Trichorrhexis Nodosa Clinical Presentation

Patients with trichorrhexis nodosa present with a history of white flecking and abnormal fragility of the hair and failure to attain normal hair length.

Congenital trichorrhexis nodosa becomes apparent at a young age. It may occur alone or in conjunction with the characteristic defects of the underlying disorder. Possible congenital underlying disorders include Menkes disease, argininosuccinic aciduria, and trichothiodystrophy. Common concurrent symptoms are mental retardation,^[6] motor defects, growth failure, and seizures. Other associated symptoms may include nail and skin changes (ichthyosis), photosensitivity, ocular dystrophy, and infertility. A family history of similar hair problems or of convulsive disorder, mental deficiency, or other inheritable syndrome may indicate a congenital cause for trichorrhexis nodosa.

Acquired trichorrhexis nodosa falls into 3 basic categories: proximal, distal, and localized, as follows:

• Proximal trichorrhexis nodosa is common in blacks that use caustic chemicals (relaxers) when styling their hair. The involved hairs develop the characteristic nodes and break a few centimeters from the skin surface in areas subject to friction from combing or sleeping. This breakage results in areas of alopecia. Some people appear to be more susceptible than others, perhaps on a genetic basis.
• Distal trichorrhexis nodosa primarily occurs in white or Asian individuals. Nodes and breakage occur several inches from the scalp, producing hair that appears dull and uneven. Breakage is usually the result of excessive hair styling and is commonly associated with trichoptilosis, or longitudinal splitting, also referred to as split ends.
• Localized trichorrhexis nodosa occurs in a patch, usually a few centimeters across. It is usually accompanied by a pruritic dermatosis, such as circumscribed neurodermatitis, contact dermatitis, or atopic dermatitis. Scratching and rubbing are most likely the ultimate cause.

All patients should be questioned about their routine hair care habits and environmental or chemical exposures to determine the source of physical or chemical trauma.

Trichorrhexis nodosa is seen with Menkes disease. Epilepsy is one of its main features: early focal status, then infantile spasms, and then myoclonic and multifocal epilepsy after age 2 years.^[7]

A child with facial dysmorphism, hepatomegaly, wooly hair, and trichorrhexis nodosa was first seen with mild colitis. She had a mild variant of tricho-hepato-enteric syndrome.^[8]

On clinical inspection, 1 or more nodes are found as whitish specks on the affected hair shaft. The number of nodes varies, depending on the length of the shaft. Affected hairs of the scalp can be patchy or diffuse in distribution. Body and pubic hairs may be involved. Examination of the underlying skin may reveal lichenification or a pruritic dermatosis, especially in cases of acquired localized trichorrhexis nodosa.

Trichorrhexis nodosa is the result of physical or chemical trauma to the hair shaft. Incorrect use of ceramic flat irons can produce acquired trichorrhexis nodosa.^[9] A primary congenital form of trichorrhexis nodosa is inherited as an autosomal dominant trait in some families. It can also occur as part of the autosomal recessive TRES (see Pathophysiology).

The cutaneous photosensitivity that is sometimes evident may be the result of defective nucleotide excision repair. Three genes, XPB, XPD, and TTDA, has been linked as causative genes for this photosensitivity.^[10]