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Related Concept Videos

Castigliano's Theorem: Problem Solving01:14

Castigliano's Theorem: Problem Solving

The deflection of a simply supported beam that carries a central point load can be analyzed using structural mechanics principles, particularly by applying Castigliano's theorem. This theorem relates the displacement at the load application point to the partial derivatives of the strain energy in the structure. The simply supported beam with a point load at its center has symmetric reaction forces at the supports, each bearing half of the load. The bending moment at any point along the beam is...
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The Spindle Assembly Checkpoint02:19

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Updated: May 20, 2026

Isolation and Characterization of a Head and Neck Squamous Cell Carcinoma Subpopulation Having Stem Cell Characteristics
11:28

Isolation and Characterization of a Head and Neck Squamous Cell Carcinoma Subpopulation Having Stem Cell Characteristics

Published on: May 11, 2016

A puzzling case: SCC or not?

Susan Simpkin1, Duncan Lamont, Anthony Yung

  • 1Department of Dermatology, Waikato Hospital, Pembroke St., Hamilton, New Zealand. susansimpkin@gmail.com

The Australasian Journal of Dermatology
|July 5, 2012
PubMed
Summary
This summary is machine-generated.

Ferguson-Smith disease, a rare genetic condition, was diagnosed in a patient and her mother through DNA analysis. This confirmed mutations in the TGFBR1 gene, linking it to multiple self-healing squamous epitheliomata.

Keywords:
Ferguson-Smith diseaseMuirTorre syndromekeratoacanthomamultiple self-healing squamous epitheliomatasquamous cell carcinomatransforming growth factor ß receptor 1

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Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • Squamous cell carcinoma (SCC)-like lesions can present aggressively, necessitating thorough differential diagnoses.
  • Genetic predispositions to skin cancers require careful family history evaluation and molecular testing.

Observation:

  • A 37-year-old woman presented with multiple eruptive facial squamous cell carcinoma (SCC)-like lesions.
  • Her mother had a history of facial SCC, suggesting a potential hereditary component.

Findings:

  • Histology and immunohistochemistry excluded Muir-Torre syndrome.
  • DNA analysis identified mutations in the TGFBR1 gene, confirming Ferguson-Smith disease (multiple self-healing squamous epitheliomata) in the patient and her mother.
  • This patient and her mother were identified as family 11 among 18 families with this condition.

Implications:

  • Genetic testing for TGFBR1 mutations is crucial for diagnosing Ferguson-Smith disease.
  • Understanding the genetic basis of this condition aids in patient management and genetic counseling.
  • This case expands the understanding of TGFBR1 mutations in hereditary skin carcinogenesis.