Epidermal Nevus Syndrome Questions & Answers

1. Happle R. Gustav Schimmelpenning and the syndrome bearing his name. Dermatology. 2004. 209(2):84-7. [Medline].

2. Mall V, Heinen F, Uhl M, Wellens E, Korinthenberg R. CNS lipoma in patients with epidermal nevus syndrome. Neuropediatrics. 2000 Aug. 31(4):175-9. [Medline].

3. Mitchell BJ, Rogers GF, Wood BC. A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation. J Craniofac Surg. 2019 Jan. 30 (1):184-185. [Medline].

4. Nagatsuma M, Takasawa K, Yamauchi T, Nakagawa R, Mizuno T, Tanaka E, et al. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. J Hum Genet. 2019 Feb. 64 (2):177-181. [Medline].

5. Altman J, Mehregan AH. Inflammatory linear verrucose epidermal nevus. Arch Dermatol. 1971 Oct. 104(4):385-9. [Medline].

6. Vidaurri-de la Cruz H, Tamayo-Sanchez L, Duran-McKinster C, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R. Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol. 2004 Jul-Aug. 21(4):432-9. [Medline].

7. Chantorn R, Shwayder T. Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. Pediatr Dermatol. 2011 Nov-Dec. 28(6):715-9. [Medline].

8. Loh SH, Lew BL, Sim WY. A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. Am J Dermatopathol. 2018 Feb. 40 (2):131-135. [Medline].

9. Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, et al. Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell. J Invest Dermatol. 2013 Jan 21. [Medline].

10. Happle R. Linear Cowden nevus: a new distinct epidermal nevus. Eur J Dermatol. 2007 Mar-Apr. 17(2):133-6. [Medline].

11. Bakhach M, Abbas O, Kibbi AG, Kurban M, Jundi MA. Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome?. Int J Dermatol. 2013 Mar 3. [Medline].

12. Igawa S, Honma M, Minami-Hori M, Tsuchida E, Iizuka H, Ishida-Yamamoto A. Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi. J Dermatol. 2016 Jan. 43 (1):103-4. [Medline].

13. Heike CL, Cunningham ML, Steiner RD, et al. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?. Am J Med Genet A. 2005 Dec 1. 139A(2):67-77. [Medline].

14. Garcia-Vargas A, Hafner C, Perez-Rodriguez AG, et al. An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A. 2008 Sep 1. 146A(17):2275-9. [Medline].

15. Ousager LB, Bygum A, Hafner C. Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal nevus syndrome. Br J Dermatol. 2012 Jan 9. [Medline].

16. Farschtschi S, Mautner VF, Hollants S, Hagel C, Spaepen M, Schulte C, et al. Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation. BMC Med Genet. 2015 Feb 10. 16(1):6. [Medline]. [Full Text].

17. Lihua J, Feng G, Shanshan M, Jialu X, Kewen J. Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review. Medicine (Baltimore). 2017 Nov. 96 (47):e8016. [Medline].

18. Rijntjes-Jacobs EG, Lopriore E, Steggerda SJ, Kant SG, Walther FJ. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. Am J Med Genet A. 2010 Nov. 152A(11):2816-9. [Medline].

19. Happle R. Epidermal nevus syndromes. Semin Dermatol. 1995 Jun. 14(2):111-21. [Medline].

20. Rogers M, McCrossin I, Commens C. Epidermal nevi and the epidermal nevus syndrome. A review of 131 cases. J Am Acad Dermatol. 1989 Mar. 20(3):476-88. [Medline].

21. Sheppard SE, Smith A, Grand K, Pogoriler J, Rubin AI, Schindewolf E, et al. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. Am J Med Genet A. 2020 Apr. 182 (4):746-754. [Medline].

22. Ball EA, Hussain M, Moss AL. Squamous cell carcinoma and basal cell carcinoma arising in a naevus sebaceous of Jadassohn: case report and literature review. Clin Exp Dermatol. 2005 May. 30(3):259-60. [Medline].

23. Wu ZW, Shi WM, Sun Y, Li XJ, Song J. Cutaneous spindle cell squamous cell carcinoma in nevus sebaceous. Int J Dermatol. 2010 Dec. 49(12):1429-31. [Medline].

