Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) Differential Diagnoses

Updated: Sep 01, 2022
  • Author: Laura F McGevna, MD; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Erythroderma in a newborn can be misdiagnosed as nonbullous congenital ichthyosiform erythroderma (NBCIE), generalized seborrheic dermatitis, acrodermatitis enteropathica, or erythrokeratoderma variabilis. Most of these children's conditions are misdiagnosed as Leiner disease, which is a descriptive term for congenital erythroderma, failure to thrive, and diarrhea and not a specific disease entity. [66]

Netherton syndrome should be at the top of the differential diagnosis list in a newborn with erythroderma and abnormal-looking scalp hair. Genetic testing of SPINK5 helps distinguish Netherton syndrome from other forms of NBCIE.

Delay in diagnosis, or misdiagnosis, results from the fact that the characteristic changes of Netherton syndrome (ie, trichorrhexis invaginata, ichthyosis linearis circumflexa) usually do not occur before age 2 years. With a low index of suspicion, the conditions can be misdiagnosed as nonbullous congenital ichthyosiform erythroderma (NBCIE), atopic dermatitis, or Leiner disease. In fact, Altman and Stroud [67] reported in 1969 that most cases described as NBCIE were, in fact, ichthyosis linearis circumflexa.

Also consider DOCK8 deficiency, which is elevated serum IgE, eosinophilia, eczematous dermatitis, and recurrent sinopulmonary and staphylococcal and viral skin infections. [68]

Further, consider phosphoglucomutase 3 deficiency, which is a novel autosomal recessive condition associated with eczematous dermatitis, recurrent infections, and elevated IgE levels. [68]

Differential Diagnoses