Cutaneous lesions from three patients with segmental neurofibromatosis were evaluated. Routine histologic studies revealed the presence of redimentary neural structures within an abundant collagenous matrix. The majority of the cells in all three cases expressed S-100 protein, suggesting their identity as Schwann cells. The stromal component stained positively for fibronectin and type IV collagen; the latter indicated the presence of basement membrane material. Embedded in the tumor mass were glandular epithelial structures that stained with epithelial membrane antigen antibody. Staining for factor VIII-related antigen revealed vascular endothelium and multiple scattered mast cells. In one case strands of cells stained with antibodies to desmin, suggesting muscle cell differentiation. This case may represent a distinct subset of neurofibromas.
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http://dx.doi.org/10.1016/0190-9622(90)70083-t | DOI Listing |
Ned Tijdschr Geneeskd
August 2023
Alrijne Ziekenhuis,afd. Dermatologie, Leiden.
A 58-years old man was seen at the dermatology outpatient clinic because of a spot near his ear. However, during physical examination soft-elastic papules on his left shoulder were visible. As the patient had not undergone additional examination for this, a biopsy was taken.
View Article and Find Full Text PDFMed J Armed Forces India
March 2021
Professor & Head (Dermatology), SRM Med College & Research Centre, SRM Nagar, TamilNadu, India.
Neurofibromatosis (NF) is an inherited neuroectodermal abnormality that primarily affects the growth of neural tissues, and Riccardi classified it into eight types. Segmental neurofibromatosis, which is a rare form of neurofibromatosis, is classified as type 5. We report a case for very unusual presentation of segmental NF with unilateral lisch nodules and uncommon sites involving the scalp.
View Article and Find Full Text PDFDermatol Online J
December 2022
Dr Phillip Frost Department of Dermatology, University of Miami, Miami, Florida, USA.
Segmental pigmentation anomalies can be further divided into segmental pigmentation disorder (SPD) complex and café-au-lait macules (CALMs). Both are congenital skin conditions characterized by hyper- or hypopigmentation. Segmental pigmentation disorder is a rare entity, whereas CALMs are common skin lesions that may be associated with various genetic conditions, especially when several are present and the patient has other indicators of a genetic abnormality.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2023
Department of Pathology, College of Medicine, Chosun University, Gwangju, Korea.
Rationale: Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin pigmentation, and is inherited in an autosomal dominant trait with mutation in the neurofibromin 1 gene on chromosome 17. Neurofibromin is involved in Ras proto-oncogene regulation.
View Article and Find Full Text PDFCutis
September 2022
Drs. Hemmrich and Mancuso are from the Dr. Kiran C. Patel College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, Florida. Dr. Francis is from the Department of Dermatology, University of Florida College of Medicine, Gainesville.
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