RESUMO
Introducción: El síndrome de Ehlers Danlos tipo III o síndrome de hiperlaxitud articular benigna, consiste en una alteración genética del colágeno tipo III/I con un patrón de herencia autosómico dominante, caracterizado por la presencia de articulaciones con una amplitud de movilidad incrementada y síntomas musculoesqueléticos y extraesqueléticos. Objetivo: Valorar la importancia de la aplicación del método clínico para el diagnóstico del Síndrome de Ehlers Danlos tipo III. Caso clínico: Se presenta el caso de un adolescente masculino de 15 años de edad con diagnóstico clínico reciente del Síndrome de Ehlers Danlos tipo III. Conclusiones: Para lograr un diagnóstico certero del síndrome de Ehlers Danlos tipo III es imprescindible aplicar con ciencia y conciencia el método clínico(AU)
Introduction: Ehlers-Danlos syndrome type III or benign joint hyperlaxity syndrome consists in a genetic alteration of collagen type III/I with a dominant autosomal inheritance pattern, characterized by the presence of joints with increased range of motion, as well as musculoskeletal and extraskeletal symptoms. Objective: To assess the importance of applying the clinical method for the diagnosis of Ehlers-Danlos syndrome type III. Clinical case: The case is presented of a 15-year-old male adolescent with a recent clinical diagnosis of Ehlers-Danlos syndrome type III. Conclusions: In order to achieve an accurate diagnosis of Ehlers-Danlos syndrome type III, it is essential to apply the clinical method scientifically and conscientiously(AU)
Assuntos
Humanos , Masculino , Adolescente , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologiaRESUMO
CONTEXT: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. OBJECTIVE: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype in a large cohort of Argentine congenital adrenal hyperplasia (CAH) patients to assess the prevalence of this condition in our population. METHODS: TNXB gene analysis was performed in 66 nonrelated CAH patients that were carriers of the CYP21A2 gene deletion. A molecular strategy based on multiplex ligation-dependent probe amplification and Sanger sequencing analysis was developed allowing for the detection of different, previously described TNXA/TNXB chimeras, named CH1, CH2, and CH3. The main outcome measures were TNXB status of CAH patients that were carriers of the CYP21A2 deletion in the homozygous or heterozygous state. RESULTS: TNXA/TNXB CH1 was found in 41%, CH2 in 29%, and CH3 in 1% of nonrelated alleles carrying the CYP21A2 deletion. Thus, overall 71% of alleles were found to carry a contiguous gene deletion. Sixty-seven percent of patients analyzed had a monoallelic form and 6% a biallelic form. All patients with the biallelic form had severe skin hyperextensibility and generalized joint hypermobility. CONCLUSION: Based on the high frequency of TNXB alterations found in CYP21A2 deletion carrier alleles, we recommend evaluating TNXB status in these patients, and assessing connective tissue dysplasia, including cardiologic alterations in positive cases. The number of patients undergoing cardiological evaluation should be expanded to determine the incidence of structural and functional abnormalities in this cohort.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Quimera/genética , Síndrome de Ehlers-Danlos/epidemiologia , Tenascina/genética , Adolescente , Adulto , Argentina/epidemiologia , Criança , Pré-Escolar , Síndrome de Ehlers-Danlos/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Prevalência , Esteroide 21-Hidroxilase/genética , Adulto JovemRESUMO
