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Nevus sebaceus and nevus sebaceus syndrome

Teresa S Wright, MD, FAAD, FAAP
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc


Nevus sebaceus, also called nevus sebaceus of Jadassohn or organoid nevus, is a benign hamartoma of the skin, characterized by hyperplasia of the epidermis, immature hair follicles, and sebaceous and apocrine glands. Lesions are usually present at birth and appear as waxy, yellow-orange or tan, hairless plaques (picture 2C). They have a tendency to thicken and become more verrucous over time, especially around the time of puberty [1].

Nevus sebaceus and the nevus sebaceus syndrome, also called Schimmelpenning syndrome, will be reviewed in this topic. The linear epidermal nevus and epidermal nevus syndrome are discussed separately. (See "Epidermal nevus and epidermal nevus syndrome".)


Nevus sebaceus occurs in approximately 0.3 percent of newborns, without sex predilection. It is usually sporadic, but familial cases have been reported [2,3].


Nevus sebaceus and nevus sebaceus syndrome (Schimmelpenning syndrome) are thought to be caused by postzygotic mosaic mutations in the HRAS or KRAS genes [4], although isolated cases due to mosaic mutations in NRAS and FGFR2 have also been reported [5,6]. Along with phacomatosis pigmentokeratotica, cutaneous-skeletal hypophosphatemia syndrome (CSHS), keratinocytic epidermal nevi, and some melanocytic nevi, they are included in the group of the so-called mosaic RASopathies [7,8]. (See 'Phacomatosis pigmentokeratotica' below.)

RAS promotes cell growth through activation of multiple pathways, including the mitogen-activated protein kinase (MAPK) signal-transduction pathway. Activating germline mutations in this gene family are involved in the pathogenesis of several inherited malformation syndromes (eg, Costello syndrome, Noonan syndrome, neurofibromatosis 1, Legius syndrome), some of which are associated with an increased risk of cancer. (See "Causes of short stature", section on 'Noonan syndrome' and "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis".)