24. Liu Y, Valdebran M, Chen J, Elbendary A, Wu F, Xu M. Nevus Sebaceous of Jadassohn With Eight Secondary Tumors of Follicular, Sebaceous, and Sweat Gland Differentiation. Am J Dermatopathol. 2016 Apr 19. [Medline].

25. Miyagawa Y, Nakazawa M, Kudoh T. Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue. Jpn J Ophthalmol. 2010 Jan. 54(1):15-8. [Medline].

26. Menni S, Boccardi D, Gualandri L. Keratinocytic epidermal nevus with oral involvement and cleft palate. G Ital Dermatol Venereol. 2008 Oct. 143(5):347-9. [Medline].

27. Castori M, Annessi G, Castiglia D, et al. Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome. Am J Med Genet A. 2010 Jan. 152A(1):25-31. [Medline].

28. Akingboye A, Schultz H, Taylor GA. Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. Cutis. 2017 Jan. 99 (1):61-64. [Medline].

29. Shahgholi E, Mollaian M, Haghshenas Z, Honarmand M. Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome. J Pediatr Endocrinol Metab. 2011. 24(11-12):1063-6. [Medline].

30. Hato N, Tsujimura M, Takagi T, Okada M, Gyo K, Tohyama M, et al. Infantile inflammatory pseudotumor of the facial nerve as a complication of epidermal nevus syndrome with cholesteatoma. Auris Nasus Larynx. 2013 Feb 19. [Medline].

31. Mahto M, Ashworth J, Vickers DM. A case of linear epidermal naevus presenting as genital warts--a cautionary tale. Int J STD AIDS. 2005 Mar. 16(3):267-9. [Medline].

32. 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 Feb 2. [Medline].

33. Idriss MH, Elston DM. Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases. J Am Acad Dermatol. 2014 Feb. 70(2):332-7. [Medline].

34. Pernet C, Munoz J, Bessis D. [PENS (papular epidermal nevus with "skyline" basal cell layer)]. Ann Dermatol Venereol. 2015 Jan. 142(1):41-5. [Medline].

35. Zahn CA, Itin P. Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. Case Rep Dermatol. 2017 Jan-Apr. 9 (1):1-5. [Medline].

36. De Vito A, Taranath A, Dahmoush H, Ganapathy SS, Sudhakar S, Mankad K. Neuroimaging manifestations of epidermal nevus syndrome. Quant Imaging Med Surg. 2021 Jan. 11 (1):415-422. [Medline].

37. Wortsman X, Ferreira-Wortsman C, Corredoira Y. Ultrasound Imaging of Nevus Sebaceous of Jadassohn. J Ultrasound Med. 2021 Feb. 40 (2):407-415. [Medline].

38. Jaqueti G, Requena L, Sanchez 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 Apr. 22(2):108-18. [Medline].

39. Micali G, Nasca MR, Musumeci ML. Effect of topical calcipotriol on inflammatory linear verrucous epidermal nevus. Pediatr Dermatol. 1995 Dec. 12(4):386-7. [Medline].

40. Zvulunov A, Grunwald MH, Halvy S. Topical calcipotriol for treatment of inflammatory linear verrucous epidermal nevus. Arch Dermatol. 1997 May. 133(5):567-8. [Medline].

41. Davison SP, Khachemoune A, Yu D, Kauffman LC. Nevus sebaceus of Jadassohn revisited with reconstruction options. Int J Dermatol. 2005 Feb. 44(2):145-50. [Medline].

42. Winston KR, Kang J, Laoprasert P, Kleinschmidt-DeMasters BK. Hemispherectomy in a premature neonate with linear sebaceous nevus syndrome. Pediatr Neurosurg. 2008. 44(2):159-64. [Medline].

43. Kiedrowicz M, Kacalak-Rzepka A, Królicki A, Maleszka R, Bielecka-Grzela S. Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome. Postepy Dermatol Alergol. 2013 Oct. 30(5):320-3. [Medline]. [Full Text].

44. Lefkowitz A, Schwartz RA, Lambert WC. Nevus comedonicus. Dermatology. 1999. 199(3):204-7. [Medline].

45. Miteva LG, Dourmishev AL, Schwartz RA. Inflammatory linear verrucous epidermal nevus. Cutis. 2001 Nov. 68(5):327-30. [Medline].

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Warsaw Medical University, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

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