trichorrhexis

Examination of the hair shafts with a microscope may reveal changes of trichorrhexis nodosa.

Wilks also firstly described trichorrhexis nodosa (the formation of nodes along the hair shaft), in 1852.

Patients with this disorder tend to have a hair shaft defect (trichorrhexis invaginata), also known as "bamboo hair".

Other side effects in children include sparse hair growth and frontal recession, and pili torti and trichorrhexis nodosa are also sometimes present.

As in previous descriptions of amino acid abnormalities in the trichorrhexis nodosa of arginosuccinicaciduria, there were increases in lysine, aspartic acid, alanine, leucine, isoleucine, and tyrosine.

Microscopic analysis of the hair shows twisted hairs of unequal size and different shapes (pili torti, aniso- and poikilotrichosis), longitudinal breaks and breaks located at nodes (trichorrhexis nodosa).

In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, argininosuccinic lyase deficiency or trichothiodystrophy.

It is now recognized that the following conditions constitute one and the same disease: intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa and cirrhosis, neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities, and intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.