A case report of giant tuberous xanthoma with type IIa familial hypercholesterolemia

Autor: Bommakanti Sai Sharanya, J Logeshwari, Padmaja Pinjala, Rajeev Singh Thakur
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Indian Journal of Paediatric Dermatology, Vol 25, Iss 1, Pp 31-33 (2024)
Druh dokumentu: article
ISSN: 2319-7250
DOI: 10.4103/ijpd.ijpd_36_23
Popis: Tuberous xanthomas are nontender, yellow to red papules to nodules that occur on the extensor surface, and trauma-prone areas such as the elbows, knees, Achilles tendon, and buttocks. A 10-year-old female child born out of second-degree consanguineous marriage presented with multiple skin-colored nodular lesions on axillary folds, both elbows, cubital fossa, medial side of the wrist, interphalangeal joints, buttocks, knees, popliteal fossa, and Achilles tendons. After complete evaluation, diagnosis of familial hypercholesterolemia type IIa with tuberous xanthoma was made. Tuberous xanthoma usually presents in combined type III dyslipidemias, but in our case, it is presented in type IIa familial hypercholesterolemia. Early diagnosis and treatment of familial hypercholesterolemia are important for preventing complications.
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