Cutaneous asthenia (CA) or Ehlers-Danlos Syndrome, in dogs, is a rare hereditary syndrome caused by autosomal dominant inheritance that causes collagen synthesis failure and leads to hyperextensibility and cutaneous fragility. This report describes a clinical case of canine CA of hereditary recessive origin, hitherto proven for other species, in an animal born from inbreeding healthy parents. A one-year-old female Maltese dog received clinical and surgical care for a cutaneous wound after a hygienic bath. The clinical history revealed the occurrence of other injuries that were caused by minor trauma and the consanguinity of the patient. During wound cleaning, the trichotomy and removal of an adhesive tape that was fixed to the skin generated new lacerations, which led to clinical suspicion of CA. CA was confirmed by calculating the cutaneous extensibility index (CEI), which was 22%, higher than the normal limit for the species (14.5%). The skin biopsy confirmed the clinical diagnosis, and the wound of the animal was treated routinely and healed clinically. Both dominant and recessive patterns have been well documented in cats; however, in dogs, only the dominant form has been reported in the literature. Our findings demonstrate that canine CA may result from autosomal recessive inheritance, and CA must be considered during diagnostic clinical approaches and breeding selections.(AU)
A astenia cutânea (CA) ou Síndrome de Ehlers-Danlos, em cães, é uma síndrome hereditária rara, causada por gene autossômico dominante que resulta em falha na síntese de colágeno levando à hiperextensibilidade e à fragilidade cutâneas. O objetivo deste trabalho é relatar a existência de astenia cutânea canina de origem hereditária recessiva, até agora comprovada para outras espécies, a partir da descrição de um caso clínico de CA em um animal nascido de união consanguínea de pais saudáveis. Uma cadela Maltês, com um ano de idade, recebeu atendimento clínico-cirúrgico por apresentar uma ferida cutânea após um banho higiênico. A história clínica revelou a ocorrência de outros ferimentos provocados por pequenos traumas e a origem consanguínea da paciente. Durante a limpeza da ferida, a tricotomia e a remoção de uma fita adesiva fixada à pele geraram novas lacerações levantando à suspeita clínica de astenia cutânea, confirmada pelo cálculo do índice de extensibilidade cutânea (CEI) que resultou em 22%, valor superior ao limítrofe de normalidade para a espécie (14,5%). A biopsia cutânea confirmou o diagnóstico clínico. A ferida do animal foi tratada rotineiramente resultando em cura clínica. Tanto as formas dominante e recessiva foram bem documentadas em gatos; entretanto, em cães, somente a forma dominante havia sido descrita pela literatura. Concluiu-se que a astenia cutânea canina pode advir de herança autossômica recessiva e isto deve ser considerado durante a abordagem clínica visando o diagnóstico e a seleção racial.(AU)
Assuntos
Animais , Cães , Astenia/veterinária , Síndrome de Ehlers-Danlos/veterinária , Síndrome de Ehlers-Danlos/epidemiologiaRESUMO
Cutaneous asthenia (CA) or Ehlers-Danlos Syndrome, in dogs, is a rare hereditary syndrome caused by autosomal dominant inheritance that causes collagen synthesis failure and leads to hyperextensibility and cutaneous fragility. This report describes a clinical case of canine CA of hereditary recessive origin, hitherto proven for other species, in an animal born from inbreeding healthy parents. A one-year-old female Maltese dog received clinical and surgical care for a cutaneous wound after a hygienic bath. The clinical history revealed the occurrence of other injuries that were caused by minor trauma and the consanguinity of the patient. During wound cleaning, the trichotomy and removal of an adhesive tape that was fixed to the skin generated new lacerations, which led to clinical suspicion of CA. CA was confirmed by calculating the cutaneous extensibility index (CEI), which was 22%, higher than the normal limit for the species (14.5%). The skin biopsy confirmed the clinical diagnosis, and the wound of the animal was treated routinely and healed clinically. Both dominant and recessive patterns have been well documented in cats; however, in dogs, only the dominant form has been reported in the literature. Our findings demonstrate that canine CA may result from autosomal recessive inheritance, and CA must be considered during diagnostic clinical approaches and breeding selections.
