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A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration
Author(s) -
DYKES P.J.,
MARKS R.,
HARPER P.S.
Publication year - 1979
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1979.tb05585.x
Subject(s) - hepatosplenomegaly , ichthyosis , congenital ichthyosis , medicine , abnormality , degeneration (medical) , dermatology , pathology , disease , psychiatry
SUMMARY Two brothers are described with ichthyosis, hepatosplenomegaly and signs of cerebellar degeneration. The ichthyosis was similar to autosomal dominant ichthyosis both clinically and biochemically. No metabolic abnormality has yet been identified to account for this previously undescribed triad of abnormalities.