1.Infiltrative basal cell carcinoma with nodal metastasis in a 74-year-old female: A case report
Reynaldo Gabriel Paulino ; John Ricardo Chua ; Karen Damian ; Erwin Gerard Geron ; Clarisse Veronica Mirhan
Philippine Journal of Pathology 2025;10(1):1-5
Basal cell carcinoma, the most common human malignancy, has a rare incidence of metastases ranging from 0.0028-0.55%. We report a case of a 74-year-old female with a 10-year history of an enlarging anterior thigh nodule. Wide resection and inguinal lymph node dissection revealed an infiltrative basal cell carcinoma with lymph node metastasis due to the presence of basaloid cells, limited peripheral palisading, loose stroma, extensive spread, perineural invasion and immunoreactivity to p40, BerEP4, and GATA3.
Human ; Female ; Aged: 65-79 Yrs Old ; Carcinoma, Basal Cell ; X-ray
2.N6-methyladenosine modification and skin diseases.
Ling JIANG ; Yibo HU ; Jing CHEN
Journal of Central South University(Medical Sciences) 2025;50(3):382-395
Currently, research on N6-methyladenine (m6A) is extensive in the field of oncology, while studies involving m6A and skin diseases remain relatively limited. Based on existing reports, we searched PubMed and Web of Science for literature related to m6A and dermatological conditions. Analysis of citation counts and journal impact factors revealed a significant upward trend in the volume of m6A-related research. Term frequency analysis of titles and abstracts indicated that studies mainly focus on skin tumors and inflammatory or immune-related skin diseases, particularly melanoma, psoriasis, and skin development. Transcriptomic data from the Gene Expression Omnibus (GEO) were analyzed, revealing differential expression of m6A-related genes in 4 types of skin tumors (including squamous cell carcinoma and basal cell carcinoma) as well as in inflammatory skin diseases such as psoriasis and atopic dermatitis, and potential mechanisms of action were also explored. Findings suggest that m6A modifications exhibit heterogeneity between neoplastic and non-neoplastic skin diseases. However, the regulatory mechanisms of m6A dynamic modifications on key genes involved in dermatological disorders remain unclear and warrant further investigation.
Humans
;
Skin Neoplasms/metabolism*
;
Skin Diseases/metabolism*
;
Adenosine/genetics*
;
Psoriasis/genetics*
;
Carcinoma, Squamous Cell/genetics*
;
Carcinoma, Basal Cell/genetics*
;
Melanoma/genetics*
3.Successful in situ 5-aminolevulinic acid photodynamic therapy in a 53-year-old female with cutaneous squamous cell carcinoma.
Limin LUO ; Xiaoling JIANG ; Jianjun QIAO ; Hong FANG ; Jun LI
Journal of Zhejiang University. Science. B 2025;26(9):915-922
Basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC), as certain forms of non-melanoma skin cancer (NMSC) or keratinocyte carcinoma, are the most common forms of malignant neoplasms worldwide (Sharp et al., 2024). BCC and cSCC have been identified as two major components of NMSC, comprising one-third of all malignancies (Burton et al., 2016). Generally speaking, patients with NMSC tend to have relatively favorable survival outcomes, while different histopathological subtypes of NMSC exhibit distinct biological behaviors (Stătescu et al., 2023). Keratinocyte carcinoma, although not considered as deadly as melanoma, tends to metastasize if left untreated (Civantos et al., 2023; Nanz et al., 2024). cSCC can evolve locally, then aggressively metastasize, invade, and even lead to fatal consequences in a subset of patients (Winge et al., 2023). A solid, pigmented, smooth plaque or a hyperkeratotic papule with or without central ulceration and hemorrhage appears to be characteristic of cSCC (Thompson et al., 2016; Zhou et al., 2023). Of note, a rare type of intraepidermal cSCC in situ often appears as a velvety, demarcated, slightly raised erythematous plaque on the genitalia of men (Yamaguchi et al., 2016). Accounting for approximately 16.0% of scalp tumors and with a rising incidence, cSCC is now the second most common NMSC in humans (Verdaguer-Faja et al., 2024). According to the latest statistics, up to 2%‒5% of cSCCs in situ may gradually progress into invasive cSCCs in the final step (Rentroia-Pacheco et al., 2023). Several risk factors for the carcinogenesis and development of cSCC have been identified, including age, accumulative exposure to ultraviolet light radiation A and B, human papillomavirus infection, arsenic ingestion, chronic scarring, xeroderma pigmentosa, a relevant history of ionizing radiation, androgenetic alopecia in males, and immunosuppression therapy (Martinez and Otley, 2001; Welsch et al., 2012; Mortaja and Demehri, 2023).
