Atrichia congenita universalis Q84.0

Rare, autosomal-dominant inherited, permanent, diffuse hairlessness (atrichia), often with missing nails.

For AUC (as for Atrichia congenita with horny cysts = Papular Atrichia), mutations in the so-called hairless gene (HR gene) located on chromosome 8p21-p22 are detected. So far 1>50 mutations have been detected. Another gene that is also involved in the hair cycle is the vitamin D receptor (VDR) gene, which is located on chromosome 12q12-q14.

scalp, eyebrows, eyelashes, nails

The hair falls out within the 1st year of life. Eyelashes, eyebrows and nails may also be missing. Papular lesions are conspicuous, which are typical for the clinical picture in addition to atrichia: These are located periorbital and in the knee region. Other anomalies are nail dystrophies, dental anomalies, skeletal anomalies and immunodeficiencies.

The infundibular parts of the hair follicles and sebaceous glands are normal, but hair shafts are missing. Instead, there are unstructured follicular horn masses.

Atrichia congenita with horny cysts; alopecia areata diffusa; syndromatic alopecia; ectodermal dysplasia;

The hairlessness is permanent.

Congenital atrichia with severe T-cell defect and nail dystrophy (MIM 601705) is an independent clinical picture with a mutation in the WHN gene on chromosome 17.

1. Ahmad W et al (1998) Alopecia universalis associated with a mutation in the hairless gene. Science 279: 720-724
2. Cichon S et al (1998) Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 7: 1671-1679
3. Betz RC (2014) Alopecia and hyoptrichosis in children. dermatologist 56: 520-526
4. Klein I et al (2002) A novel missence mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J Invest Dermatol 119: 920-922