Multiple xanthomas are rare in children and should be investigated because they are often a sign of a systemic disease such as Alagille syndrome (ALGS), as highlighted by a case report presented in the Journal of Skin and Sexually Transmitted Diseases.

The patient reported in the study was an 8-year-old boy who presented with multiple skin-colored and slightly yellowish papules and plaques over various parts of the body including the face, elbows, hands, buttocks, knees, and ankles. These lesions were indicative of numerous forms of xanthomas, including eruptive, tendon, palmar, plane, and tuberous.

Upon further examination, the child also exhibited mild hepatomegaly and an ejection systolic murmur at the third left intercostal space. Blood work revealed anemia, hyperbilirubinemia, and elevated levels of alanine and aspartate transaminases and alkaline phosphatase. Elevated levels of total cholesterol, low-density lipoprotein, and triglycerides along with reduced levels of high-density lipoprotein were revealed on a fasting lipid profile.

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The child was initially diagnosed with pulmonary artery stenosis and hepatomegaly with cholestasis at 5 months of age, but further analysis and treatment were not provided due to financial constraints. Renal and thyroid function tests, ophthalmic evaluation, and skeletal survey were all revealed to be normal.

These findings, along with characteristic facial features including a prominent forehead, deep-set eyes, bulbous nose, and pointed chin, led to a diagnosis of ALGS. Genetic testing was not performed for the patient or family members, however, due to financial constraints.

The patient was referred to the gastroenterology and pediatric cardiology departments and was started on oral suspensions of cholestyramine resin powder 3 times a day. After 1 month, the patient had slight reductions in serum lipid and liver enzyme levels and the size of the xanthomas.

“This case report highlights the importance of a meticulous evaluation in children with xanthomas as it can unravel an underlying serious systemic condition,” the authors suggested.


Jose N, Zacharia M, Jayalakshmy PL, Sobhanakumari K. Alagille syndrome: a rare cause for xanthomatosis. J Skin Sex Transm Dis. Published online May 18, 2022. doi:10.25259/jsstd_1_2022