Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the epidermis or epidermal appendages
Disorders of hair
ED70 Alopecia or hair loss
H01158 Alopecia universalis
Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N
Title
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM
Title
Alopecia universalis associated with a mutation in the human hairless gene.
Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM
Title
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.