Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.
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.
Choi
Hye-Jin
HJ
Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Korea.
Lee
Mi-Woo
MW
Choi
Jee-Ho
JH
Moon
Kee-Chan
KC
Koh
Jai-Kyoung
JK
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
D013256:Steroids