Management Protocol

On May 2 – 3, 2005, the BCCNS Alliance, formerly the BCCNS Life Support Network, in conjunction with the Saint Louis University Department of Dermatology and the Saint Louis University Cancer Center, convened the first-ever BCCNS Colloquium, comprised of affected patients, their families, and medical, dental, and research experts from around the country and internationally. The foremost goal of the colloquium was to review and revise the prior diagnostic criteria and define the surveillance of recommendations for affected pediatric and adult patients to allow for early intervention.

Diagnostic Protocol for Evaluation of Patients with Suspected BCCNS

Medical history to include:

  • Birth history to include: macrocephaly, hydrocephalus, undecended testes, hernia
  • Developmental history to include: achievement of developmental milestones, school performance, height and weight as compared to siblings
  • Medical/surgical history to include: history/treatment of brain tumor, history/treatment of strabismus, oral cleft repair, dental extractions or oral surgery, surgical treatment of skin lesions, cardiac problems, infertility, fractures
  • Social history to include: environmental exposure, including radiation therapy, ultraviolet exposure

Examination by a medical/clinical geneticist to include:

  • Facial dysmorphology including: macrocephaly, biparietal/frontal bossing, broad nasal root, mandibular prognathism, facial asymmetry, oral clefting, dental malocclusion, hypertelorism, synophrys, coloboma, epicanthal folds
  • Skeletal exam for pectus anomalies, Sprengel deformity, scoliosis
  • Skin exam for pits of soles (especially the arch), palms, webspaces between fingers, inginal hernia
  • Radiologic exam to include: Panorex of jaw (digital if possible), MRI of brain
  • Additional studies warranted (digital if possible): PA and lateral skull for ectopic calcification, CXR for evaluation of bifid ribs, full PA and lateral spine for scoliosis and vertebral anomalies, long bones for bone cysts, hand film for flame-shaped (Dunnick’s) lucencies of phalanges
  • Dermatologic exam to include: full skin exam to assess for: palmarplantar pits, basal cell carcinomas (which can be atypical in presentation), milia-like papules in the periorbital and perinasal area, radiation port site if prior radiation, demoid cysts especially at the web space of the 1st and 2nd fingers
  • Dental exam to include: digital panorex of jaw, if no previously done, sinus films if symptomatic
  • Cardiology exam to include: cardiac ultrasound
  • Gynecology exam to include: pelvic ultrasound

Management Protocol for Surveillance of Pediatric Patients with BCCNS

  • Baseline MRI of brain with contrast and epilepsy protocol
    Repeat yearly until 8 years old, then discontinue
    Repeat sooner if symptomatic
  • Baseline cardiac ultrasound
    Repeat if symptomatic
  • Baseline dermatologic examination
    Repeat yearly until first BCC
    After first BCC, repeat every 6 months, or more frequently as needed.
  • Baseline digital panorex of jaw (as soon as tolerated)
    Repeat yearly until first jaw cysts
    After first jaw cyst, repeat every 6 months until no jaw cysts for 2 years or until age 21
    Repeat more regularly if needed for symptom or occurrence
  • Baseline spine film at age 1 or at time of diagnosis (digital if possible)
    Repeat if symptomatic
    If abnormal, repeat scoliosis protocol every 6 months.
  • Pelvis ultrasound in girls at menarche or age 18
    Sooner if symptomatic
    Repeat if abnormal or symptoms develop
  • Routine developmental screening with well-child visits
    If fails screening or if not meeting milestones, further developmental assessment and testing is warranted.
    If school age with difficulty learning in school, cognitive evaluation and testing is warranted.
  • Annual vision, hearing and speech screenings
    Continue through school age
  • Baseline ophthalmology evaluation
    Repeat if symptomatic
  • Initial psychological evaluation
    To establish a relationship for support and counseling
    Follow-up would be based on individual recommendations from the initial evaluation
  • Baseline medical/clinical genetics evaluation
    Repeat annually to ensure multidisciplinary care and recommendations are being followed
  • Molecular diagnosis
    If necessary to confirm diagnosis
  • Minimize ionizing radiation exposure and maximize protection
    Radiographs warranted for evaluation of valid medical problems
    Utilize non-ionizing /digital imaging modalities, if possible

Management Protocol for Surveillance of Adult Patients with BCCNS

  • Baseline MRI of brain with contrast and epilepsy protocol if not done previously
    For comparison if symptoms develop in the future
    Repeated as need for symptoms
  • Full skin examination by dermatologist every 4 months
    More often if new skin lesions present at each exam
  • Digital panorex of jaw annually
    Repeat as needed for symptoms
  • Medical/clinical genetics evaluation annually
    Molecular diagnosis if indicated
  • Genetic counseling at baseline
    Preconception/prenatal counseling for couples at risk
  • Psychological evaluation as needed for support and counseling
    Repeat as individually needed
  • Neurology evaluation annually if prior medulloblastoma
    Repeat as needed for symptoms
  • Obstetrics-gynecology evaluation annually for female patients
    Repeat as needed for symptoms
    Pelvic ultrasound at baseline and if symptomatic
    Preconception/prenatal counseling for couples at risk
    Maternal fetal medicine evaluation for at-risk pregnancies
    Assessment of fetus for cardiac fibromas, hydrocephalus and macrocephaly
  • Nutritional assessment to include Vitamin A, B, C and D levels on an annual basis
  • Minimize ionizing radiation exposure and maximize protection
    Radiographs appropriate for valid medical problems
    Utilize non-ionizing/digital imaging modalities if possible
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