Successful treatment of epidermodysplasia verruciformis with a combination of 5-aminolevulinic acid photodynamic therapy and surgery.

Epidermodysplasia verruciformis (EV) is a rare inherited immune disease characterized by pityriasis versicolor-like macules, hyperpigmented or hypopigmented warty papules and irregular reddish-brown plaques, mainly on the face, neck and extremities. Some therapeutic options include medications, lifestyle changes, ALA-PDT, surgery and so on. But there is no cure for EV and thus the clinical management is challenging. We report a case of EV that was refractory to multiple therapies and achieved an encouraging result with a combination therapy of surgery and 5-aminolevulinic acid photodynamic therapy (ALA-PDT).

Acquired epidermodysplasia verruciformis: clinical presentation and treatment update.

Acquired epidermodysplasia verruciformis (AEV) is a form of epidermodysplasia verruciformis (EV) that is most commonly found in immunocompromised or immunosuppressed patients. EV is commonly associated with human papillomavirus (HPV), which is often found in EV and AEV lesions. Clinical presentation of AEV in patients with organ transplantation, HIV+, congenital HIV+, hematological diseases, and other iatrogenic immunosuppression are reviewed. Treatment options include topical cidofovir, topical retinoids, topical imiquimod, topical glycolic acid, HPV 9-valent vaccine, acitretin, improving cellular immunity, and changing transplant medication to mycophenolate mofetil.

ALA-PDT successfully treated multiple cSCC in situ and AK in a patient with Epidermodysplasia verruciformis.

5-aminolaevulinic acid photodynamic therapy (ALA-PDT) has emerged as a non-invasive treatment modality for premalignant and malignant skin lesions. It has the advantage of better tolerance and providing better cosmetic outcomes than conventional treatment methods. Herein, we report a patient who suffered from multiple cutaneous squamous cell carcinoma (cSCC) in situ and actinic keratosis (AK) scattered in the body's sun-exposed areas, which had led him to undergo multiple surgical resections since the age of 16. Next-generation sequencing-based on a targeted gene capture panel revealed compound heterozygous mutations c.G559A and c.G1389A in the TMC8 gene. Combined with the typical clinical manifestations and mutation analysis, the patient was diagnosed with Epidermodysplasia verruciformis (EV). Due to the multiple AK and cSCC in situ lesions, ALA-PDT was applied. After 8 courses of ALA-PDT all lesions were successfully cleared without causing any scarring. Therefore, the use of ALA-PDT treatment may constitute a very promising and effective therapeutic modality for multiple cSCC in situ and AK secondary to EV.

Successful treatment of upper-left eyelid squamous cell carcinoma in an epidermodysplasia verruciformis patient by ALA-PDT/holmium laser combination therapy.

Epidermodysplasia verruciformis (EV) is a rare autosomal recessive disorder. Individuals with EV are more susceptible to the development of cutaneous neoplasia in sun-exposed regions. This disease should be closely observed for cutaneous squamous cell carcinoma (cSCC) or pre-cancerous lesions - if neoplasia is found, it should be removed. A 68-year-old woman with EV had a post-operative recurrent, invasive cSCC growing on her upper-left eyelid. Although the standard treatment for cSCC is surgical excision, it is challenging to reach the deepest regions. Herein, we reported a case of a recurrent, invasive cSCC effectively treated by a combination of non-invasive 5-aminolevulinic acid-mediated photodynamic therapy (ALA-PDT) and deep-penetrative holmium laser. The results were satisfactory without any adverse effects to the patient.

Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant.

ABSTRACT: Epidermodysplasia verruciformis (EV) is a rare dermatologic condition that is clinically characterized by flat, cutaneous, verrucous papules, pityriasis versicolor-like lesions, and similar lichenoid papules. There are 2 forms of EV: a classic inherited genodermatosis and a secondary acquired form. EV predisposes individuals to infections with certain types of human papillomavirus virus and subsequently increases the risk of cutaneous squamous cell carcinoma. The acquired form occurs in immunosuppressed patients, particularly in patients infected with HIV; however, it has also been described in patients who have undergone stem cell and solid organ transplantation. We report an additional case of renal transplantation and immunosuppressive therapy-associated acquired EV (AEV) in a 78-year-old man with multiple flesh-colored to violaceous, flat-topped papules distributed on the face and trunk clinically mimicking lichen planus. Biopsy was typical for that of EV, demonstrating enlarged keratinocytes with a blue-gray cytoplasm, a thickened granular layer, acanthosis, and hyperkeratosis. Herein, we discuss an unusual presentation of an AEV-mimicking lichen planus with review of the literature.

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe a novel association of a homozygous ITK mutation with ß-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including ß-HPV and EBV.

[Epidermodysplasia verruciformis: about a case]. / Epidermodysplasie verruciforme: à propos d'un cas.

