Nevüs Sebaseus
Özet
Sebasöz karsinom, tamamen sebasöz diferansiasyon gösteren nadir ve malign bir deri eki tümörüdür. Temel olarak perioküler ve ekstraoküler olmak üzere iki gruba ayrılan bu neoplazi, sıklıkla baş-boyun bölgesinde, orta ve ileri yaşlı bireylerde ortaya çıkar. Göz kapağındaki Meibom ve Zeis bezlerinden köken alan perioküler tip, genellikle üst kapakta ağrısız nodüller şeklinde prezente olurken; bazal veya skuamöz hücreli karsinom gibi lezyonlarla klinik olarak karıştırılabilmektedir. Tümörün kesin etiyolojisi bilinmemekle birlikte ultraviyole ışınları, radyoterapi ve Muir-Torre sendromu gibi genetik faktörler patogenezde rol oynamaktadır. Histopatolojik olarak, derin dermise infiltre olan irregüler lobüller, hücresel pleomorfizm, yüksek mitotik aktivite ve tümör nekrozu karakteristiktir. Tanısal süreçte, adipofilin, EMA ve androjen reseptörü (AR) gibi immunohistokimyasal belirteçler ayırıcı tanıda kritik önem taşır. Hem perioküler hem de ekstraoküler alt tipler benzer sağkalım oranlarına sahip olup, multisentrisite ve 1 cm'den büyük tümör boyutu kötü prognostik faktörler arasında yer almaktadır.
Sebaceous carcinoma is a rare, malignant skin adnexal tumor characterized by prominent sebaceous differentiation. Categorized into periocular and extraocular types, this neoplasm predominantly arises in the head and neck region of middle-aged and elderly individuals. The periocular type, originating from the Meibomian and Zeis glands, typically presents as painless nodules on the upper eyelid and is frequently misdiagnosed clinically as basal cell or squamous cell carcinoma. Although the exact etiology remains unknown, ultraviolet radiation, radiotherapy, and genetic predispositions like Muir-Torre syndrome contribute to its pathogenesis. Histopathologically, the tumor exhibits irregular lobules infiltrating the deep dermis, cellular pleomorphism, high mitotic activity, and comedo-like tumor necrosis. In the diagnostic workflow, immunohistochemical markers such as adipophilin, EMA, and androgen receptor (AR) play a pivotal role in differential diagnosis. Both periocular and extraocular subtypes demonstrate similar survival outcomes, while parameters including multicentricity and a tumor size larger than 1 cm represent well-established poor prognostic factors.
Referanslar
Kamyab-Hesari K, Seirafi H, Jahan S, vd. Nevus sebaceus: A clinicopathological study of 168 cases and review of the literature. International Journal of Dermatology. Blackwell Publishing Ltd; 2016;55(2): 193–200. doi:10.1111/ijd.12845
Patterson, JW. (2021) Weedon’s Skin Pathology. (5th ed.) Philadelphia, PA: Elsevier
Friedrich RE, Gosau M, Luebke AM, vd. Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey. In vivo (Athens, Greece). 2022;36(1): 274–293. doi:10.21873/invivo.12701
Wen Q, Zhao Z, Yang Y, vd. A rare case of nevus sebaceous of the bilateral labia minora: A case report and review of literature. Medicine. NLM (Medline); 2021;100(10): e25047. doi:10.1097/MD.0000000000025047
Calonje, E. Brenn,T. McKee, P. Lazar, A. (2020) McKee’s Pathology of the Skin, (5th ed.) Philadelphia, PA: Elsevier Saunders
Sarswat S, Dixit N. Schimmelpenning Syndrome. Indian pediatrics. NLM (Medline); 2018;55(11): 1014. doi:10.53347/rid-32258
Levinsohn JL, Tian LC, Boyden LM, vd. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. The Journal of investigative dermatology. J Invest Dermatol; 2013;133(3): 827–830. doi:10.1038/JID.2012.379
Chepla KJ, Gosain AK. Giant nevus sebaceus: Definition, surgical techniques, and rationale for treatment. Plastic and Reconstructive Surgery. 2012;130(2). doi:10.1097/PRS.0b013e3182589df2
Lam J, Dohil MA, Eichenfield LF, vd. SCALP syndrome: Sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: A distinct syndromic entity. Journal of the American Academy of Dermatology. 2008;58(5): 884–888. doi:10.1016/j.jaad.2007.09.029
