Brooke Spiegler Syndrome-A Case Report (original) (raw)
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Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma
International Journal of Dermatology, 2013
Brooke-Spiegler syndrome is a rare, autosomally dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas. We report herein a case of Brooke-Spiegler syndrome in a 55-year-old woman associated with multiple cylindromas, spiradenomas, trichoepitheliomas, and syringomas that developed on her face. Her 52-year-old sister also suffered from multiple trichoepitheliomas. Although there is variable clinical and histological expression in Brooke-Spiegler syndrome, all of the tumors encountered in our case were related to folliculosebaceous-apocrine units.
Brooke-Spiegler syndrome: A rare entity
International Journal of Trichology, 2012
Brooke-Spiegler syndrome is a rare entity. It is an autosomal dominant syndrome in which multiple trichoepitheliomas, cylindromas, or other adnexal tumors are seen. Very few cases of Brooke-Spiegler syndrome are reported in the literature. We came across a 40 -year-old female in which multiple trichoepitheliomas and cylindromas were seen on scalp. In view of clinical history and histopathological examination it was diagnosed as Brooke-Spiegler syndrome. We report this case because of its rarity.
2011
Brooke- Spiegler syndrome is an uncommon autosomal dominant disorder, only few cases have been reported. Herein, we report a patient with this rare condition. A 26 year old woman with Brooke-Spiegler syndrome (BSS) has multiple cutaneous adenxal neoplasms on her face and scalp. Clinical features, histopathogical spectrum, pathogenesis, malignant transformation and treatment modalities are reviewed.
Journal of Dermatological Case Reports, 2015
Background: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. Main observations: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. Conclusions: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".
Brooke-Spiegler Syndrome: A rare cause of skin appendageal tumor
Archives of Case Reports, 2018
A 51-year-old women presented with asymptomatic multiple polypoidal nodules over scalp with simultaneous papularnodular skin eruptions involving nose, nasolabial folds and forehead for 40 years duration. Her daughter also noted to be having multiple papularnodular skin eruptions involving nose, nasolabial folds and forehead which raised curiosity of possible familial condition. The punch biopsy of polypoidal nodule indicating histological evidence of spiradenoma was favour in diagnosis of Brook Spienger Syndrome. We report this case as this is a rare clinical entity.
Diagnostic Cytopathology, 2015
Multiple dermal cylindromas and membranous basal cell adenoma of parotid gland in a 67-year-old woman with Brooke-Spiegler syndrome (BSS) were examined by fine-needle cytology. Histology, immunochemistry, and CYLD germline mutation testing were also performed. Cytomorphology and immunochemistry of the two lesions showed basaloid neoplasms, remarkably similar, composed by proliferating epithelial cells of basal type accompanied by a smaller proportion of myoepithelial cells. CYLD gene showed a novel germline splice acceptor site mutation (c.2042-1G>C) with skipping of the entire exon 15. The occurrence of analogous tumors, dermal cylindromas, and membranous basal cell adenoma of the parotid gland, in the same patient may result from the action of a single gene on ontogenetically similar stem cells. Therefore, patients with BSS should be offered a genetic counselling for an early and correct diagnosis.
International Journal of Surgery Case Reports, 2018
INTRODUCTION: The authors present a "four-step" integrated surgical protocol to treat a rare case of multiple giant eccrine spiradenoma (ES) of the head and neck in a young patient. PRESENTATION OF CASE: An 18-year-old female patient presented with multiple swellings in the head and neck regions. The patient had a severe psychological trauma with a negative impact on her social life. Physical examination revealed multiple papulo-nodular swellings measuring between 5 cm × 8 cm and up to 10 cm × 20 cm in size with cerebriform aspect and soft consistency. Major lesions were located in the scalp, frontal area, neck, occipitotemporal, and retroauricular regions. Tissue biopsy found a benign composite adnexal neoplasm consisted in ES, trichoepithelioma, and cylindroma, a typical feature of Brooke-Spiegler Syndrome. A staged excision was planned, and available reconstructive options were considered. Scalp reconstruction included tissue expansions, advancement flaps, skin grafts, and dermal regeneration template (Integra ®). All treatments were successful, and no recurrence was observed. The patient returned to a normal social life, and a radical excision with satisfying aesthetic results was achieved. DISCUSSION: Although adnexal tumors are benign in most of the cases, these lesions are prone to arise in the craniofacial region, thereby causing aesthetic discomfort associated with pain, hemorrhage, and infection to the patient every day. Furthermore, there is a potential risk of malignant transformation. These concerns demonstrate the need to establish a surgical protocol for the treatment of adnexal tumors. CONCLUSIONS: Our integrated surgical approach showed excellent aesthetic and functional results with benefits to the patient's life and complete oncological excision.
Acta Dermatovenerologica Alpina Pannonica et Adriatica
Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromosome 16q12-q13. An increased risk of malignant transformation of adnexal cutaneous tumors in BSS patients has been reported. However, no reported genetic markers identify patients at risk of cutaneous malignancy. This study reviews published cases of BSS to investigate the role of clinical parameters as biomarkers of skin malignancy. A comprehensive review of the clinical aspects of BSS is based on 55 case reports. Our analysis revealed only age as a predictor of malignancy; however, this is also a general risk factor for development of malignancy and therefore of limited value as a screening tool. The study highlights the need for standardized clinical follow-up of patients.