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. Author manuscript; available in PMC: 2018 Jun 1.
Published in final edited form as: J Am Acad Dermatol. 2017 Jun;76(6):e197–e198. doi: 10.1016/j.jaad.2016.12.030

Facial papules as a marker of cancer predisposition syndrome

Sunil Bellur 1, Helena Jenkinson 1, Sandesh Nagamani 2
PMCID: PMC5485846  NIHMSID: NIHMS869960

History

An otherwise healthy 55-year-old woman presented with multiple small, dome-shaped, skin-colored papules on her face and neck (Figure A). Apart from being a cosmetic concern, these lesions, which began to appear at 30 years of age, were asymptomatic. Histopathologic examination revealed them to be fibrofolliculomas. Family history was remarkable for spontaneous pneumothoraces in the patient’s father and paternal cousin. CT scan of the patient’s chest identified multiple cystic lesions in the lung (Figure B).

Figure A.

Figure A

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Multiple small, dome-shaped, skin-colored papules on patient’s face and neck

Figure B.

Figure B

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CT image shows multiple cystic lesions in patient’s lung

List of Abbreviations and Acronyms

BHDS

Birt-Hogg-Dubé syndrome

PTEN

phosphatase and tensin homolog

mTOR

mammalian target of rapamycin

Footnotes

Conflicts of Interest: None declared

Disclosures:

Sandesh Nagamani was supported by the Doris Duke Charitable Foundation, Grant #2013095. This work was also supported by the Clinical Translational Core of Baylor College of Medicine IDDRC (1 U54 HD083092) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Eunice Kennedy Shriver National Institute of Child Health and Human Development or the National Institutes of Health.

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References

  • 1.Chernoff KA, Schaffer JV. Cutaneous and ocular manifestations of neurocutaneous syndromes. Clin Dermatol. 2016;34(2):183–204. doi: 10.1016/j.clindermatol.2015.11.003. [DOI] [PubMed] [Google Scholar]
  • 2.Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet. 2005;42(11):811–9. doi: 10.1136/jmg.2004.025577. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 3.Gammon A, Jasperson K, Champine M. Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2016;9:83–92. doi: 10.2147/TACG.S41947. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 4.Menko FH, Van steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199–206. doi: 10.1016/S1470-2045(09)70188-3. [DOI] [PubMed] [Google Scholar]
  • 5.Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135(10):1195–202. doi: 10.1001/archderm.135.10.1195. [DOI] [PubMed] [Google Scholar]

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