Pilomatriksoma
Özet
Pilomatriksoma (Malherbe tümörü), kıl folikülü matriksinden köken alan benign bir deri eki tümörüdür. Görülme sıklığı 10 yaş altı çocuklar ile 50 yaş üzeri yetişkinlerde zirve yapan bimodal bir dağılım sergilemektedir. Genellikle baş-boyun bölgesinde yavaş büyüyen, asemptomatik, sert ve soliter nodüller olarak izlenir. Cildin gerilmesiyle oluşan "çadır belirtisi", kalsifikasyon içeren yapısı nedeniyle klinik tanıda yardımcı bir bulgudur. Çoklu pilomatriksoma varlığı; Turner sendromu ve miyotonik distrofi başta olmak üzere çeşitli genetik sendromlarla güçlü ilişki gösterebilir. Histopatolojik olarak lezyon, periferde yerleşen bazofilik bazaloid hücreler ile merkezdeki çekirdeksiz hayalet (shadow) hücrelerin birlikteliğiyle karakterizedir. Patogenezinde, kıl folikülü diferansiyasyonunu etkileyen CTNNB1 genindeki beta-katenin mutasyonları ve Wnt sinyal yolağı aktivasyonu kritik rol oynar. Sitopatolojide, hücre baskınlığına bağlı olarak karsinomlarla karışabilen tuzaklar barındırabilir. Spontan regresyon göstermeyen bu tümörün standart tedavisi, nüksleri önlemek adına komplet cerrahi eksizyondur.
Pilomatrixoma, also known as Malherbe’s tumor, is a benign skin adnexal neoplasm originating from the hair follicle matrix. Its incidence exhibits a bimodal age distribution, most frequently affecting children under 10 and adults over 50 years of age. Clinically, it typically presents as a slow-growing, asymptomatic, firm, and solitary nodule, predominantly located in the head and neck region. The "tent sign," observed upon stretching the overlying skin, serves as a helpful diagnostic clue resulting from internal calcification. The presence of multiple pilomatrixomas can be associated with underlying genetic syndromes, most notably Turner syndrome and myotonic dystrophy. Histopathologically, the tumor is characterized by a combination of peripheral basophilic basaloid cells and central enucleated shadow (ghost) cells. Pathogenetically, mutations in the third exon of the CTNNB1 gene affecting beta-catenin and the subsequent activation of the Wnt signaling pathway play a crucial role in follicular differentiation. Fine-needle aspiration cytology can mimic malignancies due to single-cell component predominance, posing diagnostic pitfalls. Since spontaneous regression does not occur, the standard treatment remains complete surgical excision to prevent recurrences.
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