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Trichothiodystrophy Without Retardation: One Patient Exhibiting Transient Combined Immunodeficiency Syndrome
Author(s) -
Baden Howard P.,
Katz Aubrey
Publication year - 1988
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.1525-1470.1988.tb00899.x
Subject(s) - ichthyosis , medicine , short stature , pediatrics , immunodeficiency , dermatology , immunology , immune system
Two patients had trichothiodystrophy but did not exhibit the commonly associated findings such as mental retardation, increased sensitivity to sunlight, ichthyosis, decreased fertility in males, and short stature. One of the patients had a transient combined immunodeficiency syndrome in early childhood lasting four years, but has remained in good health untreated for four years. The association of these two rare findings in this patient should alert us to the possibility that others with trichothiodystrophy may exhibit immunodeficiency.