|Year : 2014 | Volume
| Issue : 1 | Page : 39-41
Familial type IIa hyperlipoproteinemia presenting with different types of xanthomas
Manish Bansal, Kajal Manchanda, SS Pandey
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
|Date of Web Publication||2-May-2014|
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
A 12-year-old non-obese male presented with multiple yellowish, non-tender soft papulonodular lesions over multiple sites along with firm, subcutaneous swellings along achilles tendons bilaterally since the age of 2 years. There was no history of similar complaints in family. Lipid profile revealed high levels of serum cholesterol and low density lipoproteins. Histopathological examination revealed diffuse dermal infiltrate of foamy histiocytes. He was diagnosed as a case of Type IIa hyperlipoproteinemia with different types of xanthomas. The patient was adviced dietary fat intake control and started on tablet atorvastatin 40 mg daily. Complete work up of all the other family members was adviced.
Keywords: Familial, hypercholesterolemia, xanthoma
|How to cite this article:|
Bansal M, Manchanda K, Pandey S S. Familial type IIa hyperlipoproteinemia presenting with different types of xanthomas. Indian J Paediatr Dermatol 2014;15:39-41
|How to cite this URL:|
Bansal M, Manchanda K, Pandey S S. Familial type IIa hyperlipoproteinemia presenting with different types of xanthomas. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Feb 23];15:39-41. Available from: http://www.ijpd.in/text.asp?2014/15/1/39/131841
| Introduction|| |
Xanthomas are commonly caused by altered lipoprotein metabolism. , They indicate a systemic alteration in the metabolism of cholesterol and trigylcerides and are usually of great cosmetic concerns to the patient. They indicate a more severe form of hyperlipidemia when observed during childhood or adolescence.  We hereby report a rare case of a 12-year-old male presenting with tuberous, planar and tendinous xanthomas associated with dyslipidemia.
| Case report|| |
A 12-year-old non-obese male child born of a non-consanguineous marriage presented with complaints of multiple asymptomatic raised lesions over the body since the age of 2 years. Lesions were initially noticed as small lesions over buttocks and they gradually increased in size and number and involved other body parts also. There was no history of similar lesion in any of the other family members. There was no history suggestive of systemic involvement. There was no history suggestive of myocardial infarction or stroke at a younger age in any of the family members. On examination, there were multiple, yellowish, non-tender, smooth surfaced soft papules and nodules ranging from 0.5 to 4 cm in diameter distributed symmetrically over buttocks, elbows, knee, forearms, legs and back. The lesions were rather flat near the palpebral area. Multiple, asymptomatic, firm, smooth subcutaneous swellings along the achilles tendons on both the sides and on medial aspect of bilateral great toes were also present [Figure 1]. Arcus juvenilis was present in bilateral eyes. Slit lamp examination and fundus examination was normal. Routine hematological investigations including complete blood counts, liver and renal function tests, blood sugar, thyroid profile, chest radiographs and urine examination were within normal limits. Lipid profile revealed total serum cholesterol of 352 mg/dl, triglycerides 75 mg/dl, low density lipoproteins (LDL) of 284 mg/dl, high density lipoproteins of 31 mg/dl, very LDL of 14.9 mg/dl. The electrocardiogram showed the findings suggestive of left ventricular hypertrophy. Histopathological examination of biopsy sample from the popular lesion over left elbow showed normal epidermis with diffuse dense infiltrate of foamy histiocytes involving whole of the dermis. Small amount of extracellular fat was also seen. The foamy histiocytes showed abundant pale foamy cytoplasm and a small centrally located nucleus [Figure 2]. Fine needle aspiration cytology done from the swelling over the right achilles tendon revealed fair number of foamy macrophages.
|Figure 1: (a) Well defined yellowish plaques in the periorbital area (b) Well defined yellowish nodules and plaques over buttocks (c) Multiple well defines nodules and plaques over bilateral knee (d) well defined nodules over medial and lateral aspects of bilateral feet|
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|Figure 2: Biopsy from a papular lesion over elbow showed diffuse dense infiltrate of foamy histiocytes involving whole of the dermis (H and E, ×40)|
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The diagnosis was thus established as a case of tubero-eruptive xanthomatosis with Type IIa hyperlipidemia. The patient was adviced strict dietary control regarding the intake of fats and started on tablet atorvastatin 40 mg daily at bed time. Complete lipid profile along with other relavent investigations were advised for the remaining family members as the condition is usually familial and may not clinically present with xanthoma.
| Discussion|| |
Xanthomas are plaques or nodules consisting of abnormal lipid deposition and foam cells. They do not represent a disease but rather are symptoms of different lipoprotein disorders or arise without an underlying metabolic effect [Table 1].  Type I and Type IIa are familial and usually present in childhood.  Xanthomas are clinically classified as eruptive, tuberoeruptive or tuberous, tendinous or planar. Planar xanthomas include xanthelasma palpebrarum/xanthelasma, xanthoma striatum palmare, and intertriginous xanthomas. Eruptive xanthomata are multiple, reddish-yellow papules that appear suddenly and are arranged in crops on the extensor surface of the extremities and the buttocks. Tuberous xanthomata are nodules that are frequently localized to the extensor surfaces of the elbows, knees, knuckles and buttocks. Tendinous xanthomata are firm subcutaneous nodules found in fascia, ligaments, achilles tendons or extensor tendons of the hands, knees and elbows.  Tendinous xanthomas (40-50% cases) and xanthelasma (23%) are most common, with tuberous xanthomas in 10-15% and intertriginous plane xanthomas occurring occasionally.  Histopathology is characteristic showing foam cells, which are macrophages containing lipid. Along with foam cells, eruptive xanthomata often consist of lymphoid cells, histiocytes, neutrophils, and free lipid in the dermis. Tuberous xanthomata reveal foam cells and cholesterol clefts. Tendon xanthomata are histo-pathologically similar to tuberous xanthomata, however, xanthelasmata can be differentiated by their superficial location. Along with the foam cells, xanthelasma may reveal striated muscle, vellus hair, and/or a thinned epidermis, indicative of the superficial location.  When these xanthomas occur in children and adolescents, a more severe form of hyperlipidemia should be suspected. Early diagnosis and treatment may help in preventing the development of early coronary artery disease and pancreatitis. 
| Conclusion|| |
The patient described here was rare as he was non-obese with co-existence of various morphological types of xanthomas, i.e., tuberous, tendinous and planar xanthomas associated with hyperlipoproteinemia. Screening of all other family members was advised even none of the family members had any lesions of xanthoma. We conclude that xanthomas in any clinical presentation act as a marker for the underlying lipid abnormality which should be diagnosed and managed as early as possible to decrease the risk of coronary artery disease and pancreatitis.
| References|| |
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|2.||Parker F. Xanthomas and hyperlipidemias. J Am Acad Dermatol 1985;13:1-30. |
|3.||White LE. Xanthomatoses and lipoprotein disorder. In: Fitzpatrick TB, Wolff K, Goldsmith AL, Gilchrest AB, Paller SA, Leffell JD, editors. Dermtology in General Medicine. 7 th ed. New York, NY: McGraw-Hill; 2008. p. 1272-81. |
|4.||Pandhi D, Grover C, Reddy BS. Type IIa hyperlipoproteinemia manifesting with different types of cutaneous xanthomas. Indian Pediatr 2001;38:550-3. |
[Figure 1], [Figure 2]