Accurate diagnosis of<unk>  generally requires specialized dermatological assessment. In addition to assessment of clinical physical symptoms, diagnosis may be aided by: * x-rays to identify joint abnormalities * ophthalmologic evaluation of hypertelorism, downslanting eyes, and myopia * brain MRI scans to evaluate the degree of microcephaly * genetic screening for Congenital Disorders of Glycosylation (CDG) *<unk>  biopsy and histological analysis * genetic screening for mutations in the ATP6VOA2 gene The pigmentation patterns observed in<unk>  biopsies reveal a characteristic lack of elastic fibers in the papillary dermis and clumping of elastic fibers in the reticular dermis. Despite assessment of each of these diagnostic factors, a definitive diagnosis differentiating<unk>  from cutis laxa requires genetic testing. Differential diagnosis Several symptoms are shared with cutis laxa type II (CLT2) including<unk> ng of<unk> , microcephaly, and developmental delay which has made proper diagnosis difficult in several cases. However, the severity of<unk>  abnormalities and facial dysmorphia is greater in cutis laxa type II.
Wrinkly skin syndrome
Peeling skin syndrome
Gradenigo's syndrome
Swimmer's itch
Heat urticaria
Pressure urticaria
Intertrigo
Sunburn