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March 2010

Multiple Facial Papules and Macrocephaly—Diagnosis

Author Affiliations


Arch Dermatol. 2010;146(3):337-342. doi:10.1001/archdermatol.2010.8-b

Medium-power microscopy of the shave biopsy specimen demonstrated a circumscribed, lobular growth of clear keratinocytes that resembled the outer root sheath of the hair follicle. There was a thin rim of peripheral, palisading basal cells bound by a thickened eosinophilic basement membrane (Figure 3). These findings were consistent with trichilemomma.

First described in 1963, CS is a multiorgan, autosomal dominant, cancer predisposition syndrome that is estimated to affect approximately 1 in 200 000 individuals.1,2 Most cases are due to germline mutations in the PTEN tumor suppressor gene OMIM(#158350). PTEN mutations also are seen in Bannayan-Riley-Ruvalcalba syndrome and in an overgrowth syndrome with features similar to Proteus syndrome. These distinct syndromes are collectively termed PTEN hamartoma tumor syndrome.3PTEN regulates the cell cycle, migration, and apoptosis and therefore affects proliferating tissues such as epidermis, oral and gastrointestinal mucosa, thyroid, and breast.4 The International Cowden Syndrome Consortium updated the standardized operational diagnostic criteria in 2000.5

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