Cowden's disease associated with immunodeficiency

Cowden's syndrome with immunodeficiency

“…Immunodeficiency has been reported previously in a single patient with Cowden’s syndrome [7], who presented with recurrent cellulitis and abscesses, and reduced T cell numbers and in vitro T cell proliferative function. This patient had normal levels of serum immunoglobulins.…”

“…In addition, mice with a B cell-specific mutation in PTEN were shown to have reduced levels of IgG and IgA, impaired specific antibody production, and defective immunoglobulin class switch recombination (CSR) [6]. To date, however, there have been no reports of antibody deficiency in patients with Cowden’s syndrome, and T cell deficiency has been reported in a single patient only [7].…”

Cowden’s syndrome: a clinical, immunological, and histopathological study

“…These patients and their parents revealed not only decreased total T-cell percentages and inverted helper : suppressor ratios but also decreased total B-cell percentages. There have been few reports 1,[22][23][24][25] about the association between CS and decreased T-lymphocyte function. To our knowledge, only one report 26 has discussed the association between CS and abnormalities in both the humoral and cellular immune compartments in the peripheral blood (Table 3).…”

Sclerotic lipoma: lipomas simulating sclerotic fibroma

“…Yet, this does not absolutely rule out a possible link to this entity. As lipomas are also not infrequently associated with this syndrome 9,[11][12][13][14][15] , sclerotic lipomas might be too. Similar to sclerotic fibromas which, more frequently than not, occur as sporadic cases (80-90%) 2,4 , our series of five sclerotic lipomas could be too small to detect such a loose association.…”