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Journal of Cutaneous Pathology Jan 2023Epidermodysplasia verruciformis (EDV) is a rare genodermatosis that predisposes individuals to persistent infection with β-human papillomavirus (HPV) genotypes. The...
Epidermodysplasia verruciformis (EDV) is a rare genodermatosis that predisposes individuals to persistent infection with β-human papillomavirus (HPV) genotypes. The term EDV acanthoma may be applied to lesions with incidental findings of EDV-defining histopathological features without clinical signs of EDV. We report a case of HPV-14- and -21-positive EDV acanthoma arising in association with condyloma in a female patient with a history of low-grade squamous intraepithelial lesion of the cervix positive for high-risk HPV (non-16/18), chronic kidney disease, and systemic lupus erythematosus. The patient had no family or personal history of EDV, but the patient was on immunosuppressive therapy with mycophenolate mofetil and prednisone. A biopsy specimen from one of the perianal lesions revealed histopathologic changes consistent with EDV in the setting of condyloma. Molecular testing showed HPV-14 and -21, which supported the coexistence of condyloma with EDV acanthoma.
Topics: Humans; Female; Acanthoma; Human Papillomavirus Viruses; Epidermodysplasia Verruciformis; Papillomavirus Infections; Condylomata Acuminata; Papillomaviridae; Skin Neoplasms
PubMed: 36039682
DOI: 10.1111/cup.14319 -
Journal of Cutaneous Pathology Jun 2020Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic...
BACKGROUND
Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK-associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in KRT10, KRT1, or KRT2 found in these inherited dermatoses, none have yet been identified. Herein, we aim to identify the contributions of keratin mutations to EA.
METHODS
Using genomic DNA extracted from paraffin-embedded samples from departmental archives, we evaluated a discovery cohort using whole-exome sequencing (WES) and assessed remaining samples using Sanger sequencing screening and restriction fragment length polymorphism (RFLP) analysis.
RESULTS
DNA from 16/20 cases in our sample was of sufficient quality for polymerase chain reaction amplification. WES of genomic DNA from lesional tissue revealed KRT10 c.466C > T, p.Arg156Cys mutations in 2/3 samples submitted for examination. RFLP analysis of these samples as well as eight additional samples confirmed the mutations identified via WES and identified four additional cases with Arg156 mutations. In sum, 6/11 screened cases showed hotspot mutation in KRT10.
CONCLUSIONS
Hotspot mutations in the Arg156 position of KRT10, known to cause epidermolytic ichthyosis, also underlie EA.
Topics: Acanthoma; Adult; Aged; Aged, 80 and over; Female; Genomics; Humans; Hyperkeratosis, Epidermolytic; Ichthyosis Bullosa of Siemens; Keratin-10; Keratins; Male; Middle Aged; Mutation; Skin Neoplasms; Exome Sequencing
PubMed: 32045015
DOI: 10.1111/cup.13664 -
JAAD Case Reports Jan 2020
PubMed: 31890829
DOI: 10.1016/j.jdcr.2019.10.028 -
Photodermatology, Photoimmunology &... Nov 2023
Review
Topics: Humans; Acanthoma; Dermoscopy; Skin Neoplasms
PubMed: 37587661
DOI: 10.1111/phpp.12906 -
Actas Dermo-sifiliograficas Sep 2023Clear cell acanthoma (CCA) is an uncommon lesion histologically characterized by the presence of epidermal acanthosis with keratinocytes containing clear cytoplasm....
BACKGROUND AND OBJECTIVE
Clear cell acanthoma (CCA) is an uncommon lesion histologically characterized by the presence of epidermal acanthosis with keratinocytes containing clear cytoplasm. Although many single cases of CCA have been described, few case series have been published. The aim of this study was to describe the clinical characteristics of CCA in our practice setting.
MATERIAL AND METHODS
Retrospective study of patients diagnosed with CCA at Hospital Universitario de Bellvitge in Barcelona, Spain, between 1995 and 2021. We conducted a chart review to record age, sex, number and location of lesions, diameter, time since onset, clinical characteristics, suspected clinical diagnosis, and treatment.
