Brooke-Spiegler syndrome is a rare autosomal dominant condition associated with numerous nodular, adnexal tumors localized to the face, scalp, and neck, with less frequent involvement of the trunk and extremities. It predominantly affects women, with the male to female ratio of 1:6-9.6, and exact incidence is unknown. Most nodules are 0.5 to 3 cm in size, although larger lesions may occasionally be seen. Histologically, these nodules correspond to spiradenomas, cylindromas, and trichoepitheliomas. Multiple familial trichoepitheliomas are a phenotypic variant of the disease that is characterized by numerous trichoepitheliomas without the presence of other adnexal tumors. These trichoepitheliomas tend to be localized to the nasolabial fold and inner aspects of the eyebrows. A second variant, familial cylindromatosis, is characterized by the presence of numerous cylindromas. Scalp cylindromas may become numerous enough to eventually cover the entire scalp and result in hair loss (referred to as “turban tumor”).
In those suspected of the disease, biopsy specimens are warranted to aid in the diagnosis of Brooke-Spiegler syndrome. While most lesions are histologically pure, neoplasms with hybrid features, such as spiradenocylindromas, spiradenoma-trichoepitheliomas, cylindroma-trichoepitheliomas, or the concurrence of all 3 tumors in 1 lesion, may also be seen. The CYLD tumor suppressor gene on chromosome 16 has been implicated in the pathogenesis of Brooke-Spiegler syndrome and its phenotypic variants. Genetic testing for a mutation in this gene may confirm the diagnosis. Biopsies are important, as there can also be transformation to malignancy including basal cell carcinomas.
Usually associated with rapid enlargement, ulceration, and bleeding, malignant transformation of lesions occurs in 5% to 10% of patients with Brooke-Spiegler syndrome. Close clinical follow-up is warranted to identify these changes. Extensive involvement of the eyelids and external auditory meatus may lead to blindness and deafness, respectively. In addition, patients have an increased risk of adenocarcinoma of the major and minor salivary glands, with parotid gland tumors most commonly reported.
Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms
Few homoeopathic medicine can be thought of in the management of Brooke-Spiegler syndrome are:
Calcarea flour., phosphorus, silicea, conium, calcarea carb., etc.