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May 2005

Nail Dystrophy Associated With a Heterozygous Mutation of the Nude/SCID Human FOXN1 (WHN) Gene

Arch Dermatol. 2005;141(5):647-648. doi:10.1001/archderm.141.5.647

Ectodermal defects (such as alopecia and nail dystrophy) and thymic aplasia are the main features of the spontaneous immunodeficient mouse strain referred as Nude/SCID. The human equivalent of the Nude/SCID phenotype has been recently described in 2 children affected with a predominant T-cell defect associated with congenital alopecia and nail dystrophy.1 In humans, as already reported in mice, the disease is due to a molecular alteration of the transcription factor FOXN1 (previously WHN),2 which is selectively expressed in thymic and cutaneous epithelia. In 1999, a screening search for this FOXN1 mutation was undertaken in the community where the probands originated as part of a program to provide genetic counseling and prenatal diagnosis support. This program led to the identification of 55 subjects who carried the heterozygous FOXN1 mutation,3 all belonging to the same extended pedigree as the 2 siblings described by Pignata et al.1

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