions in humans. It is characterized by very wide phenotypic spectrum, including learning disability, dysmorphicfacies, cardiac abnormalities, hypocalcemia, hypoparathyroidism, cleft palate, thymus abnormalities, immune impairment and speech and feeding problems. However, any finding is pathognomonic or even mandatory. This case report aims to draw attention to this syndrome as a potential cause of hypocalcemia and hypocalcemic seizures even after the neonatal period. Refers to clinical and laboratory history and management of a boy of 12, diagnosed at 07 with DGS due to typical facies and hypocalcemic seizure. The patient had a previous diagnosis of attention deficit hyperactivity disorder, developmental delay and suspected facies (micrognathia, low-set ears, hypertelorism, angular nose). Hypocalcemia that triggered the seizure was secondary to hypoparathyroidism, being treated with calcium carbon- ate and calcitriol. There was clinical improvement, but hypocalcemic remained despite optimal medication dose. The case is atypical, since the diagnosis DGS was made later, as the majority of cases are diagnosed in the neonatal period. In addition, the table shows the variability of clinical findings that can be found in this syndrome and the importance of investigating the DGS in patients who have hypocalcaemia, even at older ages. Please note that the diagnosis is relevant in the involvement of health care due to immunological and cardiac risks posed by patients and should be done as early as possible.(AU)


Assuntos
Humanos , Masculino , Criança , Convulsões/complicações , Síndrome de DiGeorge/diagnóstico , Hipocalcemia/complicações , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Fissura Palatina/complicações , Síndrome de DiGeorge/complicações , Hipertelorismo/complicações , Hipoparatireoidismo/complicações , /complicações , Micrognatismo/complicações
12.
Rev. bras. cir. plást ; 31(4): 578-582, 2016. tab, ilus
Artigo em Inglês, Português | LILACS (Américas) | ID: biblio-827466

RESUMO

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.


A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , História do Século XXI , Patologia Bucal , Cardiomiopatia Hipertrófica , Síndrome do Nevo Basocelular , Megalencefalia , Hipertelorismo , Reabilitação Bucal , Patologia Bucal/métodos , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/terapia , Síndrome do Nevo Basocelular/cirurgia , Síndrome do Nevo Basocelular/complicações , Síndrome do Nevo Basocelular/terapia , Megalencefalia/cirurgia , Megalencefalia/patologia , Hipertelorismo/cirurgia , Hipertelorismo/complicações , Hipertelorismo/patologia , Reabilitação Bucal/métodos
13.
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (1): 137-140
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-176226

RESUMO

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature [sister] chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes


Assuntos
Humanos , Feminino , Pré-Escolar , Hipertelorismo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Citogenética , Centrômero , Cromátides , Aneuploidia
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-83790

RESUMO

We wish to show our experiance with threating a rare congenital brain malformation-encephalocele. It is a protusion of brain matter with greater incidence in the Far East. Our case is even more curious because of the site of occurrence-frontobasal. Most of encephalocele occur in the occipital region. In this article we report a case of a 57-year-old woman, without deformations on the face, which had epileptic seizures and in spite of receiving antiepileptic drug. She was also frequently treated for sinusitis. She never had rhinoliquorrhea, nor was she diagnosed to have meningitis. In the last few years she had difficulty breathing on her right nostril. After she was diagnosed with encephalocele and treated surgically her recovery was complete and she is without the seizures.


Assuntos
Encéfalo , Encefalocele , Epilepsia , Extremo Oriente , Feminino , Cefaleia , Humanos , Hipertelorismo , Incidência , Meningite , Pessoa de Meia-Idade , Respiração , Convulsões , Sinusite
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785261

RESUMO

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.


Assuntos
Centros Médicos Acadêmicos , Adolescente , Síndrome do Nevo Basocelular , Carcinoma Basocelular , Fenda Labial , Fissura Palatina , Diagnóstico , Humanos , Hipertelorismo , Arcada Osseodentária , Megalencefalia , Masculino , Cistos Odontogênicos , Tumores Odontogênicos , Prognatismo , Costelas
16.
Rev. ANACEM (Impresa) ; 7(2): 96-99, ago. 2013. ilus
Artigo em Espanhol | LILACS (Américas) | ID: lil-716562

