Are You Confident of the Diagnosis?
What you should be alert for in the history
An asymptomatic, long-standing lesion, often found on mucosal surfaces (intraoral or genital), but may be seen cutaneously (Figure 1).
Characteristic findings on physical examination
On mucosal surfaces there are usually white papules and plaques. On cutaneous surfaces, verrucous papules and plaques on a pink base may be seen in conjunction with another primary inflammatory process (i.e. discoid lupus).
Expected results of diagnostic studies
Biopsy shows characteristic foamy macrophages in the papillary dermis underlying verrucous epidermal hyperplasia (Figure 2).
The diagnosis needs to differentiate from lichen planus, verrucous discoid lupus, psoriasis, cutaneous tuberculosis and verruca vulgaris.
Who is at Risk for Developing this Disease?
Verruciform xanthoma (VX) is rare with no racial or gender predilection. It may be seen in conjunction with the CHILD syndrome, discoid lupus, epidermal nevi, lichen planus or chronic lymphedema.
What is the Cause of the Disease?
Several theories on pathogenesis exist.
The first is that VX is secondary to chronic inflammation, with some authorities suggesting that localized lymphedema as an essential factor. Another is that VX is secondary to infection (HPV or bacterial). Studies have had conflicting evidence for HPV infection in VX samples. There is a solitary report of a patient who responded to treatment with antibacterial wash, which fueled the theory of bacterial pathogenesis.
Another theory is related to alterations in lipid metabolism or breakdown, with clinical reports of VX in patients with CHILD syndrome and a report of genetic mutations in the 3 beta hydroxysteroid dehydrogenase (NSDHL) gene in sporadic VX.
Systemic Implications and Complications
Patients are normolipemic. An ANA may be checked if there is concern the lesions are secondary to discoid lupus.
Topical – antibacterial washes
Electrodessication and curettage (ED&C)
Pulsed dye laser
Optimal Therapeutic Approach for this Disease
Therapy for VX is challenging. The modalities available have variable rates of success and often result in recurrence. Since the most effective therapies are often surgical or ablative, special consideration must be taken for location and extent of lesions, since scarring is likely. Observation and reassurance is the best option for patients, if they are amenable to this approach.
With limited lesions in a cosmetically acceptable area, surgical excision is the best next step, followed by other destructive modalities (laser ablation, ED&C). While use of antibacterial washes is a relatively benign intervention, there is scant literature to support its use and patients should be counseled accordingly. Pulsed dye laser treatments may be tried, although there is little evidence to speak to their efficacy, and cost may be a limiting factor.
There is no necessary follow-up for these patients. If treatment is successful, patients should not need therapy unless the lesions recur. As previously stated, it is very important to address the high rates of recurrence seen with all treatment modalities.
Unusual Clinical Scenarios to Consider in Patient Management
Oral verruciform xanthomas have been observed in patients with oral graft versus host disease. VXs may be seen in patients with dystrophic epidermolysis bullose. There may also be disseminated VXs occurring on cutaneous and mucosal surfaces.
What is the Evidence?
Cumberland, L, Dana, A, Fitzpatrck, J, Goldenberg, G. “Verruciform xanthoma in the setting of cutaneous trauma and chronic inflammation: report of a patient and brief review of the literature”. J Cut Pathol. 2009. pp. 1-6. (A rare case of multiple verruciform xanthomas in the perianal region.)
Yu, CH, Tsai, TC, Wang, JT, Liu, BY, Wang, YP, Sun, A. “Oral verruciform xanthoma: a clinicopathologic study of 15 cases”. J Formos Med Assoc. vol. 106. 2009. pp. 141-147. (Oral verruciform xanthomas usually appear in the fifth decade of life and most frequently affect the gingivae.)
Connolly, SB, Lewis, EJ, Lindholm, JS, Zelickson, BD, Zachary, CB, Tope, WD. “Management of cutaneous verruciform xanthoma”. J Am Acad Dermatol. vol. 42. 2000. pp. 343-347. (The report of a 62 year old man with a large verruciform xanthoma of the inguinal folds treated successfully by surgical excision.)
Wu, JJ, Wagner, AM. “Verruciform xanthoma in association with Milroy disease and leaky capillary syndrome”. Ped Dermatol. vol. 20. 2003. pp. 44-47. (The first reports of verruciform xanthoma associated in an 18 year old boy with Milroy's disease and a 12 year old girl with the leaky capillary syndrome.)
Mehra, S, Li, L, Fan, CY, Smoller, B, Morgan, M, Somach, S. “A novel somatic mutation of the 3B-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma”. Arch Dermatol. vol. 141. 2005. pp. 1263-1267. (Two of nine patients with verruciform xanthomas displayed a novel mutation of the NSDHL gene. Known mutations of exons 4 and 6 of the NSDHL gene observed in the CHILD syndrome do not contribute to the histogenesis of sporadic verruciform xanthomas.)
Sopena, J, Gamo, R, Iglesias, L, Rodriguez-Peralto, JL. “Disseminated verruciform xanthoma”. Br J Dermatol. vol. 151. 2004. pp. 717-719. (As most cases are solitary, this is a rare case of disseminated, multiple lesions involving the skin, oral mucosa, and genital mucosa in a 42 year old woman.)
Copyright © 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.
No sponsor or advertiser has participated in, approved or paid for the content provided by Decision Support in Medicine LLC. The Licensed Content is the property of and copyrighted by DSM.