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Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) Differential Diagnoses

  • Author: Laura F McGevna, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Dec 15, 2015
 
 

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.[36]

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[37] reported in 1969 that most cases described as NBCIE were, in fact, ichthyosis linearis circumflexa.

Also consider DOCK 8 deficiency, which is elevated serum IgE, eosinophilia, eczematous dermatitis, and recurrent sinopulmonary and staphylococcal and viral skin infections.[38]

Further, consider phosphoglucomutase 3 deficiency, which is a novel autosomal recessive condition associated with eczematous dermatitis, recurrent infections, and elevated IgE levels.[38]

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Laura F McGevna, MD Assistant Professor of Medicine, Dermatology Division, University of Vermont College of Medicine

Laura F McGevna, MD is a member of the following medical societies: American Academy of Dermatology, Dermatology Foundation

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

James W Patterson, MD Professor of Pathology and Dermatology, Director of Dermatopathology, University of Virginia Medical Center

James W Patterson, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Society of Dermatopathology, Royal Society of Medicine, Society for Investigative Dermatology, United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Tina S Chen Twu, MD Pediatric Dermatologist/Dermatologist, Sharp Rees-Stealy Medical Group, San Diego, CA

Tina S Chen Twu, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

The author and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Mohsin Ali, MBBS, FRCP, MRCP, and David T Robles, MD, PhD, to the development and writing of this article.

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