In a small proportion of cases, basal-cell carcinoma also develops as a result of basal-cell nevus syndrome, or Gorlin Syndrome, which is also characterized by keratocystic odontogenic tumors of the jaw, palmar or plantar (sole of the foot) pits, calcification of the falx cerebri (in the center line of the brain) and rib abnormalities. The cause of this syndrome is a mutation in the PTCH1 tumor suppressor gene located in chromosome 9q22.3, which inhibits the hedgehog signaling pathway. A mutation in the SMO gene, which is also on the hedgehog pathway, also causes basal-cell carcinoma. Diagnosis
To diagnose basal-cell carcinomas, a skin biopsy is performed for histopathologic analyses. The most common method is a shave biopsy under local anesthesia. Most nodular basal-cell cancers can be diagnosed clinically; however, other variants can be very difficult to distinguish from benign lesions such as intradermal naevus, sebaceomas, fibrous papules, early acne scars, and hypertrophic scarring. Exfoliative cytology methods have high sensitivity and specificity for confirming the diagnosis of basal cell carcinoma when clinical suspicion is high but unclear usefulness otherwise. Characteristics
Basal-cell carcinoma cells appear similar to epidermal basal cells, and are usually well differentiated.In uncertain cases, immunohistochemistry using BerEP4 can be used, having a high sensitivity and specificity in detecting only BCC cells. Main classes
Basal-cell carcinoma can broadly be divided into three groups, based on the growth patterns. Superficial basal-cell carcinoma, formerly referred to in-situ basal-cell carcinoma, is characterized by a superficial proliferation of neoplastic basal-cells.
Cause
Maffucci syndrome is most commonly caused by mutations in the IDH1 or IDH2 gene. Diagnosis
Differential diagnosis
In Ollier disease isolated enchondromas are present without the presence of hemangiomas. Management
Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities. See also
Ollier disease
Njolstad syndrome
List of cutaneous conditions
List of radiographic findings associated with cutaneous conditions

References
External links
Malfucci syndrome at Genetics Home Reference
Gupta N, Kabra M (February 2007). "Maffucci syndrome" (PDF). Indian Pediatr. 44 (2): 149–50. PMID 17351310.