P8.98 Nevoid Basal Cell Carcinoma Syndrome with Multiple Hair Shaft Defects

Lurie R*, Michael D, M, Hodak E.

*Pediatric Dermatology Hair Clinic, Schneider Children's Medical Center of Israel, Beilinson Campus of the Sackler School of Medicine, Tel Aviv University, Petah Tivka, Israel. Department of Dermatology, Rabin Medical Center, Beilinson Campus of the Sackler School of Medicine, Tel Aviv University, Petah Tivka, Israel

More than 300 cases of nevoid basal cell carcinoma syndrome (NBCCS) have been published, all indicating five major stigmatizing features: multiple basal cell carcinomas (BCC), jaw cysts, skeletal anomalies, ectopic calcification, and pitting of hand and feet.

Other associated anomalies that may be present are: ophthalmic, of the reproductive system, or of the central nervous system and gastrointestinal system.

Genetic studies of patients with NBCCS have led to the recognition of the importance of the hedgehog (HH) signalling pathway, including the transmembrane protein PTC1 in the development of BCC of the skin. Mutations in the PTC1 cause NBCCS. Despite the known role of the HH signalling pathway in hair follicle development, hair anomalies have not been described yet in NBCCS.

We present a unique case of NBCCS manifesting all 5 major stigmatizing features with addition of epilepsy and meningioma associated with multiple hair shaft defects  of the scalp, eye brows and body hair as follows: circular hair, pili torti ,pili biforcati, pili multibiforcati, pili gemini  pili multigemini and trichorrhexis nodosa.

The multiple hair shaft defects and the finding of keratotic type of BCC in many biopsies performed in our patients (i.e. presence of hair cysts which represent attempts of hair follicle formation) are of special interest in view of the prevailing hypothesis that BCC arises from hair follicles rather than the interfollicular epidermis.