A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

[A case of basal cell nevus syndrome].

A case of basal cell nevus syndrome is reported. The patient, a 25-year-old man, had no family history of this condition. The patient showed multiple mandibular cysts, calcification of the falx cerebri, bridging of the sella turcica, ocular hypertelorimsm, a broad nasal root, and pitting of the palms. These findings correlate with reports in the literature and permitted the diagnosis of basal c...

Basal cell nevus syndrome presenting as a tender mass of the jaw: A case report

Basal cell nevus syndrome. A case report.

An 11-year-old boy with multiple dentigerous cysts in the maxilla and mandible is described. Other findings seen in the face, plantar skin, skeletal system and oral cavity indicated the lesions to be due to the basal cell nevus syndrome. This was further confirmed by the presence of similar abnormalities in his father and brother.

A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report

INTRODUCTION Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental defects. The disorder results from mutations in the PTCH1 gene. CASE PRESENTATION A 15-year-old boy presented to our dental clinic with multiple jaw cysts. The patient had broad confluent eyebrows, a broa...

Meningeal calcification in basal cell nevus syndrome.

To cite: Nair PP, Khilari M, Peddawad D, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013200545 DESCRIPTION A 20-year-old woman presented with history of headache for 1 year. The headaches were mild to moderate in intensity, bilateral and non-throbbing, with no symptoms suggestive of raised intracranial pressure. The patient had hyperpigmented skin lesi...