© 2004 The International Society of Dermatology International Journal of Dermatology 2004, 43, 173–175 173 Familial hypercholesterolemia (FH) is the most commonly recognized disorder of lipoprotein metabolism in childhood. We report a case of FH in a 5-year-old boy with onset of jaundice since birth, and multiple planar, tuberous, palmar and intertrigenous xanthomas covering the trunk and limbs. His total cholesterol was 590 mg / dl and triglycerides were 171 mg / dl. Echocardiography revealed mild aortic stenosis as a result of premature atherosclerosis. He was diagnosed with homozygous FH, and is reported here because of the interesting clinical features. Blackwell Publishing Ltd. Oxford, UK IJD International Journal of Dermatology 0011-9059 Blackwell Publishing Ltd, 2003 45 Report FH Type II-b Prasad and Chidambaram CAMEO Familial hypercholesterolemia (Type IIb) in a child: a case report with interesting features P. V. S. Prasad, MBBS, DV, DD, MD, and N. Chidambaram, MBBS, MD From the Department of Dermatology, Rajah Muthiah Medical College and Hospital, Annamalai University, India Correspondence Dr P. V. S. Prasad No. 88, Auta Nagar Sivapuri – post Annamalainagar – 608 002 Tamil Nadu India Introduction Hyperlipidemias are classified as primary and secondary. Primary hyperlipedemia is diagnosed after excluding the secondary causes. Glycogen storage disease and congenital biliary atresia are the two common causes of secondary hyperlipidemia manifesting in the first year of life. Exogenous factors like use of oral contraceptives, prednisolone, anabolic steroids and 113-Cis retinoic acid are the most prevalent causes of secondary hyperlipidemia in the first two decades of life. 1 Patients with primary hyperlipdemia have been classi- fied into five major groups according to plasma lipoprotein 2 patterns (types I to V). 2 Familial hypercholesterolemia (FH) is the most com- monly recognized and best understood disorder of lipoprotein metabolism in childhood. 3 In FH, the hypercholesterolemia is usually a manifestation of increased levels of LDL choles- terol. Triglyceride levels are usually normal (type II a) or may be elevated (type IIb). We report a case of FH with aortic stenosis. Case Report A 5-year-old male child born to nonconsanguinous parents was seen because of complaints of jaundice since birth and generalized skin lesions of 1 year in duration. The patient developed jaundice soon after birth, which resolved partially with conservative management. At the age of 4 years lesions developed, initially on the buttocks, spread- ing to the flexures and later to the extensor aspects of the limbs and face within a few months. These lesions were pru- ritic. The patient had loss of appetite but was otherwise active and playful. There was no history of abdominal pain, clay- colored stools, vomiting or diarrhoea. Past and family history were noncontributory. On examination the child was found to be moderately nourished and jaundiced. Weight was 7 kg, with a head cir- cumference of 45 cm and a height of 85 cm. Cutaneous exam- ination revealed multiple eruptive yellowish papules on the eyelids (Fig. 1a), trunk (Fig. 1b), and limbs. There were a few nodules covering the ankle joints (Fig. 1c). Interdigital web space in the fingers showed multiple yellowish papules. Flexural areas on the trunk and limbs showed large papules with the presence of Koebner’s phenomenon. There were also many rough keratotic papules on the trunk. Mucosa, hair and nails were normal. Small yellowish papules were seen on the palms and soles. Systemic examination revealed nontender hepatomegaly 4 cm below the right costal margin, and a pal- pable spleen. An ejection systolic murmur was heard in the aortic area. Respiratory and central nervous system examina- tions were found to be normal. Results Hemoglobin was 10.3 gs%. Serum bilirubin levels varied from 4.2 to 9.8 mg /dl on various occasions. The last report was a total bilirubin level of 9.8 mg /dl with a direct bilirubin level of 4.6 mg /dl. AST: 264 IU, ALT: 217 IU and ALP: 290 W. Serum lipid profile is shown in (Table 1). The other investigations were found to be within normal limits. Ultrasound examination of the abdomen showed mild hepa- tomegaly with normal intrahepatic biliary radicals. Common bile duct and portal vein were normal. Echocardiographic examination revealed left ventricular