Poland's syndrome and recessive X-linked ichthyosis in two brothers

Abstract

Poland's syndrome consists of unilateral congenital absence of the pectoralis major muscle with a variable degree of ipsilateral upper limb deformity. The aetiology of Poland's syndrome is unknown, although an inherited tendency to develop a compromised embryonic vascular supply in the affected areas has been suggested. The majority of reported cases are sporadic, and in only a few instances is there a familial incidence. We describe the occurrence of Poland's syndrome in two brothers who also had recessive X-linked ichthyosis. To the best of our knowledge this is the first report of such an association.