A astenia cutânea (CA) ou Síndrome de Ehlers-Danlos, em cães, é uma síndrome hereditária rara, causada por gene autossômico dominante que resulta em falha na síntese de colágeno levando à hiperextensibilidade e à fragilidade cutâneas. O objetivo deste trabalho é relatar a existência de astenia cutânea canina de origem hereditária recessiva, até agora comprovada para outras espécies, a partir da descrição de um caso clínico de CA em um animal nascido de união consanguínea de pais saudáveis. Uma cadela Maltês, com um ano de idade, recebeu atendimento clínico-cirúrgico por apresentar uma ferida cutânea após um banho higiênico. A história clínica revelou a ocorrência de outros ferimentos provocados por pequenos traumas e a origem consanguínea da paciente. Durante a limpeza da ferida, a tricotomia e a remoção de uma fita adesiva fixada à pele geraram novas lacerações levantando à suspeita clínica de astenia cutânea, confirmada pelo cálculo do índice de extensibilidade cutânea (CEI) que resultou em 22%, valor superior ao limítrofe de normalidade para a espécie (14,5%). A biopsia cutânea confirmou o diagnóstico clínico. A ferida do animal foi tratada rotineiramente resultando em cura clínica. Tanto as formas dominante e recessiva foram bem documentadas em gatos; entretanto, em cães, somente a forma dominante havia sido descrita pela literatura. Concluiu-se que a astenia cutânea canina pode advir de herança autossômica recessiva e isto deve ser considerado durante a abordagem clínica visando o diagnóstico e a seleção racial.
Assuntos
Animais , Cães , Astenia/veterinária , Síndrome de Ehlers-Danlos/epidemiologia , Síndrome de Ehlers-Danlos/veterináriaRESUMO
Antiviral therapy in patients suffering from chronic hepatitis C virus (HCV) infection and rare comorbidities cannot be easily started, as it can reduce the likelihood of a good therapeutic response with an increased frequency of side effects. We report two patients presenting unusual comorbidities associated with chronic C hepatitis: one with the Ehlers-Danlos Syndrome (EDS), a rare genetic disease caused by a defect in collagen synthesis, the other one with the Charcot Marie Tooth (CMT) disease, an uncommon but severe form of demyelinating peripheral neuropathy. Both patients were successfully treated with pegylated Interferon (Peg-IFN) and ribavirin (RBV) combined therapy, with the achievement of a sustained viral response (SVR) and a low occurrence of adverse effects. Up to now there are no reports of patients suffering from chronic C hepatitis associated with these uncommon but severe comorbidities treated with antiviral therapy. In conclusion, in such clinical situations, anti-HCV therapy may be started and tailored, especially if the patient is highly motivated and if optimal predictors of response (i.e. young age, favourable genotype and low baseline viraemia) do exist.
Assuntos
Antivirais/uso terapêutico , Doença de Charcot-Marie-Tooth/epidemiologia , Síndrome de Ehlers-Danlos/epidemiologia , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/epidemiologia , Adulto , Comorbidade , Quimioterapia Combinada , Humanos , Interferon-alfa/uso terapêutico , Masculino , Polietilenoglicóis/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Ribavirina/uso terapêutico , Resultado do TratamentoRESUMO
OBJECTIVES: To delineate the prevalence of cardiac findings in hypermobile and classic Ehlers-Danlos syndrome and provide longitudinal analysis of aortic root growth. STUDY DESIGN: A retrospective chart review was conducted, and data were analyzed for cross-sectional prevalence of aortic dilation and valvular anomalies. The clinical implications of aortic root growth were determined by assessment of progression of aortic root measurements over time and clinical symptoms. RESULTS: Patients whose first echocardiogram was obtained in late childhood or adulthood were less likely to have aortic dilation (P < .002) than those whose first echocardiogram was obtained in early childhood. Longitudinally, seven individuals had dilated aortas before age 14, and only one individual continued to show dilation after age 14 (P = .0143). No patient with a normal aortic root in childhood had development of dilation in adulthood. Fifteen of the 252 patients (6.0%) had mitral valve prolapse (MVP), although only one patient (0.4%) had MVP that was mild to moderate. CONCLUSIONS: Although aortic root size and MVP are increased in patients with these types of Ehlers-Danlos syndrome, they tend to be of little clinical consequence. Echocardiography may still be warranted as part of cardiovascular assessment, but decreased frequency of screening is recommended especially in symptom-free adults.
