Papilloedema and hypertrichosis: the varied and harried manifestations of POEMS syndrome

DESCRIPTION

A Hispanic man presented with a 3-month history of progressive weakness of the arms and legs. Exam was remarkable for bilateral papilloedema (fig 1), hypertrichosis and thickened skin of the arms and hands (fig 2), diminished deep tendon reflexes, splenomegaly and anasarca. Investigations revealed a homogenous band in the gamma region of serum immunofixation. Cerebrospinal fluid studies revealed elevated protein. MRI studies of the brain revealed 8 mm choroid plexus cysts. Nerve conduction and electromyogram studies confirmed a peripheral neuropathy with combined demyelinating and axonal features.

Figure 1.

Fundal photograph showing extensive oedematous disc margins and a small haemorrhage in the upper right disc quadrant consistent with optic disc oedema.

Figure 2.

Photograph of the patient’s arms and hands demonstrating hypertrichosis and thickened skin.

After a prolonged hospital course with treatment involving plasma exchange and steroids, the patient died secondary to progressive anasarca, pulmonary hypertension and congestive heart failure. An autopsy revealed generalised organomegaly and lymphadenopathy secondary to multicentric angiofollicular hyperplasia and confirmed other findings consistent with POEMS syndrome (Crow-Fukase syndrome), including vertebral lytic and sclerotic lesions consistent with an osteosclerotic or plasma cell disorder.

POEMS or Crow-Fukase syndrome is an unusual multisystem disorder with the cardinal manifestations of polyneuropathy (P), organomegaly (O), endocrinopathy (E), monoclonal gammopathy (M) and skin changes (S).¹ Neurological features may include papilloedema.² Skin changes often consist of hypertrichosis and sclerosis.³ Awareness of the many manifestations of POEMS syndrome and the frequent difficulty in initial diagnosis behoves all clinicians.