Differential diagnosis Many features of<unk>  <unk>  and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, ), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder. Several delineating factors, however, suggest that<unk>  and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum. While the prevailing feature of wrinkly, loose skin is more localized with<unk> , it is usually systemic, yet eases in severity with age during the course of WSS. Also, as the fontanelles ("soft spots") are usually normal on the heads of infants with<unk> , they are often enlarged in WSS infants. While WSS is associated with mutations of genes on chromosomes 2, 5, 7, 11 and 14;<unk>  has been linked to mutations in the protein<unk> RAB. A serum sialotransferrin type 2 pattern, also observed with WSS, is not present in<unk>  patients. But perhaps the most notable feature, differentiating<unk>  from WSS and similar cutis laxa disorders, is the age-specific metaphyseal peg sometimes found in<unk> -affected long bone, near the knee. Not appearing until around age 4–5, then disappearing by physeal closure, this oddity of bone is thought to represent a specific genetic marker unique to<unk>  and its effects on bone development.
Gerodermia osteodysplastica
Osteoma cutis
Fibrodysplasia ossificans progressiva
Osteopathia striata
Osteitis fibrosa cystica
Myositis ossificans
Pycnodysostosis
Corneodermatoosseous syndrome