At that time, isolated cutaneous lesions characterised by yellow-brownish papules less than 5 mm in diameter were found distributed along the abdomen, axilla and eyelids (fig. This was a nodular lesion characterised by a dermal infiltrate of histiocytes, lymphocytes, neutrophils and a variable number of xanthoma cells with foamy cytoplasm, both mononucleated and multinucleated. The biopsy sample did not exhibit the V600E mutation of the BRAF gene.a, b Yellow-brownish papules of the skin.The latter are giant cells with multiple nuclei arranged in wreath-like fashion, described as Touton cells (arrow). c Low resolution microscopic specimen of a papule with epidermal and dermal infiltrate. The clinical presentation, the histopathology of cutaneous lesions and the MRI findings were consistent with XD, a form of NLH with cutaneous and CNS involvement.
It is suggested that the anti-inflammatory effect of anakinra on macrophages would account for the improvement in the proliferation of these cells in different areas.The patient is still on anti-epileptic drugs but without clinical or electroencephalographic evidence of seizures.NLH belongs to a heterogeneous group of disorders originating from dendritic cells with proliferation of macrophages containing lipoid material and expressing CD68 and factor XIII.The patient had thoracic and abdominal CT scans which were unrevealing.The patient never complained of limb pains, and skeleton X-ray examinations requested for other studies found no bone abnormality.