Humans
;
Aminolevulinic Acid/therapeutic use*
;
Skin Neoplasms/pathology*
;
Photochemotherapy/methods*
;
Female
;
Carcinoma, Squamous Cell/pathology*
;
Middle Aged
;
Photosensitizing Agents/therapeutic use*
;
Carcinoma, Basal Cell/drug therapy*
4.Application of different repair methods for defects after Mohs micrographic surgery for malignant tumors of the external nose.
Huilin LI ; Mei ZHENG ; Xiaolin WANG ; Huan QI ; Zhifei ZHANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):830-835
Objective:To observe the effects of different repair methods in the defects after Mohs surgical excision of malignant nasal tumors. Methods:Twenty-two cases of external nasal malignant tumor surgery from January 2021 to May 2024 were selected as the research. The tumors were resected using Mohs surgical technique, and the defects were repaired using forehead axial flap, bipedicle flap, nasolabial flap, free full-thickness skin graft from the groin, forehead axial flap, facial kite flap, and composite flap of earlobe cartilage and perichond. The postoperative flap survival, external nasal morphology, and tumor recurrence were observed. Results:Among the 22 cases, there were 1 case of Kaposis sarcoma(KS), 2 cases of squ cell carcinoma, and 19 cases of basal cell carcinoma. Tumors were located at the nasal root in 3 cases, the nasal dorsum in5 cases, the nasal tip in 2 cases, the ala in 8 cases, both the ala and the nasal dorsum in 2 cases, nasal columella, the nasal tip, and the ala in 1 case, the nasal tip, the nasal dorsum, the ala, and paranasal area in 1 case. The size of the defects ranged from 1.2 cm×1.4 cm to 3.7 cm×4.8 cm. Three cases were repaired with forehead axial flaps, four cases with bilobed flaps, thirteen cases with nasolabial groove flaps, one case with free full-thickness skin grafts from the inguinal region, and one case with a combination of forehead axial flaps and facial kite flaps plus a composite of earlobe cartilage and perichondrium. All flaps survived well after surgery. Patients were followed up for 6 months to 3 years after surgery, during which no tumor recurrence was observed, and most patients were satisfied with appearance of their nose. Conclusion:Mohs surgery is used to excise the malignant tumor of the external nose, and satisfactory surgical results can be obtained by using different repair methods based the location and size of the postoperative defect.
Humans
;
Mohs Surgery/methods*
;
Nose Neoplasms/surgery*
;
Surgical Flaps
;
Skin Transplantation
;
Male
;
Carcinoma, Basal Cell/surgery*
;
Skin Neoplasms/surgery*
;
Female
;
Middle Aged
;
Plastic Surgery Procedures/methods*
;
Nose/surgery*
;
Aged
;
Adult
;
Carcinoma, Squamous Cell/surgery*
5.Multiple bone metastases in an elderly Filipino with basal cell nevus syndrome.
Journal of the Philippine Medical Association 2025;104(1):37-41
Basal Cell Nevus Syndrome (BCNS) is a rare autosomal dominant disorder characterized by a range of abnormalities, most notably multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and palmar and/or plantar pits. BCC is the most common form of skin cancer globally. It is typically locally invasive and very rarely metastasizes, with distal metastases occurring in only 0.00028% to 0.55% of cases.
