Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (19)

Brooke-Spiegler syndrome
Other Resources UpToDate PubMed

Brooke-Spiegler syndrome

Contributors: Chase W. Kwon MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Brooke-Spiegler syndrome is a rare genodermatosis characterized by a triad of cutaneous adnexal tumors: cylindromas, spiradenomas, and trichoepitheliomas. This syndrome is inherited in an autosomal dominant pattern, thus affecting males and females in equal numbers, but limited evidence suggests that females may be more severely affected than their male counterparts. Tumors typically arise during late childhood or early adolescence, preferentially in the head and neck region, but new lesions may continue to develop throughout a patient's lifetime. Although most lesions are benign and require no further intervention, the location, size, and number of tumors may be disfiguring or disabling, potentially impairing vision or hearing. Rarely, these tumors may also undergo malignant transformation and may even metastasize.

This syndrome is caused by a mutation in the tumor suppressor gene CYLD, which is located on the 16q chromosome. Currently, there are 68 known mutations associated with Brooke-Spiegler syndrome.

Two similar conditions, familial cylindromatosis and multiple familial trichoepithelioma, are also caused by mutations in the CYLD gene, and given their overlapping clinical features, are considered phenotypic variants of Brooke-Spiegler syndrome. In familial cylindromatosis, affected patients develop only cylindromas, and in multiple familial trichoepithelioma, patients exclusively develop trichoepitheliomas.

Codes

ICD10CM:
D23.9 – Other benign neoplasm of skin, unspecified

SNOMEDCT:
703531009 – Brooke-Spiegler Syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Differential diagnosis of painful benign tumors:
  • Angiolipoma
  • Blue rubber bleb nevus syndrome
  • Adiposis dolorosa
  • Cutaneous endometriosis
  • Glomus tumor
  • Cutaneous leiomyoma
  • Granular cell tumor
  • Solitary neurofibroma
  • Cutaneous neuroma
Syndromic and other considerations:
  • Arsenic poisoning – Can result in multiple basal cell carcinomas, which may mimic cylindromas and trichoepitheliomas.
  • Basal cell nevus syndrome – Basal cell carcinomas may mimic cylindromas and trichoepitheliomas.
  • Follicular atrophoderma and basal cell epitheliomata – Can present with multiple trichoepitheliomas.
  • Cowden disease – Can present with multiple trichilemmomas, which may mimic trichoepitheliomas.
  • Milia – Milia may mimic trichoepitheliomas.
  • Neurofibromatosis – Multiple cylindromas may mimic neurofibromatosis.
  • Rombo syndrome – Can present with multiple trichoepitheliomas.
  • Tuberous sclerosis – Can present with angiofibromas, which may mimic trichoepitheliomas.

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:02/02/2017
Last Updated:01/12/2022
Copyright © 2024 VisualDx®. All rights reserved.
Brooke-Spiegler syndrome
A medical illustration showing key findings of Brooke-Spiegler syndrome : Face, Scalp, Smooth papules
Clinical image of Brooke-Spiegler syndrome - imageId=4773757. Click to open in gallery.  caption: 'Numerous reddish and violaceous papules on the forehead.'
Numerous reddish and violaceous papules on the forehead.
Copyright © 2024 VisualDx®. All rights reserved.