This condition is associated with a loss-of-function mutation in SNAP29 gene, encoding a member of the SNARE family of proteins which is involved in intracellular vesicle fusion. Decrease in SNAP29 expression was found to result in abnormal lamellar granule maturation and secretion. Lamellar granules are organelles found in the upper epidermal layers of skin and is responsible for secretion of lipids, proteases and their inhibitors to stratum corneum during the formation of epidermal barrier. Due to the abnormal vesicle trafficking as a consequence of decreased SNAP29 there is abnormal deposition of epidermal lipids and proteases. The abnormal gene of CEDNIK disease was mapped on chromosome 22 by Sprecher E et al.
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Odonto–tricho–ungual–digital–palmar syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome
Smith Martin Dodd syndrome
Serpentine fibula-polycystic kidney syndrome
Craniosynostosis–anal anomalies–porokeratosis syndrome
Ardalan–Shoja–Kiuru syndrome
Platyspondylic lethal skeletal dysplasia, Torrance type