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What is in a name-Perifollicular fibroma or fibrofolliculoma?
J Cutan Pathol
February 2024
Department of Dermatology, Medical Center-University of Freiburg, Germany.
Article Synopsis
- There is ongoing confusion about whether hereditary perifollicular fibromas and fibrofolliculomas are distinct skin tumors.
- Histopathological evidence shows that these tumors are actually the same, despite historical claims that fibrofolliculomas were an unrecognized type of tumor.
- It is important to differentiate between hereditary nonsyndromic perifollicular fibromas and the syndromic types associated with conditions like colon cancer, as understood through past research by various groups.
Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
Am J Med Genet C Semin Med Genet
June 2023
Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
Article Synopsis
- Autosomal dominant skin disorders can exhibit pronounced mosaic involvement in neonates, stemming from early loss of heterozygosity in the embryo shortly after fertilization.
- Some syndromes, like Brooke-Spiegler and Hornstein-Knickenberg, show early-onset symptoms that can foreshadow later, more widespread manifestations of the disorder.
- Conditions like glomangiomatosis and Darier disease demonstrate that neonatal mosaic lesions can be early indicators of nonsegmental skin issues emerging much later in life.
A Unique Presentation of Birt-Hogg-Dube Syndrome.
Cureus
August 2021
Pulmonary and Critical Care Medicine, Edward Via College of Osteopathic Medicine-Carolinas, Spartanburg, USA.
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant condition identified by the triad of cutaneous fibrofolliculomas, pulmonary cysts, and renal cell carcinoma. The vast majority of patients with BHD syndrome initially present with spontaneous pneumothorax. This unique case describes a patient with BHD syndrome who presented with sebaceous cysts and perifollicular fibromas.
View Article and Find Full Text PDFCd34+ Stromal Cells/Telocytes in Normal and Pathological Skin.
Int J Mol Sci
July 2021
Department of Basic Medical Sciences, Faculty of Medicine, University of La Laguna, 38071 Tenerife, Spain.
We studied CD34+ stromal cells/telocytes (CD34+SCs/TCs) in pathologic skin, after briefly examining them in normal conditions. We confirm previous studies by other authors in the normal dermis regarding CD34+SC/TC characteristics and distribution around vessels, nerves and cutaneous annexes, highlighting their practical absence in the papillary dermis and presence in the bulge region of perifollicular groups of very small CD34+ stromal cells. In non-tumoral skin pathology, we studied examples of the principal histologic patterns in which CD34+SCs/TCs have (1) a fundamental pathophysiological role, including (a) fibrosing/sclerosing diseases, such as systemic sclerosis, with loss of CD34+SCs/TCs and presence of stromal cells co-expressing CD34 and αSMA, and (b) metabolic degenerative processes, including basophilic degeneration of collagen, with stromal cells/telocytes in close association with degenerative fibrils, and cutaneous myxoid cysts with spindle-shaped, stellate and bulky vacuolated CD34+ stromal cells, and (2) a secondary reactive role, encompassing dermatitis-e.
View Article and Find Full Text PDFGiant Rhinophyma.
Adv Anat Pathol
November 2020
Department of Anatomical Pathology, SA Pathology at Flinders Medical Centre, Bedford Park, SA, Australia.
A 42-year-old woman presented with a clinically obvious giant rhinophyma. The protocol of the unit handling the case mandated that all lesions amenable to biopsy should have a core biopsy before any definitive surgery, but the unnecessary biopsy was not representative and suggested an incorrect diagnosis of perifollicular fibroma. The lesion was excised.
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