RESULTS
Seventy patients (30 women and 40 men) with a mean (SD) age of 62 (13) years were diagnosed with CCA during the study period. Median (interquartile range) time since onset was 2 (4) years and median lesion diameter was 6 (5) mm. One woman had multiple lesions. Lesions were located on the lower extremities in 57 patients (81%), the posterior aspect of the trunk in 8 (11%), the anterior aspect of the trunk in 4 (5%), and the upper extremities in 1 (1%). CCA was clinically suspected in 40% of patients seen by dermatologists.
CONCLUSIONS
CCA presents as an erythematous, dome-shaped lesion with pinpoint vessels and an epidermal collarette. The accuracy of clinical diagnosis has improved relative to earlier series, possibly due to a better clinical understanding of this lesion and a greater use of dermoscopy.
Topics: Male; Humans; Female; Middle Aged; Acanthoma; Skin Neoplasms; Retrospective Studies; Keratinocytes; Dermoscopy
PubMed: 37127205
DOI: 10.1016/j.ad.2023.04.028 -
JAMA Otolaryngology-- Head & Neck... Aug 2020
Topics: Acanthoma; Biopsy; Humans; Male; Melanocytes; Middle Aged; Palatal Neoplasms; Palate, Hard
PubMed: 32584378
DOI: 10.1001/jamaoto.2020.1268 -
Dermatology Practical & Conceptual Jan 2024
PubMed: 38364387
DOI: 10.5826/dpc.1401a70 -
Head and Neck Pathology Jun 2020Clear cell acanthoma (CCA), also known as pale cell acanthoma, represents a rare benign epidermal tumor with strong predilection for the lower extremities of middle-aged...
Clear cell acanthoma (CCA), also known as pale cell acanthoma, represents a rare benign epidermal tumor with strong predilection for the lower extremities of middle-aged individuals and no frank gender preference. The etiology of CCA is poorly understood, although a localized psoriasiform reaction is favored. Herein, we report on the clinicopathologic and immunohistochemical features, and HPV status of an apparent example of oral CCA. A 58-year-old female presented with a well-circumscribed, asymptomatic, exophytic, sessile and erythematous nodule of the right hard palate, measuring 0.7 cm in greatest dimension. Microscopically, the lesion featured parakeratosis and acanthosis with neutrophilic microabscesses and broad elongated rete pegs. In areas, spinous epithelial cells exhibited pale or clear cytoplasm without nuclear pleomorphism, mitoses or cytologic atypia. The supporting connective tissue revealed mild chronic inflammation with few scattered neutrophils and numerous capillary vessels. PAS histochemical stain with and without diastase disclosed the presence of cytoplasmic glycogen in the pale cells. The majority of glycogen-rich epithelial cells stained strongly for EMA and were negative for D2-40. Ki-67 immunostaining was confined only to the basal cell layer of the epithelium. A diagnosis of CCA was rendered. The lesion was negative for human papillomavirus (HPV) infection, as assessed by HPV-DNA PCR using the MY09/11 primers for the L1 conserved region, thus HPV infection does not appear to contribute to the pathogenesis of oral CCA. In conclusion, we report an intraoral example of CCA in order to raise awareness about this entity.
Topics: Acanthoma; Female; Humans; Middle Aged; Palatal Neoplasms; Palate, Hard; Skin Neoplasms
PubMed: 31230231
DOI: 10.1007/s12105-019-01050-0 -
Annals of Dermatology Jun 2022Epidermolytic acanthomas (EA) are uncommon benign tumors clinically presenting as single to multiple papules. Histologically, EA display hyperkeratosis, hypergranulosis,...
Epidermolytic acanthomas (EA) are uncommon benign tumors clinically presenting as single to multiple papules. Histologically, EA display hyperkeratosis, hypergranulosis, acanthosis, and epidermal degeneration-also known as epidermolytic hyperkeratosis (EH). EA may be misdiagnosed as condyloma both clinically and histopathologically when located on the genitalia. Thus, this diagnosis carries a significant psychological burden and must remain in the differential when initially considering genital warts. We utilize the case of a 62-year old female referred to dermatology for a 5-year history of multiple pruritic and hypopigmented vulvar papules-misdiagnosed as genital warts-to highlight the impact of differentiating EA from genital warts. This patient was initially misdiagnosed with common genital warts at her gynecologist's office and treated unsuccessfully for years. A shave biopsy was performed and histology revealed EH, consistent with EA.
PubMed: 35721331
DOI: 10.5021/ad.2022.34.3.221 -
Skin Appendage Disorders Jun 2021
PubMed: 34307486
DOI: 10.1159/000516306