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Literature review current through: Oct 2017. | This topic last updated: Nov 15, 2017.
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  1. Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part I. J Am Acad Dermatol 2009; 61:549.
  2. Happle R, König A. Familial naevus sebaceus may be explained by paradominant transmission. Br J Dermatol 1999; 141:377.
  3. Hughes SM, Wilkerson AE, Winfield HL, Hiatt KM. Familial nevus sebaceus in dizygotic male twins. J Am Acad Dermatol 2006; 54:S47.
  4. Groesser L, Herschberger E, Ruetten A, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 2012; 44:783.
  5. Kuroda Y, Ohashi I, Enomoto Y, et al. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. Am J Med Genet A 2015; 167A:2223.
  6. Kuentz P, Fraitag S, Gonzales M, et al. Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. Br J Dermatol 2017; 176:204.
  7. Luo S, Tsao H. Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies. J Invest Dermatol 2014; 134:2493.
  8. Lim YH, Ovejero D, Derrick KM, et al. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. J Am Acad Dermatol 2016; 75:420.
  9. Sun BK, Saggini A, Sarin KY, et al. Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. J Invest Dermatol 2013; 133:824.
  10. Levinsohn JL, Tian LC, Boyden LM, et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 2013; 133:827.
  11. Happle R. Nevus sebaceus is a mosaic RASopathy. J Invest Dermatol 2013; 133:597.
  12. Jaqueti G, Requena L, Sánchez Yus E. Trichoblastoma is the most common neoplasm developed in nevus sebaceus of Jadassohn: a clinicopathologic study of a series of 155 cases. Am J Dermatopathol 2000; 22:108.
  13. Simi CM, Rajalakshmi T, Correa M. Clinicopathologic analysis of 21 cases of nevus sebaceus: a retrospective study. Indian J Dermatol Venereol Leprol 2008; 74:625.
  14. Wiedemeyer K, Hartschuh W. Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges 2009; 7:612.
  15. Robinson AJ, Brown AP. Malignant melanoma arising in sebaceous naevus (of Jadassohn): a case report. J Plast Surg Hand Surg 2016; 50:249.
  16. Moody MN, Landau JM, Goldberg LH. Nevus sebaceous revisited. Pediatr Dermatol 2012; 29:15.
  17. Cribier B, Scrivener Y, Grosshans E. Tumors arising in nevus sebaceus: A study of 596 cases. J Am Acad Dermatol 2000; 42:263.
  18. Santibanez-Gallerani A, Marshall D, Duarte AM, et al. Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases, and literature review. J Craniofac Surg 2003; 14:658.
  19. Rosen H, Schmidt B, Lam HP, et al. Management of nevus sebaceous and the risk of Basal cell carcinoma: an 18-year review. Pediatr Dermatol 2009; 26:676.
  20. Idriss MH, Elston DM. Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases. J Am Acad Dermatol 2014; 70:332.
  21. Hsu MC, Liau JY, Hong JL, et al. Secondary neoplasms arising from nevus sebaceus: A retrospective study of 450 cases in Taiwan. J Dermatol 2016; 43:175.
  22. Liu Y, Valdebran M, Chen J, et al. Nevus Sebaceous of Jadassohn With Eight Secondary Tumors of Follicular, Sebaceous, and Sweat Gland Differentiation. Am J Dermatopathol 2016; 38:861.
  23. Namiki T, Miura K, Ueno M, et al. Four Different Tumors Arising in a Nevus Sebaceous. Case Rep Dermatol 2016; 8:75.
  24. Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg 2007; 26:221.
  25. Happle R. Cutaneous manifestation of lethal genes. Hum Genet 1986; 72:280.
  26. Davies D, Rogers M. Review of neurological manifestations in 196 patients with sebaceous naevi. Australas J Dermatol 2002; 43:20.
  27. Trivedi N, Nehete G. Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting. Indian J Ophthalmol 2013.
  28. Nema N, Singh K, Verma A. Complex limbal choristoma in nevus sebaceous syndrome. Pediatr Dermatol 2012; 29:227.
  29. Park JM, Kim DS, Kim J, et al. Epibulbar complex choristoma and hemimegalencephaly in linear sebaceous naevus syndrome. Clin Exp Dermatol 2009; 34:e686.
  30. Grebe TA, Rimsza ME, Richter SF, et al. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. Am J Med Genet 1993; 47:24.
  31. Narazaki R, Ihara K, Namba N, et al. Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23. Pediatr Nephrol 2012; 27:861.
  32. Happle R, Hoffmann R, Restano L, et al. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 1996; 65:363.
  33. Groesser L, Herschberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013; 133:1998.
  34. Lim YH, Ovejero D, Sugarman JS, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet 2014; 23:397.
  35. Happle R. The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 2010; 63:1.
  36. Jennings L, Cummins R, Murphy GM, et al. HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. Clin Exp Dermatol 2017; 42:791.
  37. Chantorn R, Shwayder T. Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. Pediatr Dermatol 2011; 28:715.
  38. Martin RJ, Arefi M, Splitt M, et al. Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. Br J Dermatol 2017.
  39. Tara A, Sada A, Inoue T, et al. A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. Acta Derm Venereol 2011; 91:602.
  40. de Morais OO, Costa LO, Shinzato DH, et al. Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. Skinmed 2013; 11:125.
  41. Bouthors J, Vantyghem MC, Manouvrier-Hanu S, et al. Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol 2006; 155:225.
  42. Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, et al. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol 2005; 22:44.
  43. Om A, Cathey SS, Gathings RM, et al. Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. Pediatr Dermatol 2017; 34:352.
  44. Jacobelli S, Leclerc-Mercier S, Salomon R, et al. Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. Acta Derm Venereol 2010; 90:279.
  45. Brandling-Bennett HA, Morel KD. Epidermal nevi. Pediatr Clin North Am 2010; 57:1177.
  46. Torrelo A, Boente Mdel C, Nieto O, et al. Nevus psiloliparus and aplasia cutis: a further possible example of didymosis. Pediatr Dermatol 2005; 22:206.
  47. Tekin B, Yücelten AD, Akpınar IN, Ekinci G. Coexistence of aplasia cutis and nevus psiloliparus--report of a novel case. Pediatr Dermatol 2014; 31:746.
  48. Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009; 46:721.