The Connective Tissue Nevus-Osteopoikilosis Syndrome

Abstract

This study is concerned with the clinical manifestations and histopathologic findings in six cases of osteopoikilosis from two, possibly related, families. Only three of the six individuals involved had skin lesions. These could be considered as falling within the defined, but nonspecific, spectrum of connective tissue nevi. Three individuals from two families gave a history or were found to show manifestations of an earlier-thannormal onset of puberty which is thought to be the cause of the shortness of stature of two of the adults with this symptom. The combination of osteopoikilosis, connective tissue nevi, and "precocious" puberty is considered a syndrome which was found to be dominantly inherited in both families.