TY - JOUR
T1 - Dorfman-Chanarin syndrome
T2 - A case report and a review
AU - Srebrnik, Avigdor
AU - Tur, Ethel
AU - Perluk, Chaim
AU - Elman, Monica
AU - Messer, Glenda
AU - Ilie, Bianca
AU - Krakowski, Anatol
PY - 1987
Y1 - 1987
N2 - Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.
AB - Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.
UR - http://www.scopus.com/inward/record.url?scp=0023616073&partnerID=8YFLogxK
U2 - 10.1016/S0190-9622(87)70266-7
DO - 10.1016/S0190-9622(87)70266-7
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AN - SCOPUS:0023616073
VL - 17
SP - 801
EP - 808
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
SN - 0190-9622
IS - 5
ER -