We present a case of a 68-year-old Filipino woman who was diagnosed with BCNS. She presented with multiple black nodules and plaques on her face and neck, histopathologically confirmed as BCCs. In addition, the presence of palmoplantar pits and calcification of the falx cerebri met three of the six major criteria for BCNS. Computed tomography (CT) and bone scans, revealed multiple bone metastases in the cranium, spine, sternum, and ribs. No previous cases of metastasis in a BCNS patient have been reported in the Philippines, making this the first documented case.
Human ; Female ; Aged: 65-79 Yrs Old ; Basal Cell Nevus Syndrome ; Carcinoma, Basal Cell
6.Clinical characterization and genetic analysis of a patient with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma due to variants of XPC gene.
Yixing CHANG ; Xiaoning ZHANG ; Rui WANG ; Qiumei WANG ; Zhenghao LIU
Chinese Journal of Medical Genetics 2025;42(11):1381-1386
OBJECTIVE:
To explore the clinical presentation and genetic etiology of a case with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma.
METHODS:
A male patient with Xeroderma pigmentosum treated at Xinxiang Central Hospital in October 2022 was selected as study subject. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing of his family members. This study was approved by the Ethics Committee of the hospital (Ethics No.: 2021-167).
RESULTS:
Magnetic resonance imaging showed that the patient has a solid soft tissue mass in the anterior and lower part of his right eyeball and a small nodule on the left nasal wing. Histopathological biopsy showed that the periocular tumor was basal cell carcinoma in conjunct with malignant melanoma, and the nasal wing tumor was basal cell carcinoma. WES and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XPC gene, namely c.2391delT (p.F797Lfs*11) and IVS1+1G>A, which were inherited from his father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were rated as likely pathogenic (PVS1+PM2_Supporting+PM3) and pathogenic (PVS1+PM2_Supporting+PM3+PP5), respectively. The c.2391delT variant was unreported previously. Bioinformatic analysis suggests that it could significantly affect the tertiary structure of XPC protein.
CONCLUSION
The c.2391delT(p.F797Lfs*11) and IVS1+1G>A compound heterozygous variants probably underlay the pathogenesis in this patient. The detection of the novel variant has enriched the mutational spectrum of the XPC gene.
Humans
;
Male
;
Xeroderma Pigmentosum/genetics*
;
Basal Cell Carcinoma/genetics*
;
DNA-Binding Proteins/genetics*
;
Melanoma/genetics*
;
Mutation
;
Skin Neoplasms/genetics*
;
Middle Aged
;
Exome Sequencing
;
Pedigree
7.Tenacious tumors: Basal Cell Nevus Syndrome in a 50-year-old Filipina
Kariza Valerie L. De Vera ; Rogelio A. Balagat
Journal of the Philippine Medical Association 2024;102(2):71-76
Basal cell nevus syndrome is a rare
autosomal dominant disorder with a prevalence
of between 1in 60,000 to 1in 120,000. This disorder is
associated with a panoply of phenotypic
that includes developmental
anomalies and tumors particularly basal cell
carcinoma. The genetic abnormality in almost all
known cases is a mutation in the PATCHED] gene
which is essential for normal body and limb
patterning.?
abnormalities
We report a 50-year-old Filipina who
suffered from multiple recurrent pigmented
papules, plagues, nodules, and tumors on the face
with the first tumor appearing at age 20.
Basal Cell Nevus Syndrome
8.Cutaneous squamous cell carcinoma and multiple basal cell carcinomas in xeroderma pigmentosum-variant type treated with imiquimod 5% cream and radiotherapy: A case report.
