Bilateral foot drop and cherry skin lesion

A 34-year-old woman with no previous medical history presented with bilateral lower limbs weakness and numbness for three months. It was progressively worsening that she required wheelchair for ambulation in the last month. Neurological examination revealed bilateral foot drop with mild pedal oedema. There was symmetrical distal muscle weakness of the lower limbs with ankle dorsiflexion of 1/5, plantar flexion of 3/5, knee and hip flexion and extension of 4/5. Deep tendon reflexes were absent at the ankles and normal at the knees. Pin-prick sensation was reduced to the ankles and vibration sense was lost to knee bilaterally. The upper limbs and cranial nerves examinations were unremarkable. There were a few peculiar cutaneous lesions on the trunk and right arm. [Fig. 1] Blood investigations revealed mild thrombocytosis of 480 × 10⁹/L, normal haemoglobin and white cell count. Serum protein immunophoresis and immunofixation revealed 7.7 g/L paraproteinemia of IgA lambda clonality. Neurophysiological analysis showed a length-dependent sensorimotor polyneuropathy, predominantly axonal with mild demyelinating features. What is the diagnosis?

The diagnosis of POEMS syndrome was subsequently made with the evidence of hypogonadism (low FSH and LH) and the presence of 16% plasma cells of lambda restriction on bone marrow examination. She was treated with lenalidomide and dexamethasone followed by autologous stem cell transplantation. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) is a rare multisystem disorder which often results in severe neurological disability. The diagnosis of POEMS syndrome requires the presence of both polyneuropathy and monoclonal plasma cell proliferative disorder, one major criteria (Castleman disease, sclerotic bone lesion or elevated vascular endothelial growth factor) and one minor criteria (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilloedema and thrombocytosis/polycythaemia). [] Skin changes are common and present in more than half of the patients. The common findings are acrocyanosis, hypertrichosis, glomeruloid hemangioma and nail changes. [] VEGF is a potent angiogenic pro-inflammatory cytokine found significantly raised in POEMS syndrome. Although it is not the primary cause, it is central to the pathogenesis of the disease. Glomeruloid hemangioma is a cutaneous vascular proliferation and serum VEGF is thought to play a pathogenic role. Occasionally, patients with POEMS syndrome do not present with classical features and paraproteinemia may be missed. The recognition of this distinctive lesion in the spectrum of POEMS syndrome can be very important and a useful clue to achieve the diagnosis.

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