10.5826/dpc.1302a82
text/xml
2160-9381
2640
en
Camilla Vassallo
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
Brooke-Spiegler Syndrome: Age-Related Progression in a Family Group 
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Image Letter
2023-04-29
2022-06-09
2023-04-29
2023-06-05
e2023082
Dermatol Pract Concept
Camilla Vassallo
2023/04/29
10.5826/dpc.1302a82
e2023082
Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia,.and Dermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
2160-9381
en
e2023082
Andersson MK, Kölby L, Nilsson JA, Stenman G. Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome. J Plast Surg Hand Surg. 2019;53(2):71-75. doi: 10.1080/2000656X.2018.1547736. Epub 2019 Jan 24. PMID: 30676842.
Brooke-Spiegler Syndrome: Age-Related Progression in a Family Group 
https://dpcj.org/index.php/dpc/article/download/2640/2094
                 Brooke-Spiegler Syndrome: Age-Related
                     Progression in a Family Group
                           Andrea Michelerio1,2, Eloisa Arbustini3, Camilla Vassallo2


1 Department of Clinical-Surgical, Diagnostic and Pediatric Science, University of Pavia, Pavia, Italy
2 Dermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
3 Centre for Inherited Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy



Citation: Michelerio A, Arbustini E, Vassallo C. Brooke-Spiegler Syndrome: Age-Related Progression in a Family Group.
Dermatol Pract Concept. 2023;13(2):e2023082. DOI: https://doi.org/10.5826/dpc.1302a82
Accepted: July 15, 2022; Published: April 2023
Copyright: ©2023 Michelerio et al. This is an open-access article distributed under the terms of the Creative Commons
Attribution-NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted
noncommercial use, distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing Interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding Author: Andrea Michelerio, M.D., Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia,
and Dermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. E-mail: andrea.michelerio01@universitadipavia.it




Case Presentation                                                          gene was found in the three women, confirming the diag-
                                                                           nosis of Brooke-Spiegler syndrome (BSS).
A   56-year-old      woman      complained       about    numerous
skin-colored papules localized on the face, mostly on the
                                                                           Teaching Point
periorbital area, the nasolabial folds and the forehead
(­Figure 1, A and B). The first lesions had appeared during                BSS is a rare autosomal dominant inherited syndrome due to
early adulthood and had slowly grown in number and size                    germline mutations in the cylindromatosis (CYLD) gene, a
during the following years. Some had been removed and the                  tumor suppressor gene located on chromosome 16q12–q13.
histopathological examinations had revealed trichoepithelio-               The disease is characterized by multiple adnexal cutaneous
mas, cylindromas and an eccrine spiradenomas.                              neoplasms such as cylindromas, trichoepitheliomas, and spi-
    The 81-year-old mother of the proband presented                        radenomas [1,2]. These appear as multiple papules or nod-
numerous nontender, skin-colored nodules and papules,                      ules on the head and neck but can also arise on the trunk,
varying in size, especially on her forehead, nasolabial                    genitals and armpits. The neoplasms typically develop at pu-
folds, preauricular and occipital areas (Figure 1, C and                   berty and progressively accumulate through adulthood [1].
D). The 24-years-old daughter of the proband presented                     They are usually benign but may undergo malignant trans-
few barely detectable papules on the nasolabial folds                      formation in about 5%–10% of the patients [1]. Rarely sali-
(Figure 1, E and F). A heterozygous pathogenetic variant                   vary gland tumors can be found [1]. The treatment is limited
(c.2552dup p.His851Glnfs*39) in exon 19 of the CYLD                        to repeated surgical excisions.




Image Letter | Dermatol Pract Concept. 2023;13(2):e2023082                                                                                1
    Figure 1. Brooke-Spiegler syndrome. (A,B) The 56-year-old proband with multiple confluent
    skin-colored papules located on the face, especially in the periorbital area, in the nasolabial folds
    and forehead. (C,D) The 81-year-old mother of the proband with multiple discrete and confluent
    skin-colored papules and nodules. (E,F) The 24-years-old daughter of the proband, few barely
    detectable papules on the nasolabial folds (arrow).


2                                                               Image Letter | Dermatol Pract Concept. 2023;13(2):e2023082
References                                                      2. Andersson MK, Kölby L, Nilsson JA, Stenman G. Clinical,
                                                                   ­genetic and experimental studies of the Brooke-Spiegler (CYLD)
 1. Kazakov DV. Brooke-Spiegler Syndrome and Phenotypic Vari-       skin tumor syndrome. J Plast Surg Hand Surg. 2019;53(2):71-75.
    ants: An Update. Head Neck Pathol. 2016;10(2):125-130.          DOI: 10.1080/2000656X.2018.1547736. PMID: 30676842.
    DOI: 10.1007/s12105-016-0705-x. PMID: 26971504. PMCID:
    PMC4838966.




Image Letter | Dermatol Pract Concept. 2023;13(2):e2023082                                                                      3