Salman S, Fathalla W, Akbari H. Linear Nevus Sebaceous Syndrome in a Child With Infantile Spasms and Focal Cortical Dysplasia. Cureus. Cureus, Inc.; 2021;13(9): e17694. doi:10.7759/cureus.17694
Nicholson CL, Daveluy S. Epidermal Nevus Syndromes. StatPearls. 2022; http://www.ncbi.nlm.nih.gov/pubmed/32644429
Dwiyana RF, Hazari MN, Diana IA, vd. Schimmelpenning Syndrome with Large Nevus Sebaceous and Multiple Epidermal Nevi. Case reports in dermatology. S. Karger AG; 2020;12(3): 186–191. doi:10.1159/000509992
Aslam A, Salam A, Griffiths CEM, vd. Naevus sebaceus: A mosaic RASopathy. Clinical and Experimental Dermatology. 2014;39(1). doi:10.1111/ced.12209
Pepi C, de Palma L, Trivisano M, vd. The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. Brain sciences. MDPI AG; 2021;11(6). doi:10.3390/brainsci11060793
Babu CS, Pavithran K, Harris T. Naevus Sebaceous of Jadassohn. Indian Journal of Pediatrics. Springer; 2021;88(8): 843–844. doi:10.1007/s12098-020-03436-3
Cranwell WC, Walsh M, Winship I. Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. Australasian Journal of Dermatology. Blackwell Publishing; 2019;60(3): e245–e246. doi:10.1111/ajd.13007
Lim YH, Ovejero D, Sugarman JS, vd. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human molecular genetics. Hum Mol Genet; 2014;23(2): 397–407. doi:10.1093/HMG/DDT429
Ovejero D, Lim YH, Boyce AM, vd. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporosis International. Springer London; 2016;27(12): 3615–3626. doi:10.1007/s00198-016-3702-8
Elder, DE. (2015) Lever’s Histopathology of the Skin. (11th ed.) Philadelphia, PA: Wolters Kluwer
Mehregan AH, Pinkus H. Life History Of Organoid Nevi. Special Reference To Nevus Sebaceus Of Jadassohn. Archives of dermatology. Arch Dermatol; 1965;91(6): 574–588. doi:10.1001/ARCHDERM.1965.01600120006002
Jiao L, Han X, Xu J, vd. Four pediatric cases of secondary neoplasms arising in nevus sebaceous. Dermatologic Therapy. Blackwell Publishing Inc.; 2020;33(6). doi:10.1111/dth.13762
Hsu MC, Liau JY, Hong JL, vd. Secondary neoplasms arising from nevus sebaceus: A retrospective study of 450 cases in Taiwan. Journal of Dermatology. Blackwell Publishing Ltd; 2016;43(2): 175–180. doi:10.1111/1346-8138.13070
Chandramouli M, Sarma D, Tejaswy K, vd. Syringocystadenoma Papilliferum of the Scalp Arising from a Nevus Sebaceous. Journal of cutaneous and aesthetic surgery. Medknow Publications; 2016;9(3): 204–206. doi:10.4103/0974-2077.191656
Morgado-Carrasco D, Piquero-Casals J. Neoplasms Arising From Nevus Sebaceous. Journal of Cutaneous Medicine and Surgery. SAGE Publications Inc.; 2021; doi:10.1177/12034754211016292
Wang F, Wu Y, Zheng Z, vd. Syringocystadenoma papilliferum and trichoblastoma arising in the nevus sebaceous. Indian Journal of Pathology and Microbiology. Wolters Kluwer Medknow Publications; 2018;61(1): 106–108. doi:10.4103/IJPM.IJPM_613_16
BURDEN PA, GENTRY RH, FITZPATRICK JE. Piloleiomyoma arising in an organoid nevus: a case report and review of the literature. The Journal of dermatologic surgery and oncology. J Dermatol Surg Oncol; 1987;13(11): 1213–1222. doi:10.1111/J.1524-4725.1987.TB02433.X
Sehgal VN, Ramesh V, Ghorpade A. Naevus sebaceous associated with ocular dermolipoma. The Journal of dermatology. J Dermatol; 1984;11(1): 97–98. doi:10.1111/J.1346-8138.1984.TB01448.X
Tejaswi C, Rangaraj M, Karthikeyan K. Apocrine hidrocystoma arising from nevus sebaceous on the scalp. Indian dermatology online journal. Medknow; 2016;7(2): 111–113. doi:10.4103/2229-5178.178088
Chan SA, Hejmadi R, Webster K, vd. A unexpected growth arising within nevus sebaceous of Jadassohn. Dermatology Online Journal. Dermatology Online Journal; 2016;22(1).
Rao AG, Reddy VS, Tejal M, vd. Trichilemmoma Coexisting with Sebaceous Nevus. Indian dermatology online journal. Medknow; 2020;11(2): 253–255. doi:10.4103/idoj.IDOJ_91_19
An X, Huang Y. Desmoplastic trichilemmoma arising in a nevus sebaceous: a case report. International journal of clinical and experimental pathology. 2019;12(10): 3953–3955.
