Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Art & Psychiatry
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Conference Oration
Conference Summary
Continuing Medical Education
Cosmetic Dermatology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
Editor Speaks
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Miscellaneous Letter
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News & Views
Observation Letter
Observation Letters
Original Article
Original Contributions
Pattern of Skin Diseases
Pediatric Dermatology
Pediatric Rounds
Presedential Address
Presidential Address
Presidents Remarks
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Study Letter
Study Letters
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapy Letter
Therapy Letters
View Point
What’s new in Dermatology
View/Download PDF

Translate this page into:

Case Report
doi: 10.4103/0378-6323.45109
PMID: 19171990

Brooke-Spiegler syndrome

Pouran Layegh, Nourieh Sharifi-Sistani, Mohammad Abadian, Toktam Moghiman
 Qaem Hospital, Mashad University of Medical Sciences, Mashad, Iran

Correspondence Address:
Pouran Layegh
Department of Dermatology, Qaem Hospital, Mashad University of Medical Sciences, Mashad
How to cite this article:
Layegh P, Sharifi-Sistani N, Abadian M, Moghiman T. Brooke-Spiegler syndrome. Indian J Dermatol Venereol Leprol 2008;74:632-634
Copyright: (C)2008 Indian Journal of Dermatology, Venereology, and Leprology


The Brooke-Spiegler syndrome (BSS) is an uncommon autosomal dominant disorder characterized by a high affinity to form multiple adnexal neoplasia (skin appendage tumors), especially trichoepitheliomas and cylindromas, and occasionally spiradenomas, which usually appear in the second or third decade of life. To date, only a few cases with this syndrome have been reported. This case report describes a 26-year-old woman who presented to the dermatology department of Qaem Hospital with tumoral lesions on her scalp, face, and forearm. Her father and younger brother were also affected. On examination, several round-to-oval skin-colored papules with a smooth pearly surface measuring 2 to 6 mm in diameter were seen on the mid-face, particularly in the nasolabial folds, the upper lip. Tumors and nodules seen on the scalp were pinkish red, dome-shaped, and to some extent, pedunculated with surface telangiectasia and induration. Histopathology of the facial papules showed trichoepithelioma while that of a scalp nodule showed cylindroma.
Keywords: Brook-Spiegler syndrome, Cylindroma, Trichoepithelioma


The Brooke-Spiegler syndrome (BSS) is an uncommon autosomal dominant disorder characterized by a high affinity to form multiple trichoepitheliomas and cylindromas, and occasionally spiradenomas. To date, only a few cases with this syndrome have been reported. We report here a patient with this rare condition

Case Report

A 26-year-old female patient was presented with cutaneous lesions on her scalp and face. These lesions first appeared when she was 14 years old, primarily on her scalp and later developed on the face and had gradually increased in size and number over the years. Her father and 13-year-old brother also had similar lesions on their faces. On examination, a group of round-to-oval skin-colored papules with a smooth pearly surface measuring 2 to 6 mm in diameter was seen on the mid-face, particularly in the nasolabial folds, the upper lip, and less commonly on the forehead and the periocular areas [Figure - 1]. In addition to this, a variety of tumoral and nodular lesions was also seen on the scalp. The tumors of the scalp were pinkish red, dome-shaped, and to some extent, pedunculated with surface telangiectasia and induration. They measured 0.5 to 1.5 cm in diameter; the larger lesions were hairless, and the smaller ones had less hair than normal [Figure - 2]. There was also a subcutaneous firm nodule with a size of 0.5x0.5 cm on the patient´s right forearm. Her general condition was good. She had no known underlying disease and no previous history of taking any kind of medications. The histopathology of the scalp nodule revealed a dermal lesion with well-defined borders composed of islands of basaloid cells arranged in a jigsaw puzzle-like pattern and separated by hyaline basement membrane material. Two populations of basaloid cells (with a large nucleus centrally and smaller nuclei in a palisading pattern on the periphery) were observed, suggestive of cylindroma [Figure 3A].

In the facial papules, basaloid inclusions with immature (basic) follicular papillae and horn cysts were seen, which were surrounded by fibrous stroma and were typical of trichoepithelioma [Figure 3B].

The patient′s forearm nodule was composed of sheets of small dark-staining basaloid cells peripherally and larger cells with paler nuclei centrally, consistent with spiradenoma.

According to clinical features and histopathologic findings, a diagnosis of Brooke-Spiegler syndrome (BSS) was made.

In this patient, a number of large trichoepitheliomal lesions of the face and cylindromas of the scalp were finally excised; and because of the numerous lesions distributed throughout the face, she was subjected to continued treatment with carbon dioxide laser.


