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March 2010

Generalized Lentiginosis, Short Stature, and Multiple Cutaneous Nodules—Diagnosis

Author Affiliations
 

MARY S.STONEMDSOONBAHRAMIMDCARRIE ANN R.CUSACKMDSENAIT W.DYSONMDMOLLY A.HINSHAWMDVINCENTLIUMD

Arch Dermatol. 2010;146(3):337-342. doi:10.1001/archdermatol.2010.7-b

Histopathologic examination revealed sheets of large cells extending deeply within the dermis and abutting adnexal structures. These cells contained abundant granular eosinophilic cytoplasm, with centrally placed bland nuclei. They stained strongly positive for S-100 protein. The findings were classic of GCTs. Genetic analysis revealed a heterozygous missense mutation of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene OMIM (*176876), confirming the diagnosis of LS. Echocardiography demonstrated mild, midseptal hypertrophy without any valvular abnormalities.

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