A 7-year-old male, born to non-consanguineous parents presented with asymptomatic progressive lesions on the knees, elbows and buttocks of 2 years duration. There was history of a similar disorder in two of his cousins. On examination the child had xanthelasma palpebrarum (both upper eyelids), arcus juvenilis involving cornea circumferentially in both the eyes (Fig. 1) and multiple yellowish papules and nodules on the elbows, knees (Fig. 2) and buttocks (tuberous xanthomas). Hair, nails and mucous membrane examination was normal. His systemic examination was unremarkable. His lipid profile showed serum cholesterol of 473 mg %, triglycerides 109 mg%, HDL 35 mg%, VLDL 32 mg%, and LDL 396 mg%. Electrocardiogram and echocardiography were normal. Based on the above findings, a diagnosis of type II hyperlipo-proteinaemia (Familial hypercholesterolemia) was made.

Fig. 1. Xanthelasma palpebrarum (upper eyelid) and arcus juvenilis (involving peripheral cornea)

Fig. 2. Multiple yellowish papules and nodules of tuberous xanthomas over the elbows and knees.

The presence of xanthelasma or corneal arcus in a young person is associated with a higher incidence of hypercholesterolemia, but can be found in normal individuals. The corneal involvement by types II and III hyperlipoproteinemias is usually limited to premature development of corneal arcus (arcus juvenilis). The arcus has a hazy white appearance, a sharp outer border and an indistinct central border and is denser superiorly and inferiorly. An intervening clear space between the limbus and the arcus as well as central corneal sparing is characteristic. Patients heterozygous for familial hypercholesterolemia tend to develop arcus juvenilis and tendon xanthomas by second decade of life. Homozygotes have hypercholesterolemia at birth and develop cutaneous xanthomas in early childhood and their mean age at death is 21 years.

Devinder Mohan Thappa,
Kaliaperumal Karthikeyan,
Department of Dermatology and STD,
Jawaharlal Institute of Postgraduate Medical
Education and Research (JIPMER),
Pondicherry 605 006, India.
E-mail: [email protected]