Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) Clinical Presentation

Updated: Dec 18, 2017
  • Author: Laura F McGevna, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print
Presentation

History

Erythroderma

Most children with Netherton syndrome develop congenital erythroderma, which is evident at birth or during the first weeks of life, placing them at risk for thermal and electrolyte imbalances, dehydration, and sepsis, owing to the profoundly altered epidermal barrier.

Some children do not survive the neonatal period.

Pruritus is a near constant feature.

The erythrodermic phenotype may persist in some individuals for life, but it is more commonly replaced by the characteristic atopic appearance.

Failure to thrive

Failure to thrive may be marked in the first year of life and is often accompanied by symptoms of dermopathic enteropathy, which is a vague condition characterized by steatorrhea that occasionally accompanies erythroderma. Jejunal villous atrophy has been demonstrated in some patients with Netherton syndrome.

Delayed growth and bone development may continue until approximately the second year of life, when most children improve. However, the majority of patients remain below the 25th percentile for height (short stature) and weight secondary to malnutrition.

Allergic manifestations

All patients eventually develop food allergy, particularly to peanuts, eggs, and fish. Most have an atopic predisposition, with a strong family history of asthma, eczema, and hay fever.

Next:

Physical Examination

The origin of the term ichthyosis comes from the Greek ichthys, meaning scaly. In fact, Netherton syndrome has been classified as an ichthyosiform syndrome given the occurrence of ichthyosis linearis circumflexa. However, in most children, the most common eruption is an eczematous dermatitis, with characteristic periorificial accentuation. In one study, flexural lichenification was found in all 7 patients and 2 patients had verrucous hypertrophy of the axillae, the inguinal folds, and the lower legs. Ectropion and taut facial skin can develop in older patients with severe disease.

Collodial membrane

It is generally accepted that collodion membrane is distinct and unrelated to Netherton syndrome. In fact, one study reports that colloidal membrane never leads to Netherton syndrome. [32] However, Netherton syndrome has been described as a rare outcome of collodion baby, and the accuracy of this association is debated.

Ichthyosis linearis circumflexa

Ichthyosis linearis circumflexa is characterized by polycyclic and serpiginous migratory pink-red plaques with double-edged scale at the margins. It is a hallmark of Netherton syndrome.

Ichthyosis linearis circumflexa usually occurs after age 2 years and is fairly short-lived, lasting from a few weeks (followed by clearance for months) to years.

Ichthyosis linearis circumflexa appears to last longer in adults than in children.

Ichthyosis linearis circumflexa has been reported as an isolated cutaneous finding in the absence of documented Netherton syndrome in very rare cases, [33] largely prior to our understanding of the genetics of the condition. However, in 2015 its presence was reported in two siblings with a SPINK5 mutation, and it was the only clinical manifestation suggestive of Netherton syndrome. [34] It is likely pathognomonic of the condition.

Hair features (trichorrhexis invaginata)

Trichorrhexis invaginata usually develops after age 1 year.

All patients have sparse, abnormal hair. The hair is short, spiky, lusterless, and brittle.  Clinically, these changes are most apparent over pressure areas such as the occipital and temporal scalp. [35]

Scalp hair grows for a few centimeters before breaking. This finding is particularly evident at the areas of friction, especially the occiput and the temples. The eyebrows also have sparse, broken hair. Older patients may lose their eyebrows and eyelashes altogether.

Microscopic evaluation of clinically normal-appearing hairs may reveal defects. Identifying the bamboo node on the hair shaft using simple microscopy is necessary because unaided visual detection is practically impossible. Dermatoscopic evaluation can aid in detection. [36]   Goujon et al described three characteristic dermatoscopic changes, including bamboo hairs, golf-tee hairs, and matchstick hairs, which are short hair shafts with bulging tips, thought to be due to breakage of bamboo hairs. [37]

The relationship with trauma to the severity of hair-shaft defects is probably overemphasized.

The severity is likely defined by the gene penetrance and tends to improve with age, but the course can be punctuated by intermittent exacerbations.

Pili torti is common.

Trichorrhexis nodosa may also occur, but it is not specific for this condition.

Atopic diathesis

Findings include atopic dermatitis, allergic rhinitis, and asthma.

Previous
Next:

Complications

The following complications are recognized:

  • Cutaneous and systemic infections

  • Failure to thrive and diarrhea

  • Temperature instability

  • Electrolyte imbalances, including hypernatremic dehydration

  • Severe angioedema and allergies

  • Atopic manifestations with abnormal accumulation of affected keratinocytes: In children this may lead to altered hearing if the keratin debris is not frequently removed from the ear canal.

  • Erythroderma and ichthyosis linearis circumflexa

Some patients affected by Netherton syndrome have shown cognitive impairment and developmental delay. Impaired cellular immunity may also be a feature of this condition. The development of aminoaciduria has been described. [38]

Rare complications have also been described, including intracranial hemorrhage, hypothyroidism, rickets, pulmonary hypertension, renal vein thrombosis, and acute pancreatitis. [28, 39, 40, 41, 42, 43]

It remains unclear whether patients have an increased susceptibility for skin malignancies such as squamous cell carcinoma. [44] However, the development of squamous cell carcinomas has been reported in at least six patients, including in the vulva and on the penis. [45]

At least one case of dilated cardiomyopathy in a patient with Netherton syndrome, ultimately requiring cardiac transplantation, has been described in the literature. In the setting of resulting immune suppression, the patient went on to develop CD 30+ primary cutaneous T-cell lymphoproliferative disorder. [46]

Previous