Ann Dermatol.  2011 Sep;23(Suppl 1):S36-S40. 10.5021/ad.2011.23.S1.S36.

Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma

• Go JW
• Kim SH
• Yi SY
• Cho HK

• KMID: 2156747
• DOI: http://doi.org/10.5021/ad.2011.23.S1.S36

Abstract

Basal cell nevus syndrome (BCNS), or Gorlin Syndrome, is an autosomal dominant disorder, characterized by multiple developmental abnormalities and associated with germline mutations in the PTCH gene. Patients show multiple and early onset basal cell carcinomas (BCCs) in skin, odontogeniccysts in the jaw, pits on palms and soles, medulloblastoma, hypertelorism, and calcification of the falx cerebri. Clinical features of BCCs in these patients are indistinguishable from ordinary BCCs. However, some patients show variable histologic findings in subtypes of BCCs, and only one case associated with several histologic types of BCCs in the syndrome has been reported in Korea. We present a case of BCNS characterized by multiple BCCs, odontogenic keratocysts, multiple palmar pits, and calcified falx cerebri. Histopathologic findings of BCCs showed several patterns, which were nodular, superficial, and pigmented types.

Keyword

Carcinoma, basal cell; Basal cell nevus syndrome; Neoplasms by histologic type

MeSH Terms

Basal Cell Nevus Syndrome
Carcinoma, Basal Cell
Germ-Line Mutation
Humans
Hypertelorism
Jaw
Korea
Medulloblastoma
Neoplasms by Histologic Type
Odontogenic Cysts
Skin

Figure

• 

  Fig. 1 Nodular pigmented lesion with a rolled border on the right nasolabial fold (A). Multiple, various-sized pigmented lesions on the upper back, some of which are flat, erythematous, well-circumscribed, hyperpigmented patches (B, C). Dark colored and ulcerative plaque on the right thigh (D)

• 

  Fig. 2 Multiple pits on the palm (A). Skull X-ray shows ectopic calcification in the falx cerebri (B) and facial CT shows a well-defined round cystic mass in the left maxillary sinus with peripheral thin wall calcification (C).

• 

  Fig. 3 Histologic findings. Nodular type (nasolabial fold); a number of round or oval tumor islands and stromal retraction within the upper to mid dermis (A). Superficial type (back); multiple buds of basophilic cells extending into the papillary dermis from the basal layer of the epidermis (B). Mixed pattern (thigh); features of superficial, nodular, and some pigmented types (C) (H&E, ×100).

Reference

1. Lo Muzio L, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc. 1999. 130:669–674.

2. Yordanova I, Gospodinov D, Kirov V, Pavlova V, Radoslavova G. A familial case of Gorlin-Goltz syndrome. J IMAB-Annual Proceeding (Scientific Papers). 2007. 13:59–63.

3. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008. 3:32.

4. Kim HM, Lee CH, Kim SK, Sung TJ. Basal cell nevus syndrome (Gorlin syndrome) confirmed by PTCH mutations and deletions. Korean J Pediatr. 2007. 50:789–793.

5. Ryu DJ, Kwon YS, Roh MR, Lee MG. Two cases of nevoid basal cell carcinoma syndrome in one family. Ann Dermatol. 2008. 20:221–225.

6. Zackheim HS, Loud AV, Howell JB. Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions. Arch Dermatol. 1966. 93:317–323.

7. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004. 6:530–539.

8. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987. 66:98–113.

9. Joh GY, Kim KH, Nam JT, Kim YS, Lee BK. Two cases of nevoid basal cell carcinoma syndrome. Korean J Dermatol. 1992. 30:951–957.

10. Goldstein AM, Stewart C, Bale AE, Bale SJ, Dean M. Localization of the Gene for the Nevoid Basal Cell Carcinoma Syndrome. Am J Hum Genet. 1994. 54:765–773.

11. White JC. Multiple benign cystic epitheliomas. J Cutan Genitourin Dis. 1894. 12:477–484.

12. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med. 1960. 262:908–912.

13. Howell JB, Anderson DE. "The basal-cell nevus" by Howell and Caro, January 1959. Commentary: The nevoid basal cell carcinoma syndrome. Arch Dermatol. 1982. 118:813–826.

14. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993. 30:460–464.

15. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994. 50:282–290.

16. Park JW, Kim HC, Gyung MS, Shin DH, Choi JS, Kim KH, et al. A case of nevoid basal cell carcinoma syndrome. Korean J Dermatol. 2000. 38:1218–1224.

17. Tak WJ, Shin BJ, Kim MN, Ro BI. A case of nevoid basal cell carcinoma syndrome with multiple, symmetrically distributed basal cell carcinomas. Korean J Dermatol. 2002. 40:682–685.

18. Roh BH, Park SJ, Lee SY, Lee JS, Whang KU. A case of nevoid basal cell carcinoma syndrome with meningioma and sclerosing stromal tumor of the ovary. Korean J Dermatol. 2006. 44:1030–1033.

19. Hauck RM, Manders EK. Familial syndromes with skin tumor markers. Ann Plast Surg. 1994. 33:102–111.