Epidermodysplasia verruciformis is a rare genetic disease of cell-mediated immunity that develops due to of mutations involving the EVER1 and EVER2 genes on chromosome 17, but X-linked inheritance has also been described. These mutations lead to a life-long predisposition to cutaneous infections by human papillomavirus (HPV). Pityriasis versicolor-like macules and wart-like papules are typical lesions that develop on the upper extremities, the trunk, the neck, and the head. In a significant number of cases, these lesions transform into nonmelanotic cancers. The diagnosis rests on clinical criteria and a histopathological examination that detects distinctive features.
Presentation
The first signs of epidermodysplasia verruciformis are encountered in early childhood when the cell-mediated immunity cannot effectively fight against HPV [1] [2] [3] [4] [5] [6]. The hallmark of this condition is the appearance of macules strikingly similar to those seen in pityriasis versicolor (commonly known as Tinea) [1] [3]. They are flat, hyperpigmented, and exhibit scaling [1] [3]. The upper extremities, the trunk, and the head and neck area are the sites where macule appear [1] [3]. A wart-like papule is also a frequent cutaneous manifestation [1] [3]. Both lesions pose a marked risk for the patient due to their ability to transform into malignant tumors [1] [3]. Approximately 20-30 years is necessary for these lesions to convert into a malignant tumor and most commonly identified types are Bowen's disease and invasive squamous cell carcinoma [1] [2] [3]. Tumors develop on sun-exposed skin (the forehead is observed as the predominant location) and it is thought that prolonged exposure to ultraviolet light promotes the transformation of benign lesions into a malignant variant [1]. Fortunately, metastatic spread of neoplasias is very rare [1]. In addition to macules and warts, other notable cutaneous features are plaques that resemble seborrheic keratosis, whereas mucous membranes remain intact [1] [6]. Despite the known genetic background of epidermodysplasia verruciformis, several studies have used the term "acquired epidermodysplasia verruciformis" to illustrate the occurrence of this condition in patients who are immunocompromised from other conditions [3] [6]. Furthermore, psoriasis and human immunodeficiency virus (HIV) infection have even associated with this cutaneous disorder [3] [6].
Entire Body System
- Increased Susceptibility to Infections
TEXT Epidermodysplasia verruciformis (EV) is a rare primary immunodeficiency, and EV patients have an increased susceptibility to infection with human betapapillomaviruses (beta HPVs) ( 1, 2 ). [jvi.asm.org]
Respiratoric
- Hoarseness
A 3-year-old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. [ncbi.nlm.nih.gov]
Gastrointestinal
- Failure to Thrive
As an infant, the patient had failure to thrive and a combined immunodeficiency, but was lost to follow-up for 15 years. He currently continues to have severe hypogammaglobinemia and cellular immunodeficiency. [ncbi.nlm.nih.gov]
Skin
- Darkly Pigmented Skin
We performed HPV typing of biopsied cysts with polymerase chain reaction for a patient with darkly-pigmented skin, epidermodysplasia verruciformis (EV) and more than 250 photodistributed cysts. [ncbi.nlm.nih.gov]
Workup
Although epidermodysplasia verruciformis is very rarely encountered in the general population, a presumptive diagnosis can be made solely on clinical criteria. For this reason, it is necessary to perform a detailed physical examination and obtain a thorough patient history. During the examination, the typical localization of lesions, their appearance, and characteristics may significantly narrow the differential diagnosis. Conversely, the onset of cutaneous lesions and the presence of similar complaints in parents or close relatives should be covered during the interview. As soon as clinical criteria are met, examination with a dermatoscope and subsequent histopathological studies should be sought [1] [6]. Enlarged keratinocytes with a pale blue cytoplasm in stratum spinosum is a somewhat specific findings in epidermodysplasia verruciformis, while the presence of keratohyalin granules in stratum granulosum and parakeratosis of stratum corneum may also be noted [1]. A definitive diagnosis is made if mutation of EVER1 and EVER2 genes on chromosome 17 are identified, with up to 75% of patients yielding a positive result [1].
Serum
- Antinuclear Autoantibodies
This progressed to a lupuslike syndrome with lichenoid, violaceous, flat-topped papules in a malar distribution and positive antinuclear autoantibodies. [ncbi.nlm.nih.gov]
References
- Emsen IM, Kabalar ME. Epidermodysplasia verruciformis: An early and unusual presentation. Can J Plast Surg. 2010;18(1):21-24.
- McDermott DH, Gammon B, Snijders PJ, et al. Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. Pediatr Dermatol. 2009;26(3):306-310.
- Rogers HD, Macgregor JL, Nord KM, et al. Acquired epidermodysplasia verruciformis. J Am Acad Dermatol. 2009;60(2):315-320.
- Gül U, Kiliç A, Gönül M, Cakmak SK, Bayis SS. Clinical aspects of epidermodysplasia verruciformis and review of the literature. Int J Dermatol. 2007;46(10):1069-1072.
- Sá NB, Guerini MB, Barbato MT, Di Giunta G, Nunes DH. Epidermodysplasia verruciformis: clinical presentation with varied forms of lesions. An Bras Dermatol. 2011;86(4 Suppl 1):S57-60.
- Segura S, Carrera C, Ferrando J, et al. Dermoscopy in epidermodysplasia verruciformis. Dermatol Surg. 2006;32(1):103-106.