Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity.

It is generally believed that Ancell (1842) first described the inherited scalp tumours (Fig. 1) that later (Billroth, 1859) became known as dermal cylindromas. Subsequently the condition became associated with the name of Spiegler (1899) who reviewed extensive case material and introduced the term endothelioma capitis. There followed many descriptive accounts qualified by at least 20 different names of which only 'turban tumours' has remained in frequent usage. The term Ancell-Spiegler cylindromas will be employed here for lesions affecting mainly the scalp. In September 1892 Brooke reported a family in which multiple small tumours involved the facial skin in some members. He favoured the term epithelioma adenoides cysticum. In December of the same year (1892), Fordyce described a mother and daughter with an apparently similar condition which he called multiple benign cystic epithelioma (Fig. 2). Both authors emphasized the origin of tumours from the basal cell layer of the epidermis and from hair follicles. The latter site appeared most significant to Jarisch (1894) who coined the term trichoepithelioma papulosum multiplex. All three descriptive terms are now regarded as synonymous and Brooke-Fordyce trichoepithelioma appears a reasonable compromise. A clinical overlap between the two groups was noted early (Adamson, 1914), but it does not seem to have been established whether they are two separate conditions or variants of the same disorder first described by Ancell. Cockayne (1933) clearly believed both types of tumours to be manifestations of the same condition. It is our purpose to review and present new evidence supporting this hypothesis. Tumour dimorphism exists at the histological level (Watanabe, 1922; Gray and Helwig, 1963), but Savatard (1938) re-examined members of Brooke's original family at intervals and demonstrated histological features of each tumour type in the same affected person. Guggenheim (1962) described biopsy findings from a patient with both tumours; cords of basophilic cells surrounded by a hyaline membrane were obtained from scalp cylindromas and cystic material from nasal skin lesions contained horn cells typical of a trichoepithelioma. Sweat duct adenomas (syringomas) may coexist with trichoepitheliomas (Ingels, 1935), but the relation between the two forms of tumours is not clear. Malignant changes (basal cell epithelioma) have been noted occasionally in cylindromas (Luger, 1949) and trichoepitheliomas (Ziprkowski and Schewach-Millet, 1966); but the situation is complicated by the frequent prior history of x-ray therapy in the former cases and possibly confusion with the inherited basal cell naevus syndrome in early reports (e.g. Adamson, 1914) of the latter. Autosomal dominant inheritance has been demonstrated for Ancell-Spiegler cylindromas and BrookeFordyce trichoepitheliomas either singly or in combination (Chalstrey, 1955; Guggenheim, 1962). In one family there was segregation of isolated cylindromas in a mother and other maternal relatives, with trichoepitheliomas alone appearing in a son (Whiffen, 1963). Although an excess of males has been noted in some families (Fuss, 1928; Kerl, 1930), Guggenheim (1962) reviewed case reports of both conditions and demonstrated a predilection for females as compared to males, respectively 132 to 80 affected. Sibships in early reports frequently lack information on those supposedly unaffected, so that the apparent excess of females cannot be examined further in recorded material. In addition it is probable that women would be more likely to seek