Pedigree of multiple benign adnexal tumours of Brooke–Spiegler type

Abstract

A pedigree of autosomal dominant expression of multiple benign adnexal tumours is presented. Seven cases spanning three generations are discussed. The clinical manifestations of these tumours are quite variable, including multiple papules concentrated on the face, scalp nodules and a large turban tumour. One member of the family had a linear papular eruption involving one half of his body. Histopathology of all lesions demonstrated benign adnexal characteristics, including well-characterized eccrine spiradenomas, trichoepitheliomas and an eccrine cylindroma. The cutaneous tumours occurring in these patients have continued to develop during their lifetimes. The authors propose that this pedigree has phenotypic characteristics consistent with Brooke-Spiegler syndrome.

Case of the Brooke–Spiegler syndrome

“…The fact that the patient's children are too young yet to have developed any features of the syndrome may further explain the absence of features in this family. The disease also demonstrates variable clinical and histological expression between family members 12,13 . When present, older members tend to have larger and greater number of lesions than younger members 12 …”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…Cylindromas predominate on the scalp, while trichoepitheliomas occur on the face, particularly around the nose [44]. Tumours increase in size and number with age and carry a risk of malignant transformation [45].…”

Zylindromatose

“…Multiple Zylindrome formen häufig am Kopf einen Turban und werden dann auch als Turban-Tumor bezeichnet [6]. Typischerweise nehmen die Anzahl und die Größe der Tumoren im Verlauf des Lebens zu [9].…”