Pseudo-achondroplastic variant of multiple epiphyseal dysplasia with cataract and vitiligo

Multiple epiphyseal dysplasias may present as congenital or late-onset (tarda) forms or as the variant pseudo-achondroplastic type. While the association between cataract and skin anomalies is well known in the congenital type, it has not been reported for the late-onset type of multiple epiphyseal dysplasia. A 5 1/2-year-old child with the pseudo-achondroplastic variant of multiple epiphyseal dysplasia has been observed to have the unusual association of cataracts and vitiligo, a condition which lacked previous documentation.