[Trichorhinophalangeal syndrome. Case report and biophysical study of hair shaft parameters].
In 1956 Klingmüller first described the trichorhinophalangeal syndrome (TRPS), which was named by Giedion ten years later. The syndrome includes a combination of typical hair, facial and bone abnormalities with variable expression allowing the further distinction of three subtypes. In a 37-year old patient with TRPS type I who reportedly had reduced hair growth length, clinically fine and brittle hair were found. Scanning electron microscopy revealed widely spaced cuticular scales. Quantitative measurement of the biomechanical properties of the hair showed a significant increase in the viscous parameter. This could be a result of decreased disulfide bridges and increased halogen bonds in the keratin matrix of the hair. In dermatological practice patients with TRPS often present because of hair abnormalities. Because of premature arthrosis due to skeletal abnormalities, occupational counseling is advised.Congenital heart problems, kidney abnormalities and endocrinological problems are rare, but should be sought in the symptomatic individual. Apart from mild hair care and avoidance of additional physical or chemical injuries due to hair cosmetic procedures,there is no treatment for the hair defects.
Schacht
V
V
Dermatologische Klinik, UniversitätsSpital Zürich.
Borelli
S
S
Tsambaos
D
D
Spycher
M A
MA
Trüeb
R M
RM
D000328:Adult; D001696:Biomechanical Phenomena; D003937:Diagnosis, Differential; D004548:Elasticity; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000502:physiology / Q000648:ultrastructure; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008855:Microscopy, Electron, Scanning; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography; D014783:Viscosity
Das Trichorhinophalangealsyndrom. Fallbeispiel mit untersuchung der biophysikalischen Haarschaftparameter.