A 16-month-old female child presented with multiple pruritic, well-defined, reddish purple papular lesions, distributed symmetrically over the body (Fig. 1), maximally on trunk, elbows and knees (Fig. 2), since 3 months.

Fig. 1. Multiple papuloeruptive lesions distributed symmetrically over the body. the body.

The parents noted icterus with clay colored stools at 20 days of age but she could not be properly investigated before 6 months of age, when she was finally diagnosed as a case. of extrahepatic biliary atresia (EHBA). Liver biopsy revealed ductular proliferation with fibrosis and retention of bile. BULIDA scan showed no visualization of gall bladder and no excretion of dye in gut even after 24 hours. Because of late diagnosis leading to cirrhotic changes in the liver, no surgical intervention could be done. The jaundice gradually progressed and at 13 months of age, she developed multiple brownish lesions over the body which were confirmed as papuloeruptive xanthomas on histopathology. Serum cholesterol level was 562 mg/dl, serum alkaline phosphatase was 84 KAU/dl while serum bilirubin was 37.2 mg/dl (direct fraction 34 mg/dl). Xanthomatosis represents a group of disorders characterized by presence of yellowish brown to reddish purple papules and/or nodules, usually associated with disorders of lipid metabolism.

 

Fig.2 Reddish purple lesions affecting the extensor aspect of lower limbs

The primary form occurs either due to a metabolic defect in lipoproteins or due to proliferation of histiocytes and lipid infiltration as in histiocytoma. The secondary form develops due to systemic disorders causing hypercholesteremia like hepatic disorders, renal disorders, diabetes mellitus and myxedeina. Treatment includes a low cholesterol diet, cholesterol lowering agents and control of the systemic disorder, if present.
 

Ramesh K. Agrawal,
Balvir S. Tomar,
Ram Gulati,
Center for Pediatric Gastroenterology,
S.M.S. Medical College, Jaipur,
India.