RESUMO

INTRODUCCIÓN: El Síndrome de Gorlin o síndrome del nevo basocelular es una enfermedad hereditaria autosómica dominante, caracterizada por anomalías del desarrollo y predisposición a carcinomas basocelulares múltiples, que constituyen uno de los aspectos más preocupantes de esta patología. Pese a su baja prevalencia y manejo por especialistas, es importante para los médicos generales tener los conocimientos necesarios para identificar y derivar lesiones sospechosas de carcinoma basocelular. PRESENTACIÓN DEL CASO: Mujer previamente sana que a los 28 años de edad debuta con dos nevus basocelulares faciales confirmados histológicamente. En la anamnesis y el examen físico se observan prominencias frontales, implantación amplia de la nariz, pits palmares, hipertelorismo, quistes de millium y quistes odontogénicos, con lo que se llega al diagnóstico de síndrome de Gorlin. Se realiza seguimiento durante 13 años identificándose y confirmándose histopatológicamente 14 nevus basocelulares nodulares infiltrantes. DISCUSIÓN: El síndrome de Gorlin tiene una prevalencia estimada en 1/57.000 habitantes. Posee penetrancia variable por lo que no todos los pacientes tienen el antecedente familiar. Para su diagnóstico se han definido criterios mayores, de los cuales la paciente cumple cuatro: carcinomas basocelulares múltiples, quistes odontogénicos, pits palmares y calcificación de la hoz del cerebro; y criterios menores. El tratamiento de los carcinomas basocelulares múltiples essimilar al de las lesiones aisladas, sin embargo, por tratarse de una enfermedad multisistémica es necesario un manejo multidisciplinario de las alteraciones esqueléticas, odontológicas, neurológicas y genitourinarias. Asimismo, se debe enfatizar en la fotoprotección y educación del paciente para la detección de lesiones cutáneas sospechosas.


INTRODUCTION: Gorlin syndrome or nevoid basal cell carcinoma syndrome is a hereditary autosomal dominant condition characterized by developmental anomalies and predisposition to multiple basal cell carcinomas, which are the most worrying aspects of the disease. Despite its low prevalence and specialized management, it is important for general physicians to be able to identify and refer suspicious lesions of basal cell carcinoma.CASE REPORT: A 28 year-old female, without relevant medical history, presented with two facial basal cell carcinomas histologically confirmed. Physical examination evidenced frontal bossing, a broad nasal root, hypertelorism, millia and odontogeniccysts, which comprise the diagnosis of Gorlin syndrome. 13-year follow-up identified 14 infiltrating nodular basal cell carcinomas. DISCUSSION: Gorlin syndrome has an estimated prevalence of 1 per 57.000 people. It has variable penetrance, therefore not all patients have a compatible family history. Major criteria have been established for its diagnosis, from which our patient fulfills four of them: multiple basal cell carcinomas, odontogenic cysts, palmar pits and calcification of the falx cerebri; and several minor criteria. Treatment of multiple basal cell carcinomas is similar to isolated lesions, however, as a multisystemic disease requires a multidisciplinary management of skeletal disorders, dental, neurological and genitourinary manifestations. Photoprotection and patient education for detection of suspicious skin lesions should be emphasized.


Assuntos
Humanos , Adulto , Feminino , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/patologia , Neoplasias Encefálicas , Calcinose , Hipertelorismo , Cistos Odontogênicos , Neoplasias Cutâneas
17.
Journal of Family and Reproductive Health. 2013; 7 (1): 45-47
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-127214

RESUMO

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest


Assuntos
Humanos , Feminino , Hipertelorismo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Consanguinidade , Recém-Nascido
18.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-120450

RESUMO

LEOPARD syndrome is an autosomal dominant inherited disease with multiple congenital anomalies. LEOPARD is an acronym for Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. The disorder is caused by mutations in the PTPN11 gene or RAF1 gene. Here we report two typical cases of LEOPARD syndrome with lentigines, electrocardiograph abnormality, ocular hypertelorism which were proven to be the results of genetic mutations. Moreover, one 12-year-old boy showed growth retardation, deficiency in testosterone; the other 5-year-old girl had undergone implantation of a cochlear device and was diagnosed as having hypertrophic cardiomyopathy which has been managed with a beta blocker. Each patient showed a PTPN11 gene mutation: Thr468Met in exon 12 and Tyr279Cys in exon 7, respectively.


Assuntos
Cardiomiopatia Hipertrófica , Surdez , Eletrocardiografia , Éxons , Genitália , Humanos , Hipertelorismo , Lentigo , Síndrome LEOPARD , Panthera , Estenose da Valva Pulmonar
19.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-45906
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-83941

RESUMO

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.


Assuntos
Aneurisma , Artérias , Fissura Palatina , Doenças do Tecido Conjuntivo , Constrição Patológica , Cefaleia , Hipertelorismo , Instabilidade Articular , Síndrome de Loeys-Dietz , Dermatopatias Genéticas , Úvula , Malformações Vasculares
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