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Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.
Ann Med Surg (Lond)
February 2024
Department of Internships, Ministry of Health, Nablus.
Introduction And Importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected.
View Article and Find Full Text PDFSpindle Cell-Predominant Trichodiscoma With Palisading Arrangement: A Rare Variant.
Am J Dermatopathol
November 2023
Department of Dermatology and Dermatopathology, University of Texas Medical Branch, Galveston, TX.
Article Synopsis
- Spindle cell-predominant trichodiscoma (SCPT) is a benign skin tumor that typically appears as dome-shaped papules on the face, especially around the nose.
- The variant discussed in the article features a unique palisaded arrangement of spindle cells within a supportive fibromyxoid stroma, setting it apart from other forms of SCPT.
- The study highlights a rare case in a middle-aged man, whose biopsy revealed distinct features that help differentiate this variant from schwannomas, including specific immunohistochemical staining patterns.
Birt-Hogg-Dubé syndrome: Another mTOR phenomenon.
Clin Dermatol
December 2022
Departments of Pathology and Dermatology, Rutgers-New Jersey Medical School, Newark, New Jersey, USA.
Birt-Hogg-Dubé syndrome is an uncommon autosomal dominant systemic disorder with cutaneous findings notable for fibrofolliculomas or trichodiscomas on the scalp, face, neck, and trunk. These cutaneous signs are associated with bilateral renal cell carcinoma, benign renal cysts, pulmonary cysts, and spontaneous pneumothorax. Given its autosomal dominant inheritance pattern, the successful diagnosis of Birt-Hogg-Dubé syndrome (BHDS) may elucidate a diagnosis in family members.
View Article and Find Full Text PDFSolitary asymptomatic lobular perianal nodule on an infant.
Dermatol Online J
October 2021
Department of Dermatology, University of Virginia, Charlottesville, Virginia, USA.
Folliculosebaceous cystic hamartoma (FSCH) is a benign lesion that presents as a solitary papule or nodule that typically affects the face and scalp of adults. A few reports have observed a congenital presentation. We present an infant boy exhibiting a tumor with overlap features between an FSCH and fibrofolliculoma in the perianal region that was first noticed at 6 months of age.
View Article and Find Full Text PDFHistopathological features of fibrous cephalic plaques in tuberous sclerosis complex.
Histopathology
October 2021
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Aims: Fibrous cephalic plaques (FCPs) in individuals with tuberous sclerosis complex (TSC) may be excised for cosmetic reasons or biopsied to confirm lesion identification and TSC diagnosis. The aim of this study was to determine the range of histopathological features of FCPs.
Methods And Results: A retrospective analysis was conducted on 119 adults with TSC.
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