Amanda T. Chung ; Jerson N. Taguibao ; Arunee H. Siripunvarapon ; Ma. Lorna F. Frez
Acta Medica Philippina 2024;58(17):100-105
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by sensitivity to sunlight and predisposition to cutaneous malignancies. There are various types, including the Variant type, which does not manifest with acute sunburn reactions. This results to the development of multiple malignancies that are often discovered at late stages, making management more challenging. This is a case of a 54-year-old Filipino female presenting with multiple basal cell carcinomas (BCCs) on several areas of the face and advanced cutaneous squamous cell carcinoma (cSCC) on the right zygomatic area, treated with imiquimod 5% cream and external beam radiation therapy, respectively. There was an excellent response of the BCCs to imiquimod 5% cream and good tumoral response of the SCC to radiation therapy, with tolerable side effects, highlighting the use of these palliative treatment modalities for XP patients with multiple, unresectable, or difficult-to-treat cutaneous malignancies.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Xeroderma Pigmentosum ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Imiquimod ; Radiation Therapy ; Radiotherapy
9.Clinicodemographic and dermoscopic features of basal cell carcinoma among Filipino patients seen in a tertiary care clinic
Juan Paolo David S. Villena ; Mary Antonette D. Atienza ; Nicole Marella G. Tan ; Val Constantine S. Cua ; Blythe N. Ke ; Arunee H. Siripunvarapon
Acta Medica Philippina 2024;58(17):42-49
Background:
Dermoscopy enhances detection of basal cell carcinoma (BCC), especially for the pigmented subtype common among Asians. However, there is limited data on dermoscopic features of BCC in Filipinos.
Objectives:
The objective of this study is to describe the clinicopathologic profile and dermoscopic features of BCC in Filipinos seen in a tertiary care clinic.
Methods:
A cross-sectional study was conducted in the Philippines from November 2019 to December 2021 in a tertiary care clinic. Fifty-three (53) lesions suspicious for BCC were analyzed using dermoscopy prior to histologic confirmation. Fifty (50) biopsy-proven BCC lesions were included in the analysis.
Results:
Lesions were more commonly seen in females (72.50%), and located on the head and neck (88%). The most common histopathologic subtype was nodular (74%). The most common dermoscopic features were large blue-gray ovoid nests (86%) and ulcerations (70%).
Conclusion
The most common BCC type among the study participants was nodular, with large blue-gray ovoid nests and ulceration seen on dermoscopy.
carcinoma, basal cell
;
dermoscopy
10.A case of a concomitant rhinophyma and basal cell carcinoma on the nose in a 76-year-old British male
Tetsuya Jumi B. Makino ; Charlene Marie U. Ang-Tiu
Journal of the Philippine Dermatological Society 2024;33(Suppl 1):25-25
Rosacea is a common, chronic condition seen most frequently in lightly pigmented skin presenting with centrofacial redness, papules, pustules, flushing, telangiectasia, and phymatous skin changes. Phymatous rosacea on the nose is called rhinophyma. This condition predominantly affects males in their 5th-7th decade of life. Rosacea has a complex pathophysiology involving the innate and adaptive immune system and its interaction with environmental stimuli. Correlation of non-melanoma skin cancer and rosacea is documented albeit uncommon, and none published from the Philippines.
This is a case of a 76-Year Old British male who presents with a 3 year history of skin colored mass on the nose, which was excised with paramedian forehead flap and was diagnosed with squamous cell carcinoma. In the interim, the patient noted the appearance of rubbery erythematous plaque on the nose with progressively increasing size and erythema and ulceration. Skin punch biopsies were done revealing both infiltrative basal cell carcinoma and rhinophyma. Patient was eventually seen by general surgery and underwent a wide excision.
This case highlights the importance of having a high index of suspicion for malignancies in the appropriate population. The different findings of biopsy sites also reminds us of choosing the appropriate biopsy sites for accurate and timely diagnosis. Lastly, a multidisciplinary approach for successful and comprehensive treatment is of paramount importance.
Human ; Male ; Aged: 65-79 Yrs Old ; Carcinoma, Basal Cell ; Rhinophyma ; Rosacea


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