Adult Langerhans Cell Histiocytosis Presenting With Skin Lesions, Sclerosing Cholangitis and Pneumothorax

A 32-year-old nonsmoker male presented with five years history of skin lesions involving scalp, chest, and abdomen. He also had 3 episodes of sudden onset dyspnea due to spontaneous pneumothorax that required intercostal chest tube drainage. Currently he presented with progressive jaundice with pruritus and clay-colored stools over 3 months. Examination revealed scaly pruritic papulonodular lesions over the scalp, posterior auricular region,[Fig. 1(A)] and trunk. Nail examination revealed onycholysis and nail bed destruction[Fig. 1(B)].On auscultation, decreased air entry was noted in the bilateral infrascapular, infra-axillary and mammary areas. The liver was palpable 6 cm below the right costal margin. Complete blood counts and renal function tests were normal. His bilirubin levels were elevated (6.8/3.2 mg/dl {Total/Direct}) with a cholestatic pattern of liver enzymes (AST 85 U/L, ALT 56 U/L and ALP of 684 U/L). HRCT chest revealed multiple cystic areas with hydropneumothorax[Fig. 1(C)].PET scan revealed multiple FDG avid (SUV max: 9) lytic lesions in the bilateral pelvic bone (adjacent to bilateral sacroiliac joint) and D6, D10, D11 and L1 vertebral bodies. MRCP revealed dilation of intrahepatic biliary radicles and ducts in bilateral lobes with stricture in the left segmental duct and multiple strictures in the in right segmental duct suggestive of sclerosing cholangitis. Fig. 2 (C,D)] Liver biopsy revealed portal tract infiltration by lymphomononuclear infiltration along with presence of loose clusters of histiocytes[Fig. 2(A)] which were positive for CD1a on IHC[Fig. 2(B)] suggestive of Langerhans Cell Histiocytosis (LCH). Bone marrow examination showed mild histiocytosis with no evidence of infiltration. BRAF V600E IHC was negative on the liver biopsy tissue. The patient underwent an intra thoracic chest tube drainage and was given combination chemotherapy with prednisolone and weekly vinblastine for 6 cycles after which he had partial response and was switched to monthly vinblastine, prednisolone and oral 6 mercaptopurine. Patient was planned for liver transplantation after remission of LCH, however he succumbed to progressive liver failure at 8 months from diagnosis. This case highlights that managing sclerosing cholangitis in patients with LCH is challenging and often confers a poor prognosis.

Fig. 1.

A Scaly papulonodular lesions involving posterior auricular region with crusting. B Onycholysis, hyperkeratosis and nail plate loss. C HRCT showing multiple thin-walled cysts in right lower lobe and hydropneumothorax on left side 

Fig. 2.

A Histopathological images from liver showing lymphomononuclear infiltrate and loose clusters of histiocytes along with intracanalicular cholestasis (B) IHC for CD1a highlights the atypical histiocytes around portal tracts, C T2 MRI showing patchy hyperintense infiltrate diffusely involving liver, D MRCP image showing stricture and dilatation of intrahepatic biliary radicles(block arrows)