[Mucopolysaccharidosis: A review]. / Mucopolysaccharidoses : quand y penser ?

Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common symptoms are short stature, facial dysmorphism, chronic articular pains that can mimic chronic inflammatory rheumatism, axial and peripheral bone involvement, hepatosplenomegaly and an early carpal tunnel. Depending on the type of mucopolysaccharidosis, corneal, cerebral or cardiac involvements are possible. Screening is based on the analysis of urinary glycosaminoglycans. The deficient enzyme assay and the gene analysis confirm the diagnosis. Mucopolysaccharidosis recognition is important for patient management and family screening. In addition, specific enzyme replacement therapy exists for certain types of mucopolysaccharidosis. Role of clinician is important to evoke and diagnose mucopolysaccharidosis.

[Very early and early systemic sclerosis: An update]. / Mise au point sur les sclérodermies très précoces et précoces.

Classification criteria for systemic sclerosis evolved over the last three decades, allowing an earlier classification. In the late 2000s, the EULAR Scleroderma Trials and Research Group validated very early and early systemic sclerosis criteria. Raynaud phenomenon, anti-nuclear antibody positivity and the puffy fingers are "Red flags" that must lead to refer the patient to a specialist and benefit from a capillaroscopy and the specific autoantibodies. At the stage of very early systemic sclerosis, pulmonary, cardiac and digestive involvements may be present and must be screened. Herein, we detail very early and early systemic sclerosis criteria, as well as the predictive factors of evolution towards a systemic sclerosis.