CEDNIK syndrome

Presentation

CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis.

Pathophysiology

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.

References

References

1. "Orphanet: CEDNIK syndrome".
2. Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
3. "Kegg Disease: CEDNIK syndrome".
4. (March 2011). "CEDNIK syndrome results from loss-of-function mutations in SNAP29". The British Journal of Dermatology.
5. (August 2005). "A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma". American Journal of Human Genetics.