Management

Those with NBCCS should be monitored for the development of NBCCS-related complications and should receive treatment for postnatal tumors and odontogenic keratocysts. Individuals with NBCCS should be seen by a dermatologist every 2 to 3 months, especially during adolescence. Cranial magnetic resonance imaging should be performed annually until the age of 8 years in those with NBCCS to exclude medulloblastoma, and annual panoramic radiographs of the jaw are recommended beginning at age 8 years. Patients should also undergo periodic echocardiography to exclude cardiac fibroma.

For infants with a family history of NBCCS, early diagnosis may be achieved by means of screening radiography to look for calcification of the falx cerebri, rib anomalies, or calcified ovarian fibromas.


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Treatment of BCC. Treatment of BCC is difficult in those with NBCCS because of the number of lesions. Lesions that are growing or that become invasive should undergo excision or curettage and electrodessication. More aggressive tumors or those in delicate or high-risk areas benefit from Mohs micrographic surgery.

Sneddon-Wilkinson syndrome. Flaccid pustules that coalesce into annular, polycyclic, or serpiginous configurations are typical of subcorneal pustular dermatosis or Sneddon-Wilkinson disease. Intertriginous areas, skin flexures, and the abdomen are preferred sites of involvement.

Cowden syndrome. In Cowden syndrome, mutations in the phosphatase and tensin homolog (PTEN) gene cause hamartomatous tumors in multiple organ systems, both mucocutaneous and extracutaneous, resulting in an increased risk for malignancy. Malignancy has been reported in most organ systems in those with Cowden syndrome, however, the most common site is the breast. Patients also exhibit a higher risk for thyroid, endometrial, colorectal, and renal cancers. Those with Cowden syndrome present with oral papules and papillomas (coalesced papules) on the lips, buccal mucous membranes, or palate. Lesions are pink or white and smooth and are 1 to 4 mm in diameter. When they coalesce, they may form a distinctive cobblestone appearance.

Muir-Torre syndrome. Muir-Torre syndrome is a type of Lynch syndrome, which is the most common of the inherited colon cancer susceptibility syndromes. Sebaceous tumors, cutaneous keratoacanthomas, and visceral carcinomas are associated with this syndrome. Muir-Torre syndrome arises from a mutation in the mismatch repair (MMR) gene, which increases the risk for extracolonic cancers (brain, sebaceous tumors, skin acanthomas, and visceral carcinomas) in some individuals with Lynch syndrome.

Naveen Pattisapu, BA, is pursuing an MD at the Baylor College of Medicine, in Houston, TX, and Adam Rees, MD, practices dermatology in Los Angeles, CA.

References

  1. Barankin B, Goldenberg G. Nevoid basal cell carcinoma syndrome. UpToDate. http://www.uptodate.com/contents/nevoid-basal-cell-carcinoma-syndrome. Updated January 21, 2015. Accessed March 29, 2016.
  2. Grover S. Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis. UpToDate. http://www.uptodate.com/contents/clinical-features-and-diagnosis-of-lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer. Updated January 19, 2016. Accessed March 29, 2016.
  3. Stanich PP, Lindor NM, Patnaik MM. PTEN hamartoma tumor syndrome, including Cowden syndrome. UpToDate. http://www.uptodate.com/contents/pten-hamartoma-tumor-syndrome-including-cowden-syndrome. Updated October 28, 2015. Accessed March 29, 2016.
  4. Wolff K, Johnson RA, Saavedra AP. Fitzpatrick’s Color Atlas and Synopsis of Clinical Dermatology. 7th ed. New York, NY: McGraw-Hill Professional Publishing; 2013.