[Agnogenic myeloid metaplasia. Description of a case characterized by diffuse osteolytic lesions].
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Biomedical subjects
Publications and source records attributed to L Tafi.
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There are approximately 400 reported cases of lingual thyroid (LT) with a clear cut prevalence in paediatric age. These glands are probably quantitatively deficient and function at marginal levels. Thyro-stimulating hormone (TSH) causes hypertrophy producing local symptoms and in younger patients may induce dangerous obstruction. The presumptive diagnosis is usually made by indirect laryngoscopy and thyroscintigraphy. The authors describe a case of LT in a middle aged patient in whom the anomaly remained undiscovered, being without local symptoms, and permitting a normal life. The discovery was made possible by the development in the last four years of a progressive, frank hypothyroidism, probably induced by silent thyroiditis into the ectopic gland.
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Two cases of primary antiphospholipid syndrome are described. A girl presented with myocardial infarction at the age of 6. afterward developed chorea, livedo reticularis, thrombocytopenia and circulating lupus anticoagulant (LAC). A boy, age 7, had an episode of intracranial hypertension and a deep venous thrombosis of a lower left limb, both recurrent in the following years. A high titer of IgG anticardiolipin antibodies (aCI) was detected. These observations suggest that both LAC and aCI tests should be performed in children with thromboembolic phenomena when the criteria for a definite autoimmune disease are lacking.
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Steroids are widely used for treating chronic connective tissue diseases in both adults and children. Unfortunately steroid treatment may produce many side effects and growth retardation is one of these. In juvenile chronic arthritis patients (JCA) oral steroids are mainly administered in severe systemic or polyarticular onset or in JCA complicated by chronic uveitis which is unresponsive to mydriatic and steroid eye drops. Intraarticular steroid treatment is used in pauciarticular onset JCA. This paper will review the literature on steroid treatment and growth rate, and report 35 cases of children with JCA treated with steroids.
Juvenile Rheumatoid Arthritis is a heterogeneous disease currently divided into different subtypes based on clinical characteristics. Significant alterations in frequencies of HLA-A, B and DR antigens have been described previously in children with pauciarticular onset Juvenile Rheumatoid Arthritis. We report the results of a study on 42 italian children with pauciarticular onset Juvenile Rheumatoid arthritis that partially confirm the literature data.
Juvenile rheumatoid arthritis (JRA) is the most common rheumatic disease in children. It is one of the more frequent chronic illnesses of childhood and an important cause of disability. Authors review the literature about JRA.
Spondyloarthropathies represent an important problem within the field of chronic childhood arthropathies. Nosology and differential diagnosis are yet unclear. It is important to distinguish spondyloarthropathies from JCA because biological aspects of affected patients, clinical findings, extraarticular manifestations and prognosis are very different. Ankylosing spondyloarthritis is the prototype of spondyloarthropathies: at the beginning, axial involvement is rare; it may develop during the following years or it may not occur. Enthesopathy is an important finding of spondyloarthropathies. Diseases with joint involvement, HLA B27 related, as ankylosing spondyloarthritis, psoriatic arthritis. Reiter's syndrome or arthritis associated with chronic bowel disease, enter the chapter of spondyloarthropathies. Children with familial history of spondyloarthropathies showing enthesopathy, "sausage fingers" and with the presence of HLA B27, may be classified in the group of spondyloarthropathies. Children with a chronic arthritis with pauciarticular onset, B27 positive, without any sign and finding spondyloarthropathies, should be classified as JCA from the beginning. A follow up of children affected with chronic arthritis is fundamental for a more correct classification of the disease.
Systemic sclerosis is a multisystem disease of unknown cause, characterized by inflammation, vascular and fibrotic changes with excessive accumulation of connective tissue. The lesions may involve the skin and various internal organs (kidney, lung, gastrointestinal tract and heart). The first symptom is usually Raynaud's phenomenon, followed by skin changes; at the beginning the skin is swollen and oedematous, and then becomes thick, taut, shiny and atrophic. The prognosis of SS depends mainly on the severity of visceral involvement. The treatment of SS consists of drugs that improve the microcirculation and reduce collagen proliferation, such as calcium-antagonists (nicardipine) and D-Penicillamine.
The authors report two cases of benign intracranial hypertension associated to Aspirin therapy promptly regressed after withdrawal of the drug. This side effect did never described and its pathogenetic mechanism is unknown.
The Authors report a case of MCTD in a 11 years old girl. Initially the disease presented the classical clinical picture of IDM. Successively its evolution was marked by the appearance of the typical clinical features of JRA, SS and of serum antibodies anti-RNP and by absence of antibodies anti-dsDNA and anti-Sm. These data are characteristic of MCTD. The occurrence of this disease in children is extremely rare and the prognosis is related to a possible renal and/or haemopoietic involvement.
The authors describe a typical case of Sjogren-Larsson Syndrome showing a clear improvement of the spastic paresis after 2 years of physiotherapy and a diet rich in polyunsaturated fatty acids.
The authors report a case of Mucha-Habermann disease in childhood. Mucha-Habermann disease is not a very well known, though not infrequent, disease. It is characterized by recurrent erythematous-papular-vesicular skin lesions associated with arthralgia or arthritis or large joints. Prognosis is generally favourable although an evolution towards Pityriasis Lichenoides Chronica and/or Mycosis Fungoides is possible. There are not specific laboratory findings for this form. Diagnosis is essentially based on histology showing an immunopathogenetic vasculitis. At the present time there is not a safe therapy for the disease; there are however indications for the use of Erythromycin and we followed these in our therapy with positive results.