Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura / Suspected vascular ehlers danlos syndrome: case report

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Periodontitis in marfan syndrome: a case report

A Síndrome de Marfan é uma doença autossômica dominante do tecido conjuntivo, caracterizada por alterações nos sistemas cardiovascular, esquelético e ocular, e que pode aumentar a suscetibilidade à doença periodontal. Esse relato de caso descreve dados periodontais clínicos, microbiológicos e imunológicos de um paciente de 28 anos, gênero masculino, com diagnóstico clínico de Síndrome de Marfan. Neste caso, as principais alterações estão nos sistemas esquelético e ocular. A principal alteração intraoral é a presença de palato profundo e prognatismo mandibular. No exame clínico periodontal, a média do nível clínico de inserção foi de 2,35 mm e índice de sangramento à sondagem de 30%. O tratamento periodontal foi executado em uma sessão de debridamento e orientação de higiene oral, sob antibioticoterapia profilática. Na reavaliação, o paciente apresentou melhora nos parâmetros clínicos periodontais. O relato de caso apresenta um paciente com alterações leves, que afetam a saúde bucal. Em casos de Síndrome de Marfan, a manutenção da saúde periodontal é essencial para um bom prognóstico da saúde bucal.(AU)

Marfan syndrome is an autossomal dominant disorder of connective tissue characterized by alteration in cardiovascular, skeletal and ocular system, and may increase the susceptibility of periodontal disease. This case report describes the clinical, microbiological and immunological periodontal findings in a 28 year old male patient with a clinical diagnosis of Marfan syndrome. The major alterations of the case were in ocular and skeletal system. The major oral alterations were the high arched and narrow palate, and mandibular prognathism. At periodontal examination, an average clinical attachment level loss of 2.35 mm and 30% of bleeding on probing were found. The periodontal treatment was performed, in one session of periodontal debridement with prophylactic antibiotic premedication and oral hygiene instructions. At the revaluation, the patient showed improved clinical parameters. This case report presented a patient with mild features of a genetic disorder which affects oral health. The maintenance of periodontal health in Marfan syndrome cases is essential for a favorable prognosis of oral health.(AU)

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.

Novedades moleculares y clínicas de las colágenas / New molecular and clinical aspects of collagens

La colágena es una de las proteínas más abundantes del organismo. Junto con los otros componentes de la matriz extracelular (glucoproteínas no colagenosas, proteoglicanos, lamininas, fibronectinas, tromboespondinas, enectina y tenascina) promueve la adhesión celular, activa vías de señales intracelulares, y regula las actividades de varios factores de crecimiento y de otas proteínas. Durante los últimos 20 años se han identificado por lo menos 19 tipos de colágenas genéticamente diferentes, codificadas por más de 30 genes. En esta primera parte revisamos algunos aspectos novedosos sobre colágenas fibrilares, las formadoras de láminas, las que forman estructuras tipo abalorio, y las multiplexinas. Cuando fue posible correlacionamos las anormalidades de estas proteínas colagenosas con la enfermedad resultante