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

Affiliations
  • 1Department of Dermatology, Myongji Hospital, Kwandong University College of Medicine, Goyang, Korea. dermy@kd.ac.kr
  • 2Department of Pathology, Myongji Hospital, Kwandong University College of Medicine, Goyang, Korea.

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).


Cited by  1 articles

Retraction: Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma
Dongsik Bang
Ann Dermatol. 2012;24(2):242-242.    doi: 10.5021/ad.2012.24.2.242.


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