Assuntos
Aorta Torácica/diagnóstico por imagem , Síndrome de Ehlers-Danlos/complicações , Prolapso da Valva Mitral/complicações , Valva Mitral/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Dilatação Patológica , Ecocardiografia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Prolapso da Valva Mitral/diagnóstico , Prolapso da Valva Mitral/epidemiologia , Ohio/epidemiologia , Prevalência , Prognóstico , Adulto JovemRESUMO
Introducción. El comportamiento del síndrome de Ehlers Danlos hizo que se interpretara como un subregistro clínico, poco conocido y con escasas referencias. Esta genodermatosis generalmente está condenada a no tener un tratamiento específico. El objetivo del presente estudio fue, principalmente, describir la morbilidad de este síndrome, desde el punto de vista ortopédico. Métodos. Se realizó un estudio descriptivo prospectivo de 5 años, que incluyó a todos los pacientes con síndrome de Ehlers Danlos, atendidos en la consulta de ortopedia y traumatología entre julio de 2001 y julio del 2006, en el Hospital Pediátrico Docente José Martí (Sancti Spiritus, Cuba). Se consideró un tiempo mínimo de seguimiento de 6 meses para la validación de los resultados. Resultados. Fueron estudiados 41 pacientes afectos de 72 enfermedades de origen ortopédico. La frecuencia estuvo próxima a 1,7 enfermedades por paciente, con predominio no significativo del sexo femenino (n = 24). Uno de los antecedentes perinatales más importantes fue la presencia de grados diversos de displasia de la cadera. La presencia de otras afecciones no ortopédicas no fue significativa. Los principales hallazgos ortopédicos fueron el pie plano flexible (37), el genus recurvatum (11) y la cifoescoliosis (9). La cirugía estética y la cirugía correctora ortopédica fueron las más utilizadas. Conclusiones. La dispensarización de esta enfermedad y su tratamiento oportuno es un método de control eficaz que ayudaría a evitar la degeneración articular, generalmente antesala de la osteoartrosis.
Introduction. The behavior of Ehlers Danlos syndrome caused it to be interpreted as a clinical subregister, little known, and with a few references. This genodermatosis is generally condemned not to have a specific treatment. The objective of this study was mainly to describe the morbidity of this syndrome from the orthopedic point of view. Methods. A 5-year prospective and descriptive study was conducted among all the patients with Ehlers Danlos syndrome that were seen at the Orthopedics and Traumatology department of José Martí Teaching Pediatric Hospital (Sancti Spiritus, Cuba) from July 2001 to July 2006. A minimum follow-up time of 6 months was considered for the validation of the results. Results. 41 patients affected with 72 diseases of orthopedic origin were studied. The frequency was approximately 1.7 diseases per patient, with a non significant predominance of females (n = 24). One of the most important perinatal antecedents was the presence of diverse hip dysplasia degrees. The presence of other non-orthopedic affections was not remarkable. The main orthopedic findings were the flexible flat foot (37), the genus recurvatum (11) and kyphoscoliosis (9). Aesthetic surgery and the corrective orthopedic surgery were the most used. Conclusions. The categorization of this disease and its timely treatment is an efficient method of control that would help to prevent the articular degeneration that generally precedes osteoarthritis.
Assuntos
Humanos , Criança , Adolescente , Síndrome de Ehlers-Danlos/epidemiologia , Epidemiologia Descritiva , Estudos ProspectivosRESUMO
OBJECTIVE: To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). METHODS: Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. RESULTS: The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). CONCLUSION: JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.
Assuntos
Síndrome de Ehlers-Danlos/genética , Fácies , Instabilidade Articular/genética , Articulações/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Chile/epidemiologia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Feminino , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/epidemiologia , Articulações/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Transtornos da Pigmentação/patologia , Esclera/anormalidades , SíndromeRESUMO
A síndrome de Ehlers-Danlos é doença do tecido conjuntivo cuja associação com a gestação é extremamente rara, mas com complicações potencialmente fatais no ciclo gravídico-puerperal, como roturas vasculares e intestinais. Pode estar associada a dor e frouxidão articular na mulher; quanto às alterações gestacionais, há risco maior de prematuridade, secundária a rotura prematura de membranas e/ou insuficiência cervical. Roturas e inversões uterinas também podem estar associadas a esta síndrome. Neste artigo, descrevemos o caso de uma grávida de 23 anos, com síndrome de Ehlers-Danlos tipo III, com evolução pré-natal favorável, sem complicações fetais e bom resultado perinatal.