Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.

Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.

Extent of and Reasons for Discontinuation and Nonpublication of Interventional Trials on Connective Tissue Diseases: An Observational Study.

OBJECTIVE: To assess the proportion, the reasons, and the factors associated with the discontinuation or nonpublication of randomized controlled trials (RCTs) on connective tissue diseases (CTDs). METHODS: We searched all interventional RCTs on CTDs registered in ClinicalTrials.gov since 2000. Two reviewers selected studies according to prespecified eligibility criteria. Completion status, publication status, and reported reasons for discontinuation or nonpublication were retrieved on ClinicalTrials.gov, through literature search, and by contacting investigators. Multivariable logistic regression was used to identify factors associated with study noncompletion and nonpublication. RESULTS: We included 175 studies, mostly phase III, placebo-controlled trials on pharmacologic treatments recruiting patients with systemic lupus erythematosus (51%), systemic sclerosis (20%), Sjögren's syndrome (12%), or other CTDs. Fifty-eight (33%) had been discontinued, mainly for insufficient patient accrual, with no differences in discontinuation rates across the CTDs (P > 0.5). Forty-six (35%) of 130 studies having included at least 1 patient were unpublished, and 86 (65%) were published in a peer-reviewed journal after a median of 24 months (interquartile range 15-41) from completion, with a significantly higher publication rate in completed versus discontinued studies (81% versus 22%; P < 0.001). We were able to obtain reasons for nonpublication in one-third of cases. Small sample size (<100 participants) was the only factor associated with study noncompletion and nonpublication. CONCLUSION: One of 3 registered RCTs on CTDs fails to be completed or published. This represents a waste of resources and raises ethical concerns regarding hidden clinical data and unfruitful participation by patients.

Hipertensión de la arteria pulmonar y enfermedades autoinmunes del tejido conectivo: revisión de la literatura / Pulmonary arterial hypertension and autoimmune connective tissue diseases: literature review

La hipertensión de la arteria pulmonar es una grave complicación que pueden presentar los pacientes con enfermedades autoinmunes del tejido conectivo Exis-ten distintas prevalencias reportadas según cada país. Por otro lado, la sobrevida de estos pacientes reportada al año y a los tres años, va desde 70-82% y 47-53% respectivamente dependiendo de cual es la enfermedad del tejido conectivo aso-ciada. En los últimos años se ha avanzado en la precocidad del diagnóstico y han aparecido nuevas terapias que han demostrado mejores resultados. Sin embargo, la respuesta al tratamiento sigue siendo mejor en pacientes con hipertensión pul-monar idiopática que en aquellas asociadas a enfermedad de tejido conectivo.

Pulmonary artery hypertension is a serious complication that may occur in pa-tients with autoimmune diseases of the connective tissue. There are different prevalence reported by country. On the other hand, the survival of these patients reported at one year and three years, going from 70-82% and 47-53% respec-tively, depending on which is the associated connective tissue disease. In recent years it has made progress in the precocity of diagnosis and new therapies have appearedthat have shown better results. However, the response to treatment is still better in patients with idiopathic pulmonary hypertension than in those associated with connective tissue disease.

Enfermedades del tejido conectivo: importancia del diagnóstico precoz / Connective tissue diseases: importance of early diagnosis

Las Enfermedades del Tejido Conectivo (ETC) son entidades de baja prevalencia en la población general. Son de naturaleza inflamatoria y autoinmune, tienden a la cronicidad y al compromiso de muchos parénquimas, órganos y tejidos, dejando en ellos daño estructural y funcional. Dado lo anterior, amenazan la vida o disminuyen la expectativa y calidad de vida. El diagnóstico y tratamiento precoz de estas entidades, permite cambiar su curso y muchas veces lograr remisión. Es por lo tanto de suma importancia tenerlas en mente y sospecharlas como entidades de enfermedad e iniciar un tratamiento oportuno.

Connective Tissue Diseases have a low prevalence in the general population. They are inflammatory autoimmune diseases, chronic in nature and compromise different tissues and organs, leaving permanent and irreversible damage. They threaten live, and diminish quality and expectancy of life. Early diagnosis and treatment can change their natural course and in many cases induce remission. A high suspicion is necessary for a prompt diagnosis.

Acquired disorders of elastic tissue: Part II. Decreased elastic tissue

Elastic fibers in the extracellular matrix are integral components of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin are attributable to the network of elastic tissue. Advances in our understanding of elastic tissue physiology provide a foundation for studyng the pathogenesis of elastic tissue disorders. Many acquired disorders are in which loss of dermal elastic tissue produces prominent clinical and histopathologic features have recently been described, including middermal elastolysis, papular elastorrhexis, and pseudoxanthoma-like papillary dermal elastolysis, which must be differentiated from more well-known disorders such as anetoderma, acquired cutis laxa, and acrokeratoelastoidosis.

Acquired disorders of elastic tissue: Part I. Increased elastic tissue and solar elastotic syndromes

Elastic fibers in the extracellular matrix are an integral component of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin may be attributed to the network of elastic tissue. Advances in our understanding of elestic tissue physiology provide a foundation for studyng the pathogenesis of elastic tissue disorders. Many acquired disorders are nevertheless poorly understood due to the paucity of reported cases. Several acquired disorders in which accumulation or elastotic degeneration of dermal elastic fibers produces prominent clinical and histopathologic features have recenthy been described. They include elasdoterma, linear focal elastosis, and late-onset focal dermal elastosis and must be differentiated from better-known disorders, among them acquired pseudoxanthoma elasticum, elastosis perforans serpiginosa, and Favré-Racouchot syndrome.

[Fournier's disease]. / Enfermedad de Fournier.

Fournier's disease or perineal gangrene is a severe necrotizing process affecting the ano-rectal, perineal and scrotal region which is usually secondary to ano-rectal pathology and periurethral or cutaneous processes. Ample surgical debridement, wide spectrum systemic antibiotics and general supportive measures are essential for survival in this very serious disease.