An Unusual Case of Hand Xanthomatosis

Huri, Gazi; Joachim, Noah

doi:10.1155/2013/183018

Cited by 5 publications

(7 citation statements)

References 7 publications

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“…Tendinous xanthomas most commonly develop on the Achilles tendon, patella, and hand. Therefore, tendinous xanthomas can be confused with other growths such as rheumatoid nodules, giant cell tumors of the tendon sheath, ganglions, and sarcomas with xanthomatous changes [ 4 ]. In patients with multiple nodules, the disease may resemble Langerhans cell histiocytosis or neurofibromatosis [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…In patients with multiple nodules, the disease may resemble Langerhans cell histiocytosis or neurofibromatosis [ 10 ]. Histologically, tendinous xanthomas differ from giant cell tumors due to a lack of round cells and a paucity of the multinucleated giant cells [ 4 ]. Sarcoma with xanthomatous changes can be distinguished by careful attention to the presence of atypical mitotic figures, osteoblastic, chondroblastic or fibroblastic extracellular matrix, and pleomorphic and hyperchromatic nuclei on biopsy [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…These slow-growing nodules are firm and mobile and can present with a yellowish hue [ 2 ]. As the nodules enlarge, they can cause pain, restricted joint mobility, disability, and tendon rupture [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

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An Unusual Case of Multiple Tendinous Xanthomas Involving the Extremities and the Ears

et al. 2015

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Tendinous and subcutaneous xanthomas are nodular deposits of lipid-filled macrophages, which commonly form on the Achilles tendon, hands, feet, elbows, and knees. These nodules are frequently associated with familial hyperlipidemia, a group of diseases involving impaired cholesterol metabolism, and the accelerated development of atherosclerotic plaques. Since xanthomas may precede the diagnosis of hyperlipidemia, early identification can lead to preventative treatment that reduces the risk and morbidity of cardiovascular disease, including myocardial infarction. This case report presents a 43-year-old African-American male with multiple xanthomas involving the Achilles tendon, soles, hands, knees, elbows, and is associated with the unusual involvement of the ear.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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An Unusual Case of Multiple Tendinous Xanthomas Involving the Extremities and the Ears

et al. 2015

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“…Xanthoma may also may manifest as cutaneous xanthoma tuberosum. Tendinous xanthomas may be confused with other growths such as rheumatoid nodules, giant tendon sheath cell tumours, ganglia and sarcomas with xanthomatous changes [14]. In patients with multiple nodules, the disease may resemble Langerhans cell histiocytosis or neurofibromatosis [15].…”

Section: Introductionmentioning

confidence: 99%

“…Histologically, tendinous xanthoma differ from giant cell tumours due to a lack of round cells and a paucity of the multinucleated giant cells [14]. Tendinous xanthoma may also be underdiagnosed and undertreated.…”

Section: Introductionmentioning

confidence: 99%

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners

Alnouri

Al-Allaf

Athar

et al. 2020

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Background: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder and results in the development of coronary artery disease (CAD). Clinical diagnosis of homozygous HH patients is usually straightforward because persistent hypercholesterolemia can produce xanthoma and corneal arcus. However, xanthoma may also be misdiagnosed as skin lesions and could therefore be mistreated. The aim of this case study report is to highlight the plight of patients with FH as means of raising awareness of the condition among dermatologists and health care practitioners, also to determine the genotype-phenotype correlation in severely affected homozygous FH proband patients. Methods: Genetic screening of FH associated genes was performed by Ion Torrent next-generation sequencing and cascade screening by capillary sequencing. Results: We present two clinical cases with prominent skin lesions seen in a dermatology clinic that were referred to plastic surgery for excision. Genetic testing was performed later, and confirmed common single nucleotide deletion variant (c.2027delG) in the LDLR alleles consequent to a frameshift mutation p.(G676Afs*33). In addition to the LDLR variant, two possibly damaging APOB variants p.(L3313I) and p.(L1212M) and three damaging variants p.(R19*), p.(G83Q) and p.(S474*) in APOC3, PON2 and LPL genes respectively were identified. The PON2 gene variant p.(G83Q) was found to be novel, while others have been previously reported. Both patients were refractory to pharmacological therapies and are currently on lipoprotein apheresis (LA). Conclusions: The present report indicates the need for increased awareness of FH, among the public and healthcare practitioners and supports the need for diagnostic screening and cascade genetic testing of this high-risk condition, which could ultimately lead to better prevention of CHD in this lethal condition.

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