Recurrence of progressive skin involvement following discontinuation or dose reduction of Mycophenolate Mofetil treatment in patients with diffuse Systemic Sclerosis.

BACKGROUND: Rapidly progressive diffuse cutaneous Systemic Sclerosis (rp-dcSSc) is associated with severe internal organ involvement and high mortality. Mycophenolate Mofetil (MMF) has been shown to halt the progression of rp-dcSSc cutaneous and pulmonary involvement in observational and randomized controlled trials, respectively. However, optimal MMF therapy duration has not been established. Here, we describe the clinical evolution of rp-dcSSc patients successfully treated with MMF following MMF therapy discontinuation or dose reduction. METHODS: Twenty-five patients with recent-onset (< 24 mo) rp-dcSSc received MMF as the only SSc disease-modifying therapy. Following MMF discontinuation or dose reduction to or below 1000 mg/day after an average of two years, the Modified Rodnan skin score (mRSS) and Pulmonary function tests (PFT) were serially evaluated for additional 5 years. MMF therapy was re-instituted if the mRSS increased by greater than 20% or if restrictive lung disease developed. RESULTS: From nineteen patients serially evaluated following MMF discontinuation or dose reduction, five patients (26.3%) developed recurrence of rapid skin involvement with an average of 35.9% increase in mRSS from 7.8 to 10.6 points requiring MMF re-institution. Two of these patients also presented worsening respiratory symptoms and reduction of lung volumes in PFTs. Following MMF resumption, mRSS returned to baseline or stabilized and PFTs improved or stabilized. All these patients were maintained on high dose long term MMF treatment. CONCLUSION: Recurrence of severe skin involvement occurred in 26.3% of patients with rp-dcSSc following MMF discontinuation or dose reduction, requiring prompt MMF therapy resumption. These findings confirm the therapeutic benefit of MMF in rp-dcSSc and suggest that MMF treatment should be maintained for longer than 2 years.

Rheumatoid meningitis sine arthritis.

Rheumatoid meningitis is a rare and very serious extra-articular manifestation of rheumatoid arthritis. We present a case of a 7()year-old female with no history of arthritis who developed stroke-like symptoms, seizures, psychosis and compulsive behavior. Serial brain magnetic resonance images (MRI) over four months demonstrated progressive interhemispheric meningeal thickening. She had mild lymphocytic pleocytosis on the cerebrospinal fluid analysis and serum anti-cyclic citrullinated peptide antibodies resulted positive in high titers. She underwent a brain biopsy showing necrotizing granulomas consistent with rheumatoid meningitis. Her symptoms resolved with treatment with glucocorticoids and cyclophosphamide. She has not been diagnosed with rheumatoid arthritis even after 1 year of follow up. Clinicians should be aware of the possibility of rheumatoid meningitis without rheumatoid arthritis and keep it on the differential for patients with aseptic meningitis and otherwise negative work up.

Reporte de caso clínico: síndrome de sinostosis espondilocarpotarsal / Clinical case report: espondilocarpotarsal synostosis syndrome

El síndrome de sinostosis espondilocarpotarsal es un desorden genético muy raro, ocasionado por la mutación del gen de la Filamina B que produce una displasia esquelética. Se hereda de forma autosómica recesiva y en el mundo entero se han reportado apenas 25 casos desde que fue descrito por primera vez. El objetivo de este trabajo es resaltar la importancia de la consanguinidad como factor de riesgo de las enfermedades genéticas recesivas y contribuir con la escasa bibliografía existente a nivel mundial. Se presenta un paciente masculino de 21 años de edad con inteligencia normal que se manifiesta clínicamente con un dismorfismo facial leve, cifoescoliosis severa, luxación de cadera y tobillos bilaterales, hipoacusia neurosensorial, retinitis pigmentaria y ameliogénesis imperfecta. Proviene de padres y abuelos consanguíneos de tercer grado. Debido a la rareza de esta enfermedad, este paciente no fue diagnosticado por sus tratantes y si bien es cierto no existe cura para ella, es importante su reconocimiento oportuno para evitar complicaciones y decidir el tratamiento adecuado.

Espondilocarpotarsal synostosis syndrome is a very rare genetic disorder, caused by the mutation of the filamin B gene which produces a skeletal dysplasia. It is inherited in an autosomal recessive form, and in the world there have been only 25 cases reported since it was first described. The objective of this paper is to highlight the importance of consanguinity as a risk factor for recessive genetic diseases and to contribute to the scarce literature on this topic worldwide. We present a male patient, 21 years of age with normal intelligence clinically showing mild facial dysmorphism, severe kyphoscoliosis, hip and bilateral ankle dislocation, sensorineural hearing loss, retinitis pigmentosa, and ameliogenesis imperfecta. His parents and grandparents are third-degree blood relatives. Due to the rarity of this disease, this patient was not diagnosed by his physicians, and although there is no cure for it, its early recognition is important to avoid complications and to decide on the appropriate treatment.