Chronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.

Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), present diagnostic challenges due to their multifactorial origins and remain poorly understood from biomechanical and genomic-molecular perspectives. Recent diagnostic guidelines have differentiated hEDS, HSD, and benign joint hypermobility, providing a more objective diagnostic framework. However, incorrect diagnoses and underdiagnoses persist, leading to prolonged journeys for affected individuals. Musculoskeletal manifestations, chronic pain, dysautonomia, and gastrointestinal symptoms illustrate the multifactorial impact of these conditions, affecting both the physical and emotional well-being of affected individuals. Infrared thermography (IRT) emerges as a promising tool for joint assessment, especially in detecting inflammatory processes. Thermal distribution patterns offer valuable insights into joint dysfunctions, although the direct correlation between pain and inflammation remains challenging. The prevalence of neuropathies among hypermobile individuals accentuates the discordance between pain perception and thermographic findings, further complicating diagnosis and management. Despite its potential, the clinical integration of IRT faces challenges, with conflicting evidence hindering its adoption. However, studies demonstrate objective temperature disparities between healthy and diseased joints, especially under dynamic thermography, suggesting its potential utility in clinical practice. Future research focused on refining diagnostic criteria and elucidating the underlying mechanisms of hypermobility syndromes will be essential to improve diagnostic accuracy and enhance patient care in this complex and multidimensional context.

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. / Sindrome de Ehlers-Danlos dfoescoliotico-FKBP14 en una paciente adolescente: primer reporte de caso colombiano.

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous inherited connective tissue disorders, characterized by skin hyperextensibility, poor wound healing, joint hypermobility and tissue friability. Since 1997 a new spectrum of novel rare EDS-variants has been described, among which is included the EDS kyphoscoliotic type, characterized by severe muscular hypotonia at birth, severe progressive kyphoscoliosis, osteopenia, fragile eyeballs and vascular fragility. This EDS variant is caused by mutations in the PLOD1 gene; however, a rare recessive variant that compromises the FKBP14 gene has been reported, with additional clinical findings that includes gross motor developmental delay, myopathy, hearing impairment and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline in urine. We report the first Colombian patient with a FKBP14 c.362dupC mutation, with clinical features that include generalized hypotonia, delayed gross motor milestones, hearing loss, early-onset progressive kyphoscoliosis, joint hypermobility and foot deformities.

El síndrome de Ehlers-Danlos es un conjunto de trastornos hereditarios del tejido conectivo, clínica y genéticamente heterogéneos, caracterizados por hiperextensibilidad cutánea, pobre cicatrización, hipermovilidad articular y friabilidad tisular. Desde 1997, se han reportado variantes poco frecuentes del síndrome, entre las cuales se incluye el de tipo cifoescoliótico, causado por mutaciones en el gen PLOD1, caracterizado por hipotonía muscular grave al nacer, cifoescoliosis grave progresiva, osteopenia, ojos frágiles y fragilidad vascular. También ha sido descrita una rara variante recesiva que compromete el gen FKBP14, con hallazgos clínicos adicionales, que incluyen retardo del desarrollo psicomotor, miopatía, hipoacusia y una proporción normal de lisil-piridinolina a hidroxilisil-piridinolina en la orina. Se presenta el primer caso de una paciente colombiana con una mutación FKBP14 c.362dupC, caracterizada por hipotonía generalizada, retardo en el desarrollo de los hitos motores gruesos, hipoacusia, cifoescoliosis progresiva temprana, hipermovilidad articular y deformidades en los pies.

Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.

Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive

Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.

Cuando sospechar el síndrome de Ehlers-Danlos tipo III, también llamadosindrome de Ehlers-Danlos hipermovible / When to suspect Ehlers-Danlos type III, also known as hypermobile Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome type III is a very frequent disease, with dominant inheritance, that usually goes undiagnosed, due to lack of knowledge of the disease by physicians. In this article we discuss in detail clinical signs and symptoms that will enable doctors to suspect the diagnosis...

El síndrome de Ehlers-Danlos tipo III es una enfermedad hereditaria dominante, muy frecuente, que generalmente no es diagnosticada, debido a falta de conocimiento del tema por parte de los médicos. En este artículo se revisan, en detalle, los signos y síntomas clínicos de la enfermedad con el fin de ayudar al médico a sospechar el diagnóstico...

Connective tissue diseases: pseudoxanthoma elasticum, anetoderma, and Ehlers-Danlos syndrome in pregnancy.

The relationship between pregnancy and diseases of the elastic fibers, such as pseudoxanthoma elasticum, cutis laxa, and anetoderma, is discussed in this article. Dermatologists and other physicians must be aware that these problems may be present in pregnant women and must also know how to counsel those who suffer from these diseases because they can have severe manifestations and consequences during or after this period for both the pregnant mother and her offspring.

Síndrome de Ehlers-Danlos, a propósito de un caso de difícil clasificación / Ehlers-Danlos syndrome, about a hardly classifiable case

El síndrome de Ehlers-Danlos comprende un grupo de entidades con anormalidades en la estructura, síntesis o procesamiento de la colágena. Sus manifestaciones clínicas, alteraciones genéticas y anomalías bioquímicas, han permitido clasificar diez formas clínicas de la enfermedad. Hay casos que no es posible clasificar en los grupos descritos, como el caso que se reporta, con manifestaciones graves de la enfermedad. Las manifestacione más frecuentes son en piel, sistema osteoarticular, tracto gastrointestinal, aparato cardiovascular y ojos

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.

We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.

[Cardiovascular abnormalities in Ehlers-Danlos syndrome. Report of a case]. / Anormalidades cardiovasculares en el síndrome de Ehlers-Danlos. Informe de un caso.

This is the case of a 34-year-old woman with Ehlers-Danlos syndrome whose cardiopulmonary manifestations are the following: Prolapse of mitral and tricuspid valves. Aneurysmal dilatation of main arteries without aortic or pulmonary insufficiency. Disturbances in pulmonary function tests and pulmonary arterial hypertension. The diagnosis was verified by skin biopsy and an electron microscopic study. Due to the clinical and histopathological characteristics, we have considered this case to be a non-specified type of the 10 varieties described up to now, and have decided to report it also because of the interesting findings in the hemodynamic and pulmonary function tests.