Patient with Madelung syndrome and difficult-to-treat airway

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Cytophagic histiocytic panniculitis with haemophagocytosis in a patient with familial multiple lipomatosis and review of the literature.

We report a patient with the extremely rare familial multiple lipomatosis syndrome, who developed the uncommon autoimmune disease cytophagic histiocytic panniculitis, manifested as inflammation of preexisting lipomas. Despite his initial critical condition and unsuccessful treatment with steroids, he responded to cyclosporin and remains well 15 years after diagnosis. In contrast with most previous reports, our patient stays dependent on cyclosporin; repeated attempts of discontinuing or substituting treatment were quickly followed by relapse. Haemophagocytic panniculitis is considered as a T-cell disorder, but its exact pathophysiological mechanism has not been clarified. Differential diagnosis of cytophagic histiocytic panniculitis mainly includes malignant histiocytosis, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and lupus erythematosus panniculitis (lupus profundus). We discuss the main clinical features, diagnostic challenges and treatment issues of this usually benign, but at times life-threatening autoimmune condition.

Mesotherapy for benign symmetric lipomatosis.

BACKGROUND: Benign symmetric lipomatosis, also known as Madelung disease, is a rare disorder characterized by fat distribution around the shoulders, arms, and neck in the context of chronic alcoholism. Complete excision of nonencapsulated lipomas is difficult. However, reports describing conservative therapeutic measures for lipomatosis are rare. METHODS: The authors present the case of a 42-year-old man with a diagnosis of benign symmetric lipomatosis who had multiple, large, symmetrical masses in his neck. Multiple phosphatidylcholine injections in the neck were administered 4 weeks apart, a total of seven times to achieve lipolysis. RESULTS: The patient's lipomatosis improved in response to the injections, and he achieved good cosmetic results. CONCLUSIONS: Intralesional injection, termed mesotherapy, using phosphatidylcholine is a potentially effective therapy for benign symmetric lipomatosis that should be reconsidered as a therapeutic option for this disease.

Multiple benign symmetric lipomatosis--a differential diagnosis of obesity. Is there a rationale for fibrate treatment?

Multiple benign symmetric lipomatosis (MSL) is characterized by a rapid progression of multiple, symmetric nonencapsulated fat masses in the face, neck, and extremities. The lipomas are thought to be the result of defective brown adipose tissue (BAT). In up to 90% MSL is associated with chronic alcohol abuse. Prognosis depends on the concomitant presence of a neuropathy with a mortality of 25.8%. Therapeutic options are limited to alcohol abstinence and surgical interventions. We report here about a 53-year-old MSL patient who increased his body weight by 37 kg over 10 years. Multiple lipectomies were performed, but disease progressed. We treated him with fenofibrates (200 mg/day). Disease progression discontinued and circumferences of abdominal adipose tissue reduced. Fibrates, peroxisome proliferator-activated receptor alpha (PPAR alpha) agonists, are pleiotropic hypolipidemic drugs, and might have worked by suppression of protein expressions involved in the architecture of BAT keeping it in a quiescent state.

Multiple benign symmetric lipomatosis--a differential diagnosis of obesity: is there a rationale for fibrate treatment?

Multiple benign symmetric lipomatosis (MSL) is characterized by a rapid progression of multiple, symmetric nonencapsulated fat masses in face, neck, and extremities. The lipomas are thought to be the result of defective brown adipose tissue (BAT). In up to 90%, MSL is associated with chronic alcohol abuse. Prognosis depends on the concomitant presence of a neuropathy with a mortality of 25.8%. Therapeutic options are limited to alcohol abstinence and surgical interventions. We report here about a 53-year-old MSL patient who increased his body weight by 37 kg over 10 years. Multiple lipectomies were performed but disease progressed. We treated him with fenofibrates (200 mg/day). Disease progression discontinued, and circumferences of abdominal adipose tissue reduced. Fibrates, peroxisome proliferator-activated receptor alpha agonists, are pleiotropic hypolipidemic drugs and might have worked by suppression of protein expressions involved in the architecture of BAT keeping it in a quiescent state.

Lipolysis of lipomas in patients with familial multiple lipomatosis: an ultrasonography-controlled trial.

