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 Table of Contents  
Year : 2020  |  Volume : 7  |  Issue : 1  |  Page : 38-39

Multiple giant tuberous xanthomas with type IIa hypercholesteremia in a young male

Department of Dermatology, Acharya Shree Bhikshu Hospital, New Delhi, India

Date of Submission29-Mar-2020
Date of Decision06-Apr-2020
Date of Acceptance11-Apr-2020
Date of Web Publication02-Jun-2020

Correspondence Address:
Niharika Jha
Department of Dermatology, Acharya Shree Bhikshu Hospital, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijdpdd.ijdpdd_40_20

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How to cite this article:
Jha N, Narayan V. Multiple giant tuberous xanthomas with type IIa hypercholesteremia in a young male. Indian J Dermatopathol Diagn Dermatol 2020;7:38-9

How to cite this URL:
Jha N, Narayan V. Multiple giant tuberous xanthomas with type IIa hypercholesteremia in a young male. Indian J Dermatopathol Diagn Dermatol [serial online] 2020 [cited 2022 Aug 12];7:38-9. Available from: https://www.ijdpdd.com/text.asp?2020/7/1/38/285799


A 22-year-old male, born of a second-degree consanguineous marriage, presented to our dermatology outpatient department with complaints of asymptomatic raised lesions on the body for the past 11 years. The lesions first appeared on both the knees and gradually increased in size. Eventually, similar lesions appeared on both the elbows, wrists, and fingers. The patient gave a history of similar lesions in his younger brother. There was no history of sudden demise in his relatives. On examination, multiple, well-defined, firm, nontender, skin-colored, papulonodules were noticed on the elbows, wrists, knuckles, and knees. The lesions coalesced together to form annular plaques, ranging from size 1 cm2 to 10–15 cm2. Many lesions had a yellowish hue [Figure 1] and [Figure 2]. Yellowish papulonodules were noticed in the periorbital area. Arcus juvenilis was present in both the eyes [Figure 3]. Palms, soles, scalp, and oral mucosa were found to be normal on examination. A provisional diagnosis of tuberous xanthomas was made and the patient was investigated accordingly. Fasting lipid profile was deranged; total cholesterol (TC) – 655 mg/dl, triglycerides (TG) – 215 mg/dl, low-density lipoprotein (LDL) – 545 mg/dl, high-density lipoprotein (HDL) – 70 mg/dl, and very low density lipoprotein (VLDL) – 45 mg/dl (reference range: TC – 150–200 mg/dl, TG – 50–150 mg/dl, LDL – 80–150 mg/dl, HDL – 35–60 mg/dl, and VLDL – 10–30 mg/dl). Other routine blood investigations were within normal limits. Biopsy report showed a diffuse dense nodular infiltrate of foamy histiocytes involving the whole of dermis; foamy histiocytes showed abundant pale foamy cytoplasm and a small centrally located nucleus, which confirmed the diagnosis of tuberous xanthomas [Figure 4] and [Figure 5]. Electrocardiogram showed ST depression in leads II, III, aVF, and bradycardia. A final diagnosis of tuberous xanthomas with type IIa hypercholesteremia was made. The patient was referred to a cardiologist. He was advised lifestyle modifications and weight reduction and was started on tablet atorvastatin 10 mg HS and tablet fenofibrate 120 mg HS. He was urged to get other family members for examination and investigations.
Figure 1: Skin-colored papules, plaques, and nodules with a yellowish hue over the wrist, dorsum of the hands, and knuckles

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Figure 2: Giant tuberous xanthoma over the elbow

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Figure 3: Arcus juvenilis in bilateral eyes

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Figure 4: Diffuse dense nodular infiltrate of foamy histiocytes involving the whole of the dermis (H and E, ×100)

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Figure 5: Foamy histiocytes show abundant pale foamy cytoplasm and a small centrally located nucleus (H and E, ×400)

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Xanthomas are collection of lipid-rich macrophages (foam cells). They can present as eruptive, tendinous, tuberous, tuberoeruptive, verrucous, planar, and papular forms. Tendinous type is the most common type of xanthomas (40%–50%), followed by xanthelasma (23%) and tuberous xanthomas (10%–15%).[1] Plane xanthomas are rare form of xanthomas. Tuberous xanthomas usually develop in pressure areas such as extensor surfaces of elbows, knees and buttocks. In our case, also, the initial lesions appeared at the pressure points. Xanthomas are cutaneous markers of underlying lipid metabolism disorders. Frederickson has divided lipid metabolism disorders into five types. Remarkable associations have been seen with each type of xanthomas and elevation of a particular lipoprotein and associated genetic disorder.[2] Tuberous xanthomas are usually associated with type IIa hypercholesteremia.[3],[4] Familial hypercholesteremia is an autosomal codominant disorder in which LDL levels are increased due to increased production and decreased resorption of LDL secondary to dysfunctional LDL receptors. Early diagnosis and treatment of this disease can prevent development of early coronary artery disease. The family members of the patient should also be screened for hypercholesteremia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Bansal M, Manchanda K, Pandey SS. Familial type II a hyperlipoproteinemia presenting with different types of xanthomas. Indian J Paediatr Dermatol 2014;15:39-41.  Back to cited text no. 1
  [Full text]  
Vora RV, Kota RS, Surti NK, Singhal RR. Extensive giant tuberous xanthomas in a 12-year-old boy. Indian Dermatol Online J 2017;8:145-6.  Back to cited text no. 2
[PUBMED]  [Full text]  
Cruz PD Jr., East C, Bergstresser PR. Dermal, subcutaneous, and tendon xanthomas: Diagnostic markers for specific lipoprotein disorders. J Am Acad Dermatol 1988;19:95-111.  Back to cited text no. 3
Bhagwat PV, Tophakhane RS, Kudligi C, Noronha TM, Thirunavukkarasu A. Familial combined hypercholesterolemia type IIb presenting with tuberous xanthoma, tendinous xanthoma and pityriasis rubra pilaris-like lesions. Indian J Dermatol Venereol Leprol 2010;76:293-6.  Back to cited text no. 4
[PUBMED]  [Full text]  


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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