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Related Concept Videos

Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex-linked Disorders01:43

Sex-linked Disorders

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Schizotypal personality disorder and histrionic personality disorder are two distinct psychological conditions classified under personality disorders, each characterized by unique behavioral patterns and social difficulties. Both disorders significantly affect interpersonal relationships and emotional well-being, leading to social isolation and frustration.
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Related Experiment Video

Updated: May 22, 2026

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo
10:10

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Published on: July 15, 2016

Brooke-spiegler syndrome: a rare entity.

Kajal Manchanda1, Manish Bansal, Aakash Amar Bhayana

  • 1Departments of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

International Journal of Trichology
|May 26, 2012
PubMed
Summary

Brooke-Spiegler syndrome (BSS) is a rare genetic disorder causing multiple skin tumors. This case highlights familial adnexal tumors, confirming BSS diagnosis through clinical and histopathological findings.

Keywords:
Brooke-Spieglercylindromastrichoepithelioma

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Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • Brooke-Spiegler syndrome (BSS) is an autosomal dominant disorder.
  • It is characterized by the development of multiple adnexal tumors, including cylindromas, trichoepitheliomas, and spiradenomas.

Observation:

  • A 35-year-old female presented with a 30-year history of asymptomatic nodular lesions on her face and scalp.
  • A strong family history of similar lesions was noted across multiple generations.
  • Physical examination revealed characteristic facial and scalp nodules consistent with trichoepitheliomas and cylindromas.

Findings:

  • Histopathological examination confirmed the presence of trichoepitheliomas on the face and cylindromas on the scalp.
  • The clinical presentation and histopathological results were diagnostic of Brooke-Spiegler syndrome.

Implications:

  • This case underscores the importance of recognizing familial patterns in adnexal tumors.
  • Accurate diagnosis of BSS is crucial for genetic counseling and potential future management strategies.
  • Further research into the genetic underpinnings and therapeutic options for BSS is warranted.