CCS, first described by Cronkhite and Canada in 1955[1
], is a rare, acquired, nonfamilial syndrome with diffuse GI polyposis, atrophic nail change, alopecia, and cutaneous hyperpigmentation. Its etiology is apparently associated with the ectoderm abnormality[2,3
Therapeutic options comprise nutrition support, steroid therapy[4-6
], antiplasmin therapy[4,7
] and surgery[9
]. Numerous cases for which corticosteroid treatment was effective have been reported, but corticosteroid therapy is regarded as a first-line therapy. In this case, although an insufficient effect of salazosulfapyridine and antiplasmin agents was observed, steroid therapy was also found to have dramatic effects.
The etiology of CCS remains unknown. Infection, mental stress, concomitant neoplasm, and immune abnormalities are regarded as triggering factors for CCS[3,10
]. In addition, MDS has a high incidence (10%-20%) accompanying autoimmune diseases, such as systemic lupus erythematosus and aortitis[11-13
]. It is particularly interesting that GI autoimmune diseases, such as inflammatory bowel disease (IBD) and Behcet’s disease, are also reported in patients with MDS. The etiology is considered to be an imbalance of various cytokines attributable to the abnormal level of multipotent stem cells. Reportedly, up-regulation of cytokines, such as TGF-β, TGF-β receptor, IL-6, and IL-7 receptors mapped to chromosome 8, related to inflammation and cell proliferation, plays an important role in the pathogenesis of patients having Behcet’s disease with MDS and trisomy[14-16
This case was consistent with CCS, considering its typical clinical manifestations and histology. We infer the possibility that cytokine abnormalities induced by earlier MDS may have caused CCS in this case. However, the karyotype was not trisomy 8, 46, XX, or i(7) (q10). Moreover, inflammatory cytokine levels (IFNγ, IL-6, IL-10, TNF-α) were within normal limits. These results suggest that the etiology of this case is not associated with cytokine imbalance, as reported for Behcet’s disease with MDS of trisomy 8.
In conclusion, we report a case of CCS in a patient with MDS. Although the association of CCS and MDS in this case remains uncertain, clarification of the CCS etiology is possible through accumulation of similar cases and results of further studies of the pathogenesis of MDS associated with autoimmune disease.