The trichorhinophalangeal syndrome. Case report and biophysical analysis of the hair shaft parameters

In 1956 Klingmuller first described the trichorhinophalangeal syndrome (TRP S), which was named by Giedion ten years later. The syndrome includes a com bination of typical hair, facial and bone abnormalities with variable expre ssion allowing the further distinction of three subtypes. In a 37-year old patient with TRPS type I who reportedly had reduced hair growth length, cli nically fine and brittle hair were found. Scanning electron microscopy reve aled widely spaced cuticular scales. Quantitative measurement of the biomec hanical properties of the hair showed a significant increase in the viscous parameter. This could be a result of decreased disulfide bridges and incre ased halogen bonds in the keratin matrix of the hair. In dermatological pra ctice patients with TRPS often present because of hair abnormalities. Becau se of premature arthrosis due to skeletal abnormalities, occupational couns eling is advised. Congenital heart problems, kidney abnormalities and endoc rinological problems are rare, but should be sought in the symptomatic indi vidual. Apart from mild hair care and avoidance of additional physical or c hemical injuries due to hair cosmetic procedures, there is no treatment for the hair defects.