A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content.

Hair from a four year old white girl with a history of brittle hair since birth did not show any previously reported defect with light microscopy. Examination with polarized light revealed regular alternating areas of birefringence and non-birefringence, suggesting a patterned abnormality of hair keratiniziation. Fractures occurred only in the non-birefringent zones. Examination of hairs from each member of the patient's family, and from normal children of the same age, did not show this pattern. Scanning electron micrographs of the defective hair shaft and fracture sites were compared with normal hair and artificially fractured hair and revealed a marked anatomic defect of the cuticle and of the fracture sites. Stress strain curve analysis of the defective hair showed a very low elongation prior to breakage, usually less than 10%. Friction coefficients between crossed hair pairs were lower than normal and correlated with the defective cuticle formation. Electron-probe x-ray microanalysis of the defective hair shaft revealed a marked deficiency of sulfur, the periodicity of which differs from that found in the normal hair. Total sulfur content of the defective hair shafts was markedly decreased. Copper content of the hair shaft was greater than the normal control. However, the copper content of the root and the root/hair shaft ratio were less than normal. Complete amino acid analysis of the patient's hair demonstrates a major decrease in the amount of cystine-cysteine. Urine amino acid analysis detected two peaks not present in normal urine. Preliminary evidence indicates that the unidentified peaks represent peptides of complex composition. Argininosuccinic acid, reported in association with trichorrhexis nodosa, was not found.

[1]  F.I.C. A. T. King B.Sc..  SULPHUR IN WOOL , 1934 .

[2]  R. J. Block,et al.  THE COMPOSITION OF KERATINS THE AMINO ACID COMPOSITION OF HAIR, WOOL, HORN, AND OTHER EUKERATINS , 1939 .

[3]  W. Astbury,et al.  A CASE OF PILI TORTL , 1940 .

[4]  W. Geiger.  The Scale Substance of Wool , 1944 .

[5]  E. H. Mercer.  Some experiments on the orientation and hardening of keratin in the hair follicle , 1949 .

[6]  H. Eyring,et al.  Mechanical Properties and the Structure of Hair , 1950 .

[7]  J. Gillespie,et al.  Biochemical Studies of the Wool Root , 1950, Nature.

[8]  E. H. Mercer.  The Heterogeneity of the Keratin Fibers , 1953 .

[9]  M. Horio,et al.  Crimping of Wool Fibers , 1953 .

[10]  G. Odland.  Some microscopic studies of the keratinization of human hair. , 1953, The Journal of investigative dermatology.

[11]  R. Fraser,et al.  The Bilateral Structure of Wool Cortex and Its Relation to Crimp , 1955 .

[12]  C. Dent,et al.  A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. , 1958, Lancet.

[13]  R. Westall.  Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies. , 1960, The Biochemical journal.

[14]  B. Levin,et al.  Argininosuccinic Aciduria , 1961, Archives of disease in childhood.

[15]  M. Alter,et al.  A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. , 1962, Pediatrics.

[16]  A. Gatz,et al.  A familial study of a human enzyme defect, argininosuccinic aciduria. , 1964, Biochemical and biophysical research communications.

[17]  ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. , 1964 .

[18]  W. Shelly,et al.  Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria. , 1965, Lancet.

[19]  M. E. Chernosky,et al.  Trichorrhexis nodosa. Clinical and investigative studies. , 1966, Archives of dermatology.

[20]  P. Reis,et al.  The dietary-regulated biosynthesis of high-sulphur wool proteins. , 1966, The Biochemical journal.

[21]  FORENSIC APPLICATIONS OF NEUTRON ACTIVATION ANALYSIS. , 1967 .

[22]  J. Knox,et al.  Trichorrhexis Nodosa—An Error of Amino Acid Metabolism? , 1967 .

[23]  R. Pollitt,et al.  Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. , 1968, Archives of disease in childhood.

[24]  V. Price,et al.  Pili annulati. Optical and electron microscopic studies. , 1968, Archives of dermatology.

[25]  A further study on the dietary-regulated biosynthesis of high-sulphur wool proteins. , 1969, The Biochemical journal.

[26]  R. Winkelmann,et al.  Generalized hair-follicle hamartoma, associated with alopecia, aminoacidura, and myasthenia gravis. , 1969, Archives of dermatology.

[27]  R. B. Belser,et al.  Instrument for Measuring Small Frictional Forces , 1969 .