The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Background: Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.

Methods: All patients with known GD, living in France, with ≥ 1 consultations (1980-2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with clinical description; and its subgroups: patients with ≥ 1 follow-up visits, to investigate complications; recently followed (2009-2010) patients; and patients treated during 2009-2010, to examine complications before and during treatment. Data are expressed as medians (range) for continuous variables and numbers (%) for categorical variables.

Dramatic etanercept-induced remission of relapsing febrile sciatic neuralgia related to p46l mutation of the tnfrsf1a gene.

An adult patient experienced attacks of severe low back pain and sciatic neuralgia for several years, sometimes associated with myalgias, skin lesions, and high fever. Specific inflammatory laboratory tests were the major abnormalities. P46L mutation in the gene on chromosome 12p13 that encodes tumor necrosis factor receptor superfamily 1A (TNFRSF1A) was found.

Multiple cutaneous angiomas and Poems syndrome.

Introduction: Poems syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, M-proteins, and skin lesions.

Case: We describe here a case in which the eruption of diffuse cutaneous angiomas in a woman with a history of bone plasmocytoma and progressive polyneuropathy helped physicians to diagnose Poems syndrome.

Discussion: Other manifestations of Poems syndrome in this patient included endocrine dysfunction (hypothyroidism, adrenal insufficiency, and hypogonadism), sclerotic bone lesions of the femoral shaft, ribs, and vertebral body, monoclonal gammopathy, and anasarca.

Severe relapsing polychondritis occurring after ear piercing.

We describe a case of relapsing polychondritis with laryngo-tracheal involvement, occurring after ear piercing in a 39-year-old woman. Polychondritis was clearly time-related to ear piercing. This association draws attention to the risk of relapsing polychondritis during body art practices with cartilage trauma.