Jardim MML, e Souza B de C, Fraga RC, vd. Rare desmoplastic trichilemmoma associated with sebaceous nevus. Anais Brasileiros de Dermatologia. Sociedade Brasileira de Dermatologia; 2017;92(6): 836–837. doi:10.1590/abd1806-4841.20176540
Miller CJ, Ioffreda MD, Billingsley EM. Sebaceous carcinoma, basal cell carcinoma, trichoadenoma, trichoblastoma, and syringocystadenoma papilliferum arising within a nevus sebaceus. Dermatologic Surgery. BC Decker Inc.; 2004;30(12 II): 1546–1549. doi:10.1111/j.1524-4725.2004.30552.x
Massa LR, Stone MS. An unusual hematopoietic proliferation seen in a nevus sebaceous. Journal of the American Academy of Dermatology. J Am Acad Dermatol; 2000;42(5 Pt 2): 881–882. doi:10.1016/S0190-9622(00)90261-5
Azzam MJ, Beutler BD, Calame A, vd. Osteoma Cutis Associated with Nevus Sebaceus: Case Report and Review of Cutaneous Osteoma-associated Skin Tumors (COASTs). Cureus. Cureus, Inc.; 2019;11(6): e4959. doi:10.7759/cureus.4959
Fathaddin A, Almukhadeb E. A Rare Occurrence of Sebaceous Carcinoma, Sebaceoma, Syringocystadenoma Papilliferum, and Trichoblastoma in a Single Nevus Sebaceous Lesion. Case reports in dermatology. S. Karger AG; 2021;13(2): 271–277. doi:10.1159/000516351
Rosen H, Schmidt B, Lam HP, vd. Management of nevus sebaceous and the risk of Basal cell carcinoma: an 18-year review. Pediatric dermatology. Pediatr Dermatol; 2009;26(6): 676–681. doi:10.1111/J.1525-1470.2009.00939.X
Robinson AJ, Brown AP. Malignant melanoma arising in sebaceous naevus (of Jadassohn): a case report. Journal of Plastic Surgery and Hand Surgery. Taylor and Francis Ltd; 2016;50(4): 249–250. doi:10.3109/2000656X.2016.1147741
Mitchell DC, Kuehn GJ, Scott GA, vd. A Rare Case of Porocarcinoma and Trichoblastoma Arising in a Nevus Sebaceus of Jadassohn. Case reports in dermatological medicine. Hindawi Limited; 2021;2021: 7598086. doi:10.1155/2021/7598086
Achavanuntakul P, Thanomkitti K. Squamous Cell Carcinoma within a Congenital Nevus Sebaceous: Case Report and Literature Review. Case reports in dermatology. S. Karger AG; 2021;13(1): 75–82. doi:10.1159/000511692
Oh YW, Kim DH, Seo BH, vd. A Case of Cutaneous Spindle Cell Squamous Cell Carcinoma Arising in a Nevus Sebaceous. Annals of dermatology. Korean Dermatological Association; 2020;32(2): 170–171. doi:10.5021/ad.2020.32.2.170
Hashem R, Tynngård N, Lundmark K, vd. Microcystic adnexal carcinoma originating in a nevus sebaceous: A case report of a 16 year-old boy. Acta Dermato-Venereologica. Medical Journals/Acta D-V; 2019;99(12): 1182–1183. doi:10.2340/00015555-3272
Kurokawa I, Nishimura K, Yamanaka K ichi, vd. Immunohistochemical study of cytokeratin expression in nevus sebaceous. International journal of dermatology. Int J Dermatol; 2010;49(4): 402–405. doi:10.1111/J.1365-4632.2010.04274.X
Sellheyer K, Cribier B, Nelson P, vd. Basaloid tumors in nevus sebaceus revisited: the follicular stem cell marker PHLDA1 (TDAG51) indicates that most are basal cell carcinomas and not trichoblastomas. Journal of cutaneous pathology. J Cutan Pathol; 2013;40(5): 455–462. doi:10.1111/CUP.12107
Leblebici C, Bambul Sığırcı B, Kelten Talu C, vd. CD10, TDAG51, CK20, AR, INSM1, and Nestin Expression in the Differential Diagnosis of Trichoblastoma and Basal Cell Carcinoma. International Journal of Surgical Pathology. SAGE Publications Inc.; 2019;27(1): 19–27. doi:10.1177/1066896918781719
Takata M, Tojo M, Hatta N, vd. No evidence of deregulated patched-hedgehog signaling pathway in trichoblastomas and other tumors arising within nevus sebaceous. The Journal of investigative dermatology. J Invest Dermatol; 2001;117(6): 1666–1670. doi:10.1046/J.0022-202X.2001.01581.X
Green TE, MacGregor D, Carden SM, vd. Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome . Molecular Case Studies. Cold Spring Harbor Laboratory; 2021;7(6): a006133. doi:10.1101/mcs.a006133
Happle R. Nevus sebaceus is a mosaic RASopathy. [Çevrimiçi] Journal of Investigative Dermatology. 2013. s. 597–600. doi:10.1038/jid.2012.447
Saraggi D, Salmaso R, Valentini E, vd. Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver. Pathology Research and Practice. Elsevier GmbH; 2017;213(7): 860–862. doi:10.1016/j.prp.2017.03.012
Moody MN, Landau JM, Goldberg LH. Nevus sebaceous revisited. Pediatric Dermatology. 2012;29(1): 15–23. doi:10.1111/j.1525-1470.2011.01562.x
