Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer.

Causes of Nevoid Basal Cell Carcinoma Syndrome

Mutations in the human homologue of Drosophila patched (PTCH1), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.

Symptoms of Nevoid Basal Cell Carcinoma Syndrome

  • Multiple basal-cell carcinomas of the skin

  • Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 years average).

  • Rib and vertebrae anomalies

  • Intracranial calcification

  • Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)

  • Distinct faces: frontal and temporoparietal bossing, hypertelorism, and mandibular prognathism

  • Bilateral ovarian fibromas

  • 10% develop cardiac fibromas

Diagnosis of Nevoid Basal Cell Carcinoma Syndrome

Diagnosis of NBCCS is made by having two major criteria or one major and two minor criteria.

The major criteria consist of the following

  • ore than 2 BCCs or 1 BCC in a person younger than 20 years;

  • Odontogenic keratocysts of the jaw

  • 3 or more palmar or plantar pits

  • Ectopic calcification or early (<20 years) calcification of the falx cerebri

  • Bifid, fused, or splayed ribs

  • First-degree relative with NBCCS.

The minor criteria include the following

  • Macrocephaly.

  • Congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, coloboma, microphthalmia, nystagmus).

  • Other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.

  • Radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.

  • Ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).

Treatment of Nevoid Basal Cell Carcinoma Syndrome

Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.[citation needed]

  • Enucleation of the odontogenic cysts can help, but new lesions, infections and jaw deformity are usually a result.

  • The severity of the basal-cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death.

  • Genetic counseling

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