BACKGROUND: Surgery of multiple lipomas, as in patients with familial multiple lipomatosis, is often limited by poor aesthetic outcome owing to extensive scarring. For this reason, phosphatidylcholine (PDC) has been widely used to treat areas of localized fat accumulation. However, no reports of lipoma therapy with intralesional application of PDC, that is, injection lipolysis, have been published to date. OBJECTIVE: To investigate whether injection lipolysis with PDC is an effective therapeutic option for patients with multiple lipomas. METHODS: Thirty lipomas in 10 patients were sonographically measured prior to treatment. Four injections at intervals of 6 to 8 weeks were done. Sonographic measurements of lipoma size were repeated before each injection. Side effects, a pain score using a visual analogue scale, and patient satisfaction were noted. In one lipoma, histologic changes after lipolysis are described. RESULTS: After four injections, a significant reduction in size of 45.8% was achieved. No complete elimination was seen in any lipoma. Histology showed a mild granulomatous septal panniculitis. Hematoma occurred in eight cases (27%). Four patients described pain on pressure for 3 days after injection. No severe side effects or systemic reactions were observed. CONCLUSION: Although surgery is the gold standard for lipoma therapy, injection lipolysis with PDC can also significantly reduce lipoma size. Complete elimination was not observed in any lipoma. Given that this was a short-term study, long-lasting therapeutic effects and possible recurrence of lipoma cannot be evaluated.

[Multiple symmetric lipomatosis in the otolaryngology as diagnostic and therapeutic problem]. / Tlszczakowatosc uogólniona w otolaryngologii--jako problem diagnostyczny i terapeutyczny.

Multiple symmetric lipomatosis (MSL) is a systemic disease connected with a degeneration of the adipose tissue. Association of reduced glucose tolerance, hyperinsulinemia, hyperlipoproteinemia, hyperuricemia, macrocytic anemia and renal tubular acidosis, polyneuropathy have been described. Lipomatosis was initially described in 1846 by Brodie but the exact aetiopathogenesis is still unknown. Depending on the anatomical location of the lipomatosis we can divided MSL into two types. MATERIAL, METHODS AND THERAPY: We describe the findings in three patients with symmetric lipomatosis: two (n=2) with the first and one (n=1) with the second type of the disease. The patients were diagnosed and treated in the Department of the Otolaryngology during last of two years (2002 to 2004). Patients had executing following research: ultrasonography of the neck and abdominal cavity (n=2), radiological examination of the chest (n=3), computer tomography of the neck (n=1), thin-needle biopsy (n=3), histopathological examination (n=2) and laboratory investigations (n=3). Two patients received the pharmacological treatment (magnesium and the vitamin B6) and we observed marked regress of the disease. In the patient who at first did not agree for the treatment, came up to the heavy increase mass of tumors, especially on the neck. Liposuction and the pharmacological treatment were executed in this patient. He is still in the observation. RESULTS: In case of tumors of face and neck, we have to take into account degenerative processes of the adipose tissue. Our observations indicate the efficiency of the magnesium and the vitamin B6 therapy in patients with multiple symmetric lipomatosis. The obtainment in this range of reliable conclusions require of research at the greater number of patients. We want to underline that there are any research of the influence of the magnesium and the vitamin B6 on the course of this disease in the literature.

[Madelung's disease (benign symmetric lipomatosis): still a mystery?]. / Morbus Madelung (Benigne symmetrische Lipomatose)--Immer noch ein Rätsel?!

The benign symmetric lipomatosis (Madelung's disease) is frequently associated with alcoholism. After 150 years of history, many questions about its physiopathological mechanism are still unresolved. Presentation of a patient with this rare condition is reported, followed by a review of the literature, where the pathogenesis, the differential diagnosis and the surgical approach of this syndrome are especially pointed out.

Multiple symmetric lipomatosis (Launois-Bensaude syndrome): effect of oral salbutamol.

A 65-year-old Kenyan Asian developed rapidly progressive multiple symmetrical lipomatosis over 8 years. Noradrenaline infusion showed a normal response of plasma free fatty acids. In-vitro studies of the lipomatous tissue demonstrated intact lipolytic activities with a normal rate of free fatty acids release and cyclic AMP accumulation with or without isoprenaline and fenoterol stimulation. A clinical trial of oral salbutamol, a beta 2-agonist, was performed with significant therapeutic effect. The body fat mass showed a reversal of the rapid progression while on the treatment, associated with an increase in the resting metabolic rate.