Ritidoplastia em paciente de 11 anos como tratamento auxiliar da elastólise pós-inflamatória (cutis laxa) - desafios no tratamento / Rhytidoplasty in an 11 - year - old patient as adjuvant treatment for post inflammatory elastolysis and cutis laxa - challenges in the treatment

Cutis laxa is a rare morbidity, is caracterized as a connective tissue disorder manifested primarily by sagging cut and may affect other organs. The authors report a case of cutis laxa in a patient of 11 years old with the development of a senile fascia with pronounced ritidose perioral, periocular and nasolabial sulcus. Rhytidectomy was performed as an auxiliary treatment. The patient showed a good evolution of the postoperative scars with good quality and remarkable improvement in sagging of the midface and later recurrence of the same part in the follow-up evaluation two years. Patient and family were very pleased with the outcome. The surgical team, however, realized the limitation of the procedure and the need for additional treatment with auxiliaries and the like as peeling...

Cútis laxa é uma morbidade rara, caracterizada por ser uma desordem do tecido conjuntivo que se manifesta principalmente por flacidez cutânea, podendo acometer variavelmente outros órgãos. Os autores relatamum caso de cútis laxa em paciente de 11 anos que desenvolveu face senil com pronunciada ritidose perioral e periocular, bem como acentuação dos sulcos nasogenianos. Foi realizada ritidoplastia como tratamento cirúrgico. Apresentou boa evolução pós-operatória, com cicatrizes de boa qualidade e melhora notável na flacidez do terço médio da face e, posteriormente, recorrência parcial da mesma no acompanhamento tardio de dois anos. Paciente e familiares ficaram muito satisfeitos com o resultado. A equipe cirúrgica, entretanto, percebeu limitação do resultado cirúrgico e necessidade de complementação com tratamentos auxiliares como peelings e similares...

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

Mesenchymal stem cells for the treatment of systemic lupus erythematosus: is the cure for connective tissue diseases within connective tissue?

Mesenchymal stem cells (MSCs) are now known to display not only adult stem cell multipotency but also robust anti-inflammatory and regenerative properties. After widespread in vitro and in vivo preclinical testing in several autoimmune disease models, allogenic MSCs have been successfully applied in patients with severe treatment-refractory systemic lupus erythematosus. The impressive results of these uncontrolled phase I and II trials - mostly in patients with non-responding renal disease - point to the need to perform controlled multicentric trials. In addition, they suggest that there is much to be learned from the basic and clinical science of MSCs in order to reap the full potential of these multifaceted progenitor cells in the treatment of autoimmune diseases.

[Bilateral orbital fat prolapse associated with pterygium: case report]. / Prolapso de gordura orbitária bilateral associado a pterígio: relato de caso.

Orbital fat prolapse is an uncommon benign entity that can cause esthetic defects. The authors present a 63-year-old patient with bilateral temporal orbital fat prolapse associated with a bilateral nasal pterygium. Clinical and surgical features are described. The clinical, imaging and histopathological diagnoses are discussed.

Spontaneous and simultaneous bilateral rupture of the quadriceps tendon in a patient with osteogenesis imperfecta: a case report.

Bilateral rupture of the quadriceps tendon is an uncommon and serious injury that usually occurs in middle aged to elderly patients. It is frequently associated with chronic metabolic disorders like diabetes, hyperparathyroidism, gout, chronic renal failure or the chronic use of steroids. We report a case of spontaneous bilateral rupture of the quadriceps tendon in a patient with osteogenesis imperfecta.

The association of myasthenia gravis and connective tissue diseases. Effects of thymectomy in six cases with rheumatoid arthritis and one case with systemic lupus erythematosus.

OBJECTIVES: To describe the effects of thymectomy in a group of patients with myasthenia gravis (MG) with associated connective tissue diseases (CTD). PATIENTS AND METHODS: We analyzed six patients with CTD and myasthenia. They were followed-up for at least 3 years. RESULTS: Records of a cohort of 132 patients with established diagnosis of MG undergoing thymectomy in our institution between 1987-1999 were reviewed. The percentage of patients with CTD was 5 % (6/132). Five patients had rheumatoid arthritis (RA) and one patient systemic lupus erythematosus (SLE). All patients were women, and the mean age was 38.5 years old (SD 13.7). Mean time of MG diagnosis to operation was 16 months (range from 1 to 144 months). Preoperative Osserman classification was the following: stage IIb, four patients; stage III, one patient; and stage IV, one patient. Before surgery all patients were on anticholinesterase agent (pyridostigmine), and four patients were on corticosteroids. An extended transsternal thymectomy was practiced on five patients and a transcervical thymectomy was performed in the remaining patient. Pathologic findings were as follows: thymic hyperplasia in four patients and thymic atrophy in the other two. Good response (remission or improvement) was present in three patients (50 %) and poor response (no change or worse) in the other three (50 %). CONCLUSIONS: A low response to the thymectomy is observed in patients with MG and associated CTD (RA and an SLE).