Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.

A distinctive variant of pernio. Clinical and histopathologic study of nine cases.

We describe here nine women who had similar distinctive clinical features that consisted of painful red-to-purple macules, papules, and plaques on the digits, predominantly on the toes. All patients reported that exposure to cold had preceded their symptoms. Histologic study demonstrated a lymphocytic vasculitis, characterized by lymphocytes infiltrating the walls of blood vessels in eight (88%) of nine lesions. This pattern of inflammation is different from the perivascular lymphocytic infiltrate that is common to lupus erythematosus, erythema multiforme, lymphocytic infiltration of the skin (Jessner), and drug eruptions. It also serves to distinguish the disorder from other clinical conditions resembling it, such as cellulitis, herpes simplex infection, and disseminated gonococcemia. To the best of our knowledge, this lymphocytic vasculitis has not been previously described as occurring in pernio. We believe the unique disorder that we are reporting is a common, but infrequently recognized, variant of pernio.