We have presented a case with BSS. This syndrome has an autosomal dominant mode of inheritance and tends to form numerous adnexal tumors, in particular trichoepithelioma, cylindroma, and occasionally spiradenoma, especially in the second or third decade of life. [1],[2],[3],[4] To date, the cell-type specific origin of BSS is a topic of ongoing debate. For cylindroma and spiradenoma, both the apocrine and eccrine origins have been suggested, but the origin of follicular trichoepithelioma is not yet confirmed. [5] Some individuals may present with isolated trichoepithelioma or cylindroma, whereas others can have a combination of them in one tumor, as described by Honag Ly et al, [6] which suggests a common embryonic relationship between the follicles and the apocrine glands. Thus BSS represents a genetical disorder which affects the regulation of the folliculo-sebaceous apocrine unit.

Further evidence for this hypothesis is provided by reports of other follicular tumors, such as BCC, follicular cyst, and nevus sebaceous, associated with this syndrome. [7],[8],[9] These findings indicate that a mutation in the genes that regulate the stem cell proliferation and differentiation can cause a defect in the differentiation of the folliculo-sebaceous apocrine unit, which gives rise to different combinations of adnexal skin tumors. [10]

Genetical studies have demonstrated that mutations in the CYLD 1 gene are responsible in this disease. [11] The penetrance of the gene has been estimated to be between 60% and 100%. [6] The disease also demonstrated variable clinical and histopathological features among the affected members of a single family, in which older members tend to have larger lesions that are also greater in number as compared to the younger members. [12],[13] This condition was obvious in our patient′s family, where the younger brother (13 years old) had numerous trichoepithelioma lesions on his face. Another fact which should be importantly taken into consideration in this case is that such patients are at risk for developing BCC from trichoepithelioma, and they should be followed up and clearly informed to visit the clinic if the lesions increase in number or become ulcerated.

The differed modes of treatment which have been suggested for the adnexal tumors in BSS patients include excision of the tumor, dermabrasion, electrodessication, cryotherapy, and radiotherapy using argon and Co2 lasers. In another study, it was observed that treatment with erbium-YAG laser causes less scars and fewer recurrences. It has been proven that the administration of aspirin and its derivatives can result in the rapid formation of new lesions. [14]

Bandmann HJ, Hamburger D, Romiti N. Brooke-Spigler phakomatose. Hantarzt 1965;16:450-3.
[Google Scholar]
Welch JP, Wells RS, Kerr CB. Ancell-spigler cylindromas (turban tumor) and Brooke Fordyce trichoepitheliomas: Evidence for a single entity. J Med Genet 1968;5:29-35.
[Google Scholar]
Rasmussen JE. A syndrome of trichoepitheliomas, milia and cylindromas. Arch Dermatol 1975;111:610-4.
[Google Scholar]
Kaddu S, Kerl H. Appendage tumors of the skin. In: Freedberg IM, Eisen AZ, Wolff K, Austen FK, Goldsmith LA, Katz SI, editors. Fitzpatricks dermatology in general medicine .Vol. 1. 6th ed. London: McGraw-Hill; 2003. p. 785-808.
[Google Scholar]
Weyers W, Nilles M, Eckert F, Schill WB. Spiradenoma in Brooke-Spigler syndrome. Am J Dermatopathol 1993;15:156-61.
[Google Scholar]
Ly H, Black MM, Robson A. Case of the Brooke-Spiegler syndrome. Australian J Dermatol 2004;45:220-2.
[Google Scholar]
Ferrandiz C, Campo E, Bauman E. Dermal cylindromas (turban tumor)and eccrine spiradenomas in a patient with membranous basal cell adenoma of the parotid gland. J Cutan Pathol 1985;12:72-9.
[Google Scholar]
Headington JT, Batsakis JG, Beals TF, Campbell TE, Simmons JL, Stone WD. Membranous basal cell adenoma of parotid gland, dermal cylindromas and trichoepitheliomas: Comparative histochemistry and ultra-structure. Cancer 1977;39:2460-9.
[Google Scholar]
Burrow NP, Jones RR, Smith NP. The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spigler syndrome): A report of two families. Clin Exp Dermatol 1992;17:332-6.
[Google Scholar]
Fenske C, Banerjee P, Holden C, Carter N. Brooke-Spiegler syndrome locus assigned to 16q12-q13. J Invest Dermatol 2000;114:1057-8.
[Google Scholar]
Young AL, Kellermayer R, Szigeti R, Tιszαs A, Azmi S, Celebi JT. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis and multiple familial trichoepithelioma syndromes: Short report. Clin Genet 2006;70:246-9.
[Google Scholar]
Saunders H, Tucker P, Saurine T, Watkins F. Pedigree of multiple benign adnexal tumors of Brooke-Speigler type. Australas J Dermatol 2003;44:144-8.
[Google Scholar]
Zhang XJ, Liang YH, He PP, Yang S, Wang HY, Chen JJ, et al . Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 2004;122:658-64.
[Google Scholar]
Rallan D, Harland CC. Brooke-Spiegler syndrome: Treatment with non ablative laser. Clin Exp Dermatol 2005;30:355-7.
[Google Scholar]

Fulltext Views

PDF downloads
Show Sections