Premium
Ichthyosis Associated with ARC Syndrome: ARC Syndrome is One of the Differential Diagnoses of Ichthyosis
Author(s) -
Choi HyeJin,
Lee MiWoo,
Choi JeeHo,
Moon KeeChan,
Koh JaiKyoung
Publication year - 2005
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2005.00135.x
Subject(s) - ichthyosis , lamellar ichthyosis , medicine , differential diagnosis , dermatology , pathology , endocrinology
The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. Novel identification of the mutation in VPS33B in this syndrome, which involves intracellular protein trafficking by regulation of vesicle‐to‐target sensory nerve action potential receptor (SNARE) family, might explain the consistent combination of membrane fusion defects. We can guess the defective lamellar body secretion mediated by the soluble N‐ethylmaleimide‐sensitive factor attachment protein receptor or SNARE protein pathway in the epidermis might result in the ichthyosiform phenotype. In the English‐language literature, half of the reported instances of this syndrome are associated with ichthyosis. We report an infant with ichthyosis in association with arthrogryposis, renal tubular dysfunction, and cholestasis syndrome, and review the literature. Our findings suggest that the differential diagnosis of ichthyosis during infancy should include this syndrome.