title: Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.
abstract: 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.
authors.affiliation: Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Korea.
authors.forename: Hye-Jin
authors.initials: HJ
authors.lastname: Choi
authors.forename: Mi-Woo
authors.initials: MW
authors.lastname: Lee
authors.forename: Jee-Ho
authors.initials: JH
authors.lastname: Choi
authors.forename: Kee-Chan
authors.initials: KC
authors.lastname: Moon
authors.forename: Jai-Kyoung
authors.initials: JK
authors.lastname: Koh
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000287:Administration, Topical; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics; D001707:Biopsy, Needle; D002779:Cholestasis / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D007150:Immunohistochemistry; D007223:Infant; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D007684:Kidney Tubules / Q000503:physiopathology*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013256:Steroids / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D013256:Steroids