2nd Department of Internal Medicine, Attikon University Hospital, Athens, Greece
Correspondence to: A. Psyrri, Attikon Hospital, Rimini 1, Haidari, Athens, Greece. E-mail: Diamando.Psyrri{at}yale.edu
SIR, A 27-yr-old woman was referred for evaluation of mild anaemia, leucocytosis and thrombocytosis. History revealed a diagnosis of RothmannMakai syndrome (lipogranulomatosis subcutanea), a rare variant of WeberChristian disease, at the age of 13 yr. At that time the patient had presented with a minor fracture of the left ankle, and when the plaster was removed she was found to have irregular red discoloration on the outer part of the ankle. This subsequently spread to involve both shins. A biopsy specimen was obtained from one of the erythematous nodules. In the histopathological sections there was a moderate lymphocytic infiltration in the lobules of the panniculus and fibrocytes invading the lobules from the fibrous septae. Work-up at that time also included antinuclear antibodies (ANA), rheumatoid factor (RF), C-reactive protein (CRP), anti-double-stranded DNA, anticardiolipin, anti-Scl-70 and cryoglobulins, which were all negative. A complete blood count was normal. With these findings and lack of any systemic manifestations, a diagnosis of RothmannMakai syndrome was established. The patient received an 8-month course of steroids. The erythema resolved and the patient was left with two slightly atrophic areas in both calves. No relapse has occurred. History also revealed Hashimoto's thyroiditis diagnosed at the age of 14 yr and the onset of alopecia areata at the age of 20 yr.
The patient has developed progressive increase in her leucocyte count [(812) x 109/l] with a normal distribution and platelet count [(450600) x 109/l] over the past 8 yr. When seen in our clinic she was feeling well. Except for obesity, the physical examination was unremarkable. Haemoglobin was 14 g/dl with normal red cell indices, the platelet count was 668 x 109/l and the leucocyte count was 16.2 x 109/l with a normal distribution. A peripheral blood smear revealed anisopoikilocytosis and numerous HowellJolly bodies, indicating functional hyposplenism. Computed tomography revealed a small spleen and no flow signals could be derived by colour Doppler measurements from the spleen.
RothmannMakai syndrome is a rare form of WeberChristian disease, usually seen in adolescent and middle-aged women [1]. Subcutaneous nodules develop during the course of the disease whereas systemic manifestations are absent. Multiple painless nodules appear throughout the muscle and subcutaneous tissues. The primary pathological process is lobular panniculitis, which passes through the same three stages as WeberChristian disease. In the first stage, there is acute inflammation of the fat lobules with fat cell degeneration accompanied by an infiltrate of neutrophils, lymphocytes and macrophages. The second stage is characterized by many foamy histiocytes, and the infiltrate is discretely localized to the fat lobules. Finally, the foam cells are replaced by fibroblasts. The first two histological stages correspond to clinically apparent induration, while in the third stage atrophy of the skin may develop. There are no diagnostic laboratory findings. The diagnosis is based upon clinical and pathological findings. Corticosteroid treatment does not prevent new lesions or seem to alter the course of the self-limited disease.
Infiltrative, inflammatory or thromboembolic processes in the parenchyma of the spleen can cause a functional loss of the organ. This phenomenon is called functional asplenia and occurs as a complication, especially in sickle cell disease, lupus erythematosus (SLE) and after bone marrow transplantation [24]. Functional asplenia has complicated the course of autoimmune diseases other than SLE, such as candidiasis endocrinopathy syndrome and alopecia areata [5].
This is the first report of functional asplenia occurring in the setting of RothmannMakai syndrome. The aetiology and pathogenesis of RothmannMakai syndrome is still unknown. ChristianWeber disease often occurs in patients with autoimmune disorders [68], as is the case with our patient, reinforcing the view that RothmannMakai syndrome, a variant of ChristianWeber, may also have an autoimmune basis.
The authors have declared no conflict of interest.
References
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