Launois-Bensaude syndrome and Bureau-Barrière syndrome in a psoriatic patient: successful treatment with carbamazepine

ARTICLE

Multiple symmetric lipomatosis is a rare inherited disease, characterized by the deposition of subcutaneous fat along the neck, trunk and proximal part of the extremities. Peripheral neuropathy, macrocytic anaemia and chronic hepatopathy have been reported in association with the disease. Macrocytic anaemia and chronic hepatopathy are probably secondary to high alcohol consumption, which is frequently associated. We report a case of a patient with multiple symmetric lipomatosis who also had psoriasis and fulfilled the criteria of Bureau-Barrière syndrome as well.

Case report

The 41-year-old white male patient had had psoriasis for 10 years, peripheral neuropathy and malum perforans pedis for several years as well as gangrene and amputation of the second and third toes on the right foot 2 years previously.

He was not taking any medicine. His alcohol consumption was about 1 liter of red wine per day. Dermatological examination revealed inflammatory, red plaques with silvery scaling, confluent over large areas of the body, and symmetric enlargement of the subcutaneous tissue involving the proximal parts of the upper and lower extremities, the back and also the right side of the neck, giving the patient a pseudomuscular appearance (Figs. 1 and 2). The second and third toes of the right foot were missing (Fig. 3).

Laboratory tests showed macrocytic anaemia (RBC: 3,5 T/l, MCV: 105 fl), elevated ASAT and GGT values (ASAT: 56 U/l, GGT:227 U/l). Other routine laboratory parameters were within the normal range (ESR: 10 mm/h, WBC: 6,4 G/l, Hb: 136 g/l, Ht: 0,42, Thr: 224 G/l, glucose: 5,8 mmol/l, bilirubin:norm., BUN: 4,5 mmol/l, creatinine: 72 umol/l, ALAT: 39 U/l, LDH: 410 U/l, ASO: 132 IU/l, urine analysis:negative). Ultrasonography showed hepatomegaly and features of chronic pancreatitis, also known for 5 years.

Chest X-ray was negative.

X-ray of the feet revealed bilateral osteoporosis, and acro-osteolysis on the right side. Neurological examination confirmed a severe peripheral neuropathy.

Urology and oto-laryngology examinations were negative. In a general check up we have not found any tumour or signs of internal fat deposition.

On the basis of the characteristic subcutaneous lipomatosis, peripheral neuropathy, anaemia and hepatopathy associated with alcohol consumption, the diagnosis of Launois-

Bensaude syndrome was accepted.

The patient fulfilled the criteria of a Bureau-Barrière syndrome as well, according to the acroosteolysis and malum perforans pedis in his history.

For the peripheral neuropathy and the psoriasis a carbamazepin therapy (400 mg/day) was initiated. The psoriatic skin symptoms cleared within 6 weeks. The patient continued this medication (400, then 300 mg/day) for 8 months, without side effects. His skin remained symptomfree and his neuropathy remarkably improved.

Discussion

Multiple symmetric lipomatosis was first described in 1846 by Sir Benjamin Brodie. In 1888, Madelung observed a condition that he called diffuse lipomatosis of the neck [1].

In 1898 Launois and Bensaude reported a widespread form of the disease involving the back, shoulders, arms and the neck, which they termed "l'adeno-lipomatose symmetrique" [2].

The onset is in adulthood (from 20 to 50 years), predominantly affecting men [3]. Kratz et al. reported two children with the characteristic findings of multiple symmetric lipomatosis [4].

Peripheral neuropathy, macrocytic anaemia, chronic hepatopathy and metabolic abnormalities have been reported in association with Launois-Bensaude syndrome [3, 5]. There is a high correlation with alcohol intake [6] and frequent findings include elevated liver enzymes, diabetes or abnormal glucose tolerance, hyperlipidaemia (type IV, V) [3, 7], and there are two reports on the coexistance with psoriasis [8, 9].

Launois-Bensaude syndrome can be associated with malignant tumours, especially lung and urogenital cancer, as well as with Kaposi's sarcoma [10].

The underlying defect is thought to be a defective lipolytic response to catecholamins [11]. This altered reactivity could be due to the reduction of the fat tissue beta receptors [12], or to an abnormal amount or a defective function of Gs-protein, which is the coupler between beta-adrenergic receptors and adenylate cyclase [5].

Alcohol abuse might facilitate the clinical expression of the molecular defect.

The course of symmetric lipomatosis is variable: the initial period of relatively rapid growth is usually followed by slow progression or stabilization.

Internal fat deposition in the mediastinum is not uncommon and might cause a tracheal compression [5, 12, 13].

The lipoma is benign with one case report of malignant transformation to liposarcoma [14]. The treatment is palliative. Surgical removal of the lipomatous tissue is not easy, because the lipomas are not capsulated, are extremely vascularized and moreover frequently recur [12, 15]. Leung et al. reported that treatment with the beta agonist salbutamol was effective in reducing the lipomatous mass [16]. Therapy of the associated neuropathy is extremely difficult [3].

Our psoriatic patient fulfilled the criteria of both Launois-Bensaude and Bureau-Barrière syndromes (neuropathy, acro-osteolysis, malum perforans pedis). (Please note, that there is a Bureau-Barrière-Thomas syndrome, which is a rare hereditary palmoplantar keratoderma [17]). Considering the severe peripheral neuropathy resulting in a Bureau-Barrière syndrome and the preliminary report on the efficacy of carbamazepine in psoriasis [18], we initiated a carbamazepine monotherapy for both indications.

Smith et al. in 1997 reported a psoriatic patient, who instead of etretinate was mistakenly treated with carbamazepine. The rapid response to carbamazepine suggested that it might be a therapeutic option for psoriasis [18].

Carbamazepine, a tricyclic compound, is basically used in the treatment of epilepsy and some other neurological diseases, like peripheral neuropathy. Carbamazepine inhibits the uptake of norepinephrin, and blocks the cyclic- AMP mediated calcium influx, which is under the control of neuropeptide release. In psoriatic skin neuropeptides are secreted to an increased degree.

The release of neuropeptides (substance P, calcitonin gene related peptide, vasoactive intestinal peptide) induces local inflammation and enhances the keratinocyte proliferation rate in psoriatic skin [19, 20].

Therefore the effectiveness of carbamazepine both in psoriasis and peripheral neuropathy can be explained by the modulation of neuropeptide pathways.

Taking care of our patient we faced several therapeutical difficulties, and the trial with carbamazepine monotherapy was initiated as a new therapeutic option.

The rapid and long term response of psoriasis and peripheral neuropathy suggested that carbamazepine therapy was a good option for our patient.

Article accepted on 7/1/02

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