Familial combined hypercholesterolemia type II b presenting with tuberous xanthoma, tendinous xanthoma and pityriasis rubra pilaris-like lesions

Bhagwat, Pradeep Vittal; Tophakhane, Raghavendra S; Kudligi, Chandramohan; Noronha, Tonita Mariola; Thirunavukkarasu, Arun

doi:10.4103/0378-6323.62988

Cited by 10 publications

(7 citation statements)

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“…They are typically found over pressure areas such as extensor aspects of knees, elbows, and buttocks. [24] Histologically, apart from foamy macrophages, they have also been found to contain primitive mesenchymal cells, elongated perivascular, and fibroblast-like cells, and lysosome-filled macrophages, indicating possible stages in the evolution of dermal mesenchymal cells into mature, cholesterol-rich foam cells. [5]…”

Section: Discussionmentioning

confidence: 99%

Giant tuberous xanthomas in a case of type IIA hypercholesterolemia

Babu

Venkataram

Santhosh

et al. 2012

J Cutan Aesthet Surg

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Tuberous xanthomas are papulonodular skin lesions present in lipoprotein metabolism disorders. A patient presented with multiple large swellings (up to 20 cm in size) all over the body, which on excision were found to be tuberous xanthomas. Investigations revealed the diagnosis of familial hypercholesterolemia. This case is reported to document the unusual presentation of giant tuberous xanthomas.

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Section: Discussionmentioning

confidence: 99%

Giant tuberous xanthomas in a case of type IIA hypercholesterolemia

Babu

Venkataram

Santhosh

et al. 2012

J Cutan Aesthet Surg

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“…[ 6 ] Association with pityriasis rubra pilaris has also been reported. [ 9 ] In our case, the patient showed normal lipid metabolism status and absence of any other systemic disorder or malignancy.…”

Section: Discussionmentioning

confidence: 55%

Firm skin-colored nodules on the scalp

et al. 2015

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“…Familial combined hypercholesterolemia is characterized by the finding of hypercholesterolemia and hypertriglyceridemia within the same kindred and with-kindred members having either one of these abnormalities or both. Patients of familial combined hyperlipoproteinemia type II b present with high plasma cholesterol, high plasma low density lipoprotein (LDL), moderately high plasma triglycerides, tendinous, tuberous and intertriginous xanthomas and xanthelasma palpebrarum [3].…”

Section: Discussionmentioning

confidence: 99%

A case report of familial combined hypercholesterolemia

Vaishnavi¹

2019

Our Dermatol Online

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Xanthomas are the characteristic cutaneous presentation in hyperlipoproteinemias. Familial combined hyperlipoproteinemia/type II b presents with high plasma cholesterol, high plasma low density lipoprotein (LDL) cholesterol, moderately high plasma triglycerides. Cutaneous findings include tendinous, tuberous and intertriginous xanthomas and xanthelasma palpebrarum. A 5 year old boy presented with multiple yellowish lesions over the joints, gluteal cleft, popliteal fossa. Family history of second degree consanguinity was present with hyperlipidaemia in father, mother and brother. Early diagnosis and treatment mitigate the excess risk of premature atherosclerotic cardiovascular disease that occurs with familial hypercholesterolemia.

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Familial combined hypercholesterolemia type II b presenting with tuberous xanthoma, tendinous xanthoma and pityriasis rubra pilaris-like lesions

Cited by 10 publications

References 0 publications

Giant tuberous xanthomas in a case of type IIA hypercholesterolemia

Giant tuberous xanthomas in a case of type IIA hypercholesterolemia

Firm skin-colored nodules on the scalp

A case report of familial combined hypercholesterolemia

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