Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet (UV) light, due to defects in deoxyribonucleic acid (DNA) repair. Basaloid squamous cell carcinoma is a rare aggressive variant of squamous cell carcinoma. Patients with XP are at increased risk of developing cutaneous malignancy and are commonly associated with squamous carcinoma. We report an extremely rare case of 8-year-old child with XP along with basaloidsquamous carcinoma of skin; and review of literature related to it.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248529 | PMC |
http://dx.doi.org/10.4103/0019-5154.143577 | DOI Listing |
Case Rep Surg
January 2025
Department of Surgery, Ise Red Cross Hospital, 1-471-2 Funae, Ise City, Mie, Japan.
Esophageal bleeding management typically involves endoscopy but becomes challenging with large or hemorrhagic tumors, especially in cases of rare basal cell carcinoma. This malignancy, with a poorer prognosis than squamous cell carcinoma, often requires definitive surgery. A 78-year-old man with severe hematemesis underwent transarterial embolization (TAE) after failed endoscopic hemostasis for a middle thoracic esophageal tumor.
View Article and Find Full Text PDFAm J Surg Pathol
January 2025
Department of Pathology, Brigham and Women's Hospital.
Basal cell carcinomas (BCC) are driven primarily by cumulative ultraviolet (UV) radiation exposure resulting in activation of the Hedgehog (Hh) signaling pathway, often as a result of UV-mediated Patched-1 (PTCH1) gene inactivation. Accordingly, BCCs most commonly arise at sun-exposed sites such as the head and neck. Very rarely, BCCs can arise at sun-protected sites such as the genital skin and perianal area.
View Article and Find Full Text PDFHead Neck Pathol
January 2025
Department of Pathology, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.
View Article and Find Full Text PDFActa Dermatovenerol Croat
November 2024
Takayuki Suyama, MD, PhD, Department of Dermatology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan; ORCID ID: 0000-0002-6986-411X.
Cystic basal cell carcinoma (BCC) is a rare subtype of BCC (1). Histologically, it is usually characterized by multiple small cysts without a clinical cystic appearance (2). Herein, we report an unusual case of cystic BCC with a large vulvar cyst.
View Article and Find Full Text PDFHum Pathol
January 2025
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, P. R. China; Shanghai Institute of Infectious Disease and Biosecurity, Fudan University, Shanghai 200032, P. R. China. Electronic address:
Objectives: Esophageal basaloid squamous cell carcinoma (basaloid ESCC) is an uncommon variant of esophageal squamous cell carcinoma (ESCC). We characterized the tumor immune microenvironment features of basaloid ESCC, and compared them with conventional ESCC.
Methods And Results: One hundred and four basaloid ESCC patients and 55 conventional ESCC patients were included in Cohort 1.
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