Epithelioma adenoides cysticum, also known as Jadassohn-Lewandowsky syndrome or multiple trichoepitheliomas, is a rare genetic disorder primarily affecting the skin. It is characterized by the development of numerous benign tumors called trichoepitheliomas on the face, particularly around the nose, cheeks, and forehead.
Trichoepitheliomas are small, flesh-colored or slightly reddish nodules that arise from the hair follicles. These tumors are typically raised, firm, and have a central depression or pit, giving them a characteristic appearance. The growths may be found in clusters and can become quite numerous over time. While they are generally benign, they can cause cosmetic concerns and may become tender or irritated.
Epithelioma adenoides cysticum is usually inherited in an autosomal dominant pattern, meaning individuals with a single copy of the mutated gene from an affected parent have a 50% chance of developing the condition. The disorder is caused by mutations in multiple genes, including the CYLD gene.
In addition to trichoepitheliomas, other features such as basal cell carcinomas, cysts, and other skin abnormalities may be present in some individuals. While non-surgical treatments like cryotherapy or laser therapy can minimize the number of tumors, complete eradication is challenging, and recurrences are common.
Close monitoring by a dermatologist and early intervention are essential to manage potential complications and ensure proper treatment. Genetic counseling and support groups can also be beneficial for individuals and families affected by epithelioma adenoides cysticum.
