Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene
Article first published online: 6 AUG 2007
Volume 24, Issue 5, pages E79–E82, September/October 2007
How to Cite
Michailidis, E., Theos, A., Zlotogorski, A., Martinez-Mir, A. and Christiano, A. M. (2007), Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene. Pediatric Dermatology, 24: E79–E82. doi: 10.1111/j.1525-1470.2007.00448.x
- Issue published online: 6 AUG 2007
- Article first published online: 6 AUG 2007
Abstract: Atrichia with papular lesions is a rare form of complete, irreversible alopecia that is inherited in an autosomal recessive manner. Several studies have implicated mutations in the human hairless gene as the underlying cause of this disorder. We describe two novel heterozygous mutations in exons 3 and 8 of the hairless gene in a 2-year-old Caucasian boy with complete alopecia of his scalp. These novel mutations add to the growing literature of mutations in the hairless gene found in nonconsanguineous families and expands the allelic series of mutations in this gene.