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

Abstract

BackgroundEpidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance.Case presentationWe 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.ConclusionsIn 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.

Epidermodysplasia Verruciformis: A Rare Case Report

“…There are more than 30 EV-associated HPV types that have been recognized, including HPV5, HPV8, HPV12, HPV14, HPV15, HPV17, HPV19-HPV25, HPV36, HPV38, HPV47, and HPV50 [4]. Malignant transformations are primarily caused by HPV5 and HPV8 [9]. A young woman presented with a left infraorbital lesion that revealed squamous cell carcinoma [1].…”

“…Presently, acitretin 0.5-1 mg/day is the drug of choice [ 3 ]. Oral retinoids (0.5 mg/kg) used in two sisters with an autosomal recessive pattern showed that cutaneous lesions decreased in size after a short time but a relapse of the lesions occurred after one year [ 9 ]. A surgical approach, including electrosurgical removal and cryotherapy, is also used to manage benign and premalignant lesions [ 6 ].…”

A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency

“…Homozygous, invalidating mutations in either the TMC8 or TMC6 gene are found in approximately 75% of epidermodysplasia verruciformis patients and confer susceptibility to the disease ( Orth, 2006 , Ramoz et al., 1999 , Ramoz et al., 2002 ). Most patients demonstrate autosomal recessive patterns of inheritance, although some exhibit X-linked recessive or autosomal dominant inheritance ( Yoshida et al., 2014 ).…”

“…¥ Khalili et al., 2014 . £ Yoshida et al., 2014 . AD: autosome dominant; AR: autosome recessive; BuLoc: nucleotide changes; CAG: congenital agammaglobulinemia; DCFHR: deficiency in complement factor H-related protein; del: deletion; EDV: epidermodysplasia verruciformis; FreNor: mutation frequency in normal individuals; Het: heterozygote; Hom: homozygote; IFD: invasive fungal disease; Inh: inheritance; NoTra: number of transcripts; PID: primary immunodeficiency.…”

Epidermodysplasia verruciformis: report of two patients with autosomal dominant inheritance

“…A more aggressive course may occur in association with other risk factors, such as ultraviolet radiation [5,10]. Mental disorders, such as cognitive impairment, can be seen in about 10% of the cases [1,3,7,8].…”