[MIM 191 480, 617 251, 617 252]

(Pili trianguli and cornaliculi)

Prevalence < 1/106. Autosomal recessive transmission of a mutation of gene PADI3 (1p36.13); genes TCHH and TGM3 may also be involved. Dysplasia of the scalp that usually begins between 3 months and 12 years of age. The scalp hair progressively gets blond, or silvery or straw colored, dry, frizzy and wiry.  It has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to be flattened with a comb. Microscopic analysis shows a longitudinal gutter on the hair shaft with a triangular or kidney-shaped section. The anomaly is detected clinically when at least 50% of the scalp hair is involved. The situation tends to improve with age, at adolescence.

Other anomalies may be associated with this disease: ectodermal or retinal dysplasia, pigmentary dystrophy of the retina, juvenile cataract, finger anomalies, dental anomalies (enamel, oligodontia),  phalango-epiphyseal dysplasia, spotty alopecia, atopic eczema and ichthyosis.

Anesthetic implications:

according to the associated anomalies; fragile teeth and skin

References:        

Updated: March 2017