Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas

Agustí, Jaime; Bella-Navarro, R.; García-García, Ángeles; Bueno, Elena Villamañán; González-Sarmiento, Rogelio; Navarro, Lara; Sánchez‐Sendra, Beatriz; Revert, Ángeles; Jordá, Esperanza; Monteagudo, Carlos

doi:10.1111/bjd.15736

Cited by 4 publications

(3 citation statements)

References 38 publications

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“…However, this mutation is insufficient to cause cancer. Increased FGFR3 activity promotes FOXN1‐mediated differentiation and results in a benign SK‐like phenotype in previously malignant squamous cell carcinoma (SCC) cells, which may be explained by a positive FGFR3/FOXN1 feedback loop in SK 17 . FOXN1 knockdown, on the other hand, increases oncogenic RAS and causes SCC‐like cancers 18 .…”

Section: Pathogenesismentioning

confidence: 99%

Update of pathophysiology and treatment options of seborrheic keratosis

Gorai¹,

Ahmad

Raza

et al. 2022

Dermatologic Therapy

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Seborrheic keratosis (SK) is a common, benign tumor that can occur on everybody site and can be conservatively managed. Cosmetic concerns, especially when a lesion involves the facial area, are the most common reason for excision. SK shows male gender preponderance and increasing age is an independent association with the condition. Even though more prevalent in the elderly, it has also been reported in younger age groups like adolescents and young adults. Precise pathogenesis is still obscure, but ultra-violet exposure represents a predisposing factor to SK by altering the biochemical concentration and expression of factors like Glutamine deaminases, endothelin, and stem cell factor. Moreover, the accumulation of amyloid-associated protein has also been postulated. Involvement of genitalia has been associated with human papillomavirus infection. Recently, Merkel cell polyomavirus nucleic acid was also detected in SK. Several oncogenic mutations involving FGFR-3 and FOXN1 have been identified. SKs are usually classified clinically and histologically. Dermatoscopy is a noninvasive alternative diagnostic technique widely used in differentiating SK from other benign and malignant tumors. In terms of treatment, topical agents, shave dissection, cryosurgery, electrodesiccation, laser application and curettage under local anesthesia are safe methods for eradication of SKs, mostly for cosmetic purposes. Though generally safe, the latter techniques may occasionally cause postprocedure depigmentation, scarring, and recurrence. Nanosecond-pulsed electric field technology is a promising new technique with fewer side-effects.

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Section: Pathogenesismentioning

confidence: 99%

Update of pathophysiology and treatment options of seborrheic keratosis

Gorai¹,

Ahmad

Raza

et al. 2022

Dermatologic Therapy

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show abstract

“…One study by Martinez et al looked at patients with familial seborrheic keratoses associated with multiple infundibulocystic BCCs and acanthomas and identified PTCH1 and FGFR3 germline polymorphisms suggesting a possible link in the development of these lesions. 21 Another study demonstrated an association of multiple BFH FIGURE 3. Biopsies of all of the lesions showed similar histologic findings.…”

Section: Discussionmentioning

confidence: 99%

Basaloid Follicular Hamartoma: An Additional Criterion of Nevoid Basal Cell Carcinoma Syndrome

Chikeka¹,

Chang²,

Collins³

et al. 2021

The American Journal of Dermatopathology

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Basaloid follicular hamartoma (BFH) is a rare, benign follicular neoplasm which typically presents as brown to skincolored papules on the face, scalp, and trunk. Histologically, BFH consists of cords and strands of basaloid cells forming cystic structures with scant stroma and should be distinguished from infundibulocystic basal cell carcinoma to avoid overly aggressive treatment. Although BFH has been found to be associated with distinct syndromes, including alopecia, myasthenia gravis, and cystic fibrosis, there is often clinical, histopathologic, and genetic overlap with nevoid basal cell carcinoma syndrome (NBCCS). In this article, we describe a case of a 13-year-old patient with NBCCS who presented with multiple BFHs and propose that it its inclusion into the diagnostic criteria for NBCCS be considered.

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“…Therefore, MAC is often misdiagnosed as a benign adnexal tumor (such as syringoma and trichoepithelioma, which also usually appear on the face [ 5 ]) both clinically and pathologically [ 6 , 7 ]. On the other hand, disfiguring surgical excision is used to achieve clear margins because of the deeply infiltrative growth, while infundibulocystic basal cell carcinoma, a basal cell carcinoma with histologically adnexal differentiation [ 8 ], often needs to be identified with MAC, because of its good prognosis and no need for an extended margin surgery. Both of these things lead to delayed treatment and patients suffering larger wounds.…”

Section: Introductionmentioning

confidence: 99%

Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation

Wang

Tang

et al. 2022

World J Surg Onc

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Background Microcystic adnexal carcinoma (MAC) is a skin cancer with challenges in diagnosis and management. This study was aimed to detect molecular alterations of MAC and guide its pathologic diagnosis and treatment. Methods We performed transcriptome analysis on 5 MAC and 5 normal skin tissues, identified the differentially expressed genes, and verified them by immunohistochemistry. Results Three hundred four differentially expressed genes (DEGs) in MAC were identified by next-generation transcriptome sequencing, among which 225 genes were upregulated and 79 genes were downregulated. Four genes of the calcium signaling pathway, including calcium voltage-gated channel subunit alpha 1 S (CACNA1S), ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 (ATP2A1), ryanodine receptor 1 (RYR1), and myosin light chain kinase 3 (MYLK3), were upregulated and then been verified by immunohistochemistry. The expression of CACNA1S, ATP2A1, RYR1, and MYLK3 was upregulated in MAC compared with normal sweat glands and syringoma tumor cells and was generally negative in trichoepithelioma and infundibulocystic type basal cell carcinoma. Conclusions The four genes of the calcium signaling pathway were upregulated in MAC at both RNA and protein levels. CACNA1S, ATP2A1, RYR1, and MYLK3 may be new diagnostic molecular markers and therapeutic targets for MAC.

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Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas

Cited by 4 publications

References 38 publications

Update of pathophysiology and treatment options of seborrheic keratosis

Update of pathophysiology and treatment options of seborrheic keratosis

Basaloid Follicular Hamartoma: An Additional Criterion of Nevoid Basal Cell Carcinoma Syndrome

Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation

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