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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