Epidermodysplasia verruciformis, also known as Lewandowsky-Lutz syndrome or tree man disease is a rare genetic skin disorder. It is characterized by abnormal susceptibility of the skin coating to human papillomaviruses (HPVs). It commonly affects people between the ages of 4 and 8, most often before the age of 20 years but it may exceptionally occur later. It is characterized by the appearance of scaly macules and sometimes exuberant pseudotumoral papules, mainly on hands and feet. HPV 5 and HPV-8 have been characterized in these lesions, viruses that are found in about 80% of the normal population. Other HPV types can sometimes be identified. Felix Lewandowskyand-Wilhelm Lutz provided the first clinical description of this disorder. The most frequently observed skin lesion is a macular rash similar to that of pityriasis versicolor associated with verrucous scaly papules. The risk of malignant transformation to squamous cell carcinoma is high. Several treatments have been tried (retinoids, interferon, cimetidine) with little or non-repeatable success. Sun protection, assiduous clinical monitoring and early excision of any lesion undergoing malignang transformation are essential. We report the case of a 30 year old man presenting with multiple verrucous lesions on limbs and trunk occurred at the age of 4 years associated with pityriasis versicolor-like lesions. Clinical examination didn't show suspicious lesions and retinoid therapy was started.

[Low-dose prophylactic oral isotretinoin treatment for 18 years in a patient with epidermodysplasia verruciformis and numerous squamous cell carcinomas]. / Niedrig dosierte prophylaktische orale Therapie mit Isotretinoin über 18 Jahre bei einer Patientin mit Epidermodysplasia verruciformis und zahlreichen Plattenepithelkarzinomen.

Epidermodysplasia verruciformis (also known as Lewandowsky-Lutz dysplasia) is an extremely rare autosomal recessive genodermatosis, in which the skin is unusually sensitive to human papilloma viruses (HPV). It is associated with a high risk of developing non-melanocytic skin tumors. Treatment with keratolytic retinoids is currently considered to be the most effective therapy. Retinoids have a broad spectrum of activity and inhibit the growth of squamous cell carcinoma and other malignant tumors. We report the case of an 81-year-old woman who had been receiving prophylactic treatment with oral isotretinoin at a daily dose of 1.0-0.33 mg/kg bodyweight for about 18 years because of her epidermodysplasia verruciformis (HPV types 9 & 57 detected). We observed a reduction of the incidence of squamous cell carcinomas of the skin and presume a causal relationship between the treatment with this retinoid and the reduction of squamous cell carcinomas of the skin in this patient.

Treatment of Imiquimod Resistant Epidermodysplasia Verruciformis With Ingenol Mebutate.

BACKGROUND: Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by widespread human papillomavirus (HPV) associated lesions and an increase susceptibility to cutaneous malignancies. A host of medications traditionally used to treat warty lesions have been used with variable results and limited success. To our knowledge, we describe the first reported case of a patient with Imiquimod resistant EV successfully treated with topical ingenol mebutate (Picato). CASE: A patient with a 5 year history of EV failed to respond to a 6 week course of 5% imiquimod on the forehead and was subsequently treated with a 3 day course of 0.015% Picato gel which resulted in significant clinical improvement. A one month follow-up examination showed no reoccurrence of the lesions with the patient reporting continued satisfaction of the outcome. CONCLUSION: Our case provides insight into the potential use of ingenol mebutate for EV patients unresponsive to traditional medical treatments.

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report.

BACKGROUND: Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance. CASE PRESENTATION: We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indicated the presence of human papillomavirus type 5 in the lesions. Electron microscopic examination showed viral-like particles in keratinocyte nuclei and the stratum corneum of the epidermodysplasia verruciformis lesions. In addition, we examined the EVER1 and EVER2 genes using eight different primer pairs without finding any nonsense or frameshift mutations in the gDNA from lymphocytes of the elder sister. CONCLUSIONS: In this report, the patient's parents did not have epidermodysplasia verruciformis lesions or a consanguineous marriage. EV did not develop in the elder sister until five years of age, so the parents did not perceive EV as an inherited disease. The probability that EV developed in both sisters was only 6.25%. Thus, it is rare for both sisters to develop epidermodysplasia verruciformis lesions considering that the parents were presumed to be carriers and the disease reveal an autosomal recessive pattern of inheritance.

Acquired epidermodysplasia verruciformis in a child with atopic dermatitis.

A 4-year-old girl with an established diagnosis of atopic dermatitis, previously severe and treated with cyclosporine, developed widespread papules that demonstrated changes consistent with epidermodysplasia verruciformis on biopsy. Human papilloma virus (HPV) typing was performed and was consistent with epidermodysplasia verruciformis-type HPV (type 5). These lesions rapidly resolved with a 2-week course of imiquimod. Rapid resolution and no family history of epidermodysplasia verruciformis make this most consistent with acquired epidermodysplasia verruciformis. This case is the first reported case of acquired epidermodysplasia verruciformis in a child without the human immunodeficiency virus and may be linked to cyclosporine use, which also has never been previously reported.

Sustained clinical resolution of acquired epidermodysplasia verruciformis in an immunocompromised patient after discontinuation of oral acitretin with topical imiquimod.

Increased cases of acquired epidermodysplasia verruciformis (EDV) have been reported in patients with human immunodeficiency virus (HIV). With regard to management, there are no randomized controlled trials in either immunocompetent or immunocompromised patients, and only a limited number of anecdotal treatment options. Systemic retinoids, either independently or in combination with other treatment modalities, have been used with limited success, demonstrating transient clinical response and recurrence of lesions after cessation of therapy. We report a case of an HIV-positive patient with acquired EDV who achieved sustained clinical resolution even after discontinuation of oral acitretin by applying topical imiquimod to prevent recurrence of his lesions.