eMedicine Specialties > Dermatology > Diseases of the Adnexa

Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair): Differential Diagnoses & Workup

Author: Tina S Chen, MD, Resident Physician, Department of Dermatology, University of California of Irvine, School of Medicine
Coauthor(s): David T Robles, MD, PhD, Dermatologist, Kaiser Permanente Southern California
Contributor Information and Disclosures

Updated: Nov 6, 2009

Differential Diagnoses

Acrodermatitis Enteropathica
Omenn syndrome
Erythroderma (Generalized Exfoliative Dermatitis)
Psoriasis, Plaque
Erythrokeratodermia Variabilis
Seborrheic Dermatitis
Hyperimmunoglobulin E syndrome
Wiskott-Aldrich Syndrome
Nonbullous congenital ichthyosiform erythroderma

Other Problems to Be Considered

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.25

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.

Workup

Laboratory Studies

  • Blood
    • Serum immunoglobulin E (IgE) levels can be increased.
    • Specific IgE antibodies to environmental and food allergens can be detected.
    •  Hypereosinophilia can be present.
    • Other minor and inconsistent immunologic abnormalities have been reported; these abnormalities include transient neutrophil function defects, impaired cellular and immune responses, and raised complement levels (C3 and C4). 
  • Light microscopy of the hair
    • Examine eyebrows or eyelashes for trichorrhexis invaginata, which appears as bamboo nodes when seen under the light microscope.
    • Trichorrhexis invaginata is the focal cup-and-ball hair-shaft deformity, with the invagination of the distal hair shaft (ball) into the expanded proximal hair shaft (cup) seen on scanning. This finding is described as a “golf tee” and is characteristic.26
    • Some have noted that eyebrows and eyelashes may develop trichorrhexis invaginata earlier; therefore, they should be the specimen of choice.27 Obtain the hair specimen by clipping because plucking fractures the hair shaft at the node, rendering microscopy difficult.
  • Scanning electron microscopy
    • Electron microscopy shows trichorrhexis invaginata in 10-30% of clipped hair after age 2 years.
    • The hair fractures at the invaginated node, which is the weakest point in the hair shaft. Electron microscopy can be used to identify these proximal halves of invaginate nodes, which show a cuplike appearance from which the ball of the distal hair has fallen out.
  • Dermoscopy can be used to detect trichorrhexis invaginata.28
  • Trichorrhexis invaginata and ichthyosis linearis circumflexa usually develop after age 2 years, but hair should be examined every 6 months because it rarely may occur earlier.
  • Ultrastructural studies have shown a reduced number of tonofilament-keratohyaline structures, desmosomes, and distorted lamellar bodies. The stratum corneum may lose its lamellar structure.29,30,31
  • All patients have other hair-shaft defects (eg, pili torti, weathering).

Other Tests

DNA testing of the SPINK5 gene makes several options possible, including prenatal diagnosis, early diagnosis via postnatal testing, and carrier detection in unaffected family members. Mutations can be identified in two thirds to three quarters of patients with clinically suspected Netherton syndrome. Genetic testing can aid in genetic counseling. Testing is available through GeneDx.

Procedures

Skin biopsy of the skin abnormality may be performed.

Histologic Findings

The histologic features of Netherton syndrome are not diagnostic and vary according to the type of the lesion and when the biopsy sample was obtained. Features of nonspecific dermatitis and psoriasiform hyperplasia are the most common histologic features. Hyperkeratosis is mild in comparison with other ichthyoses. Parakeratosis and an absent granular layer may occur at the spreading edge. A mixed inflammatory cell infiltrate is seen in a perivascular distribution. Arico et al32 reported increased numbers of CD1 cells similar to atopic dermatitis but also showed raised CD8 positivity rather than CD4 positivity in the dermis, unlike atopic dermatitis. Eosinophilic material (probably a glycoprotein) may accumulate within the granular or parakeratotic horny layer in ichthyosis linearis circumflexa lesions.
 
Similar to other severe congenital dermatoses, inflammatory changes are common in skin biopsy samples, but whether they are a primary or a secondary phenomenon is not known.

More on Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)

Overview: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
Differential Diagnoses & Workup: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
Treatment & Medication: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
Follow-up: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
References
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References

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  13. Larregue M, Guillet G. [Collodion baby with neonatal signs of trichothiodystrophy misdiagnosed as Netherton syndrome: reassessment of a previous diagnostic error]. Ann Dermatol Venereol. Mar 2007;134(3 Pt 1):245-8. [Medline].

  14. Burk C, Hu S, Lee C, Connelly EA. Netherton syndrome and trichorrhexis invaginata--a novel diagnostic approach. Pediatr Dermatol. Mar-Apr 2008;25(2):287-8. [Medline].

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  16. Magert HJ, Standker L, Kreutzmann P, et al. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem. Jul 30 1999;274(31):21499-502. [Medline].

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  24. Descargues P, Deraison C, Bonnart C, et al. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet. Jan 2005;37(1):56-65. [Medline].

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  32. Arico M, Leonardo S, Pravata G, et al. Netherton's syndrome in male. An immunohistochemical study. Pediatr Dermatol. 1996;13:183-99.

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  36. Hartschuh W, Hausser I, Petzoldt D. [Successful retinoid therapy of Netherton syndrome]. Hautarzt. Jul 1989;40(7):430-3. [Medline].

  37. Lazaridou E, Apalla Z, Patsatsi A, Trigoni A, Ioannides D. Netherton's syndrome: successful treatment with isotretinoin. J Eur Acad Dermatol Venereol. Feb 2009;23(2):210-2. [Medline].

  38. Allen A, Siegfried E, Silverman R, et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol. Jun 2001;137(6):747-50. [Medline].

  39. Wollina U, Hansel G, Koch A, Abdel-Naser MB. Topical pimecrolimus for skin disease other than atopic dermatitis. Expert Opin Pharmacother. Oct 2006;7(14):1967-75. [Medline].

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Further Reading

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Keywords

trichorrhexis invaginata, Netherton syndrome, bamboo hair, TI, NS, Netherton's syndrome, Còmel-Netherton syndrome, erythroderma, ichthyosis linearis circumflexa, ILC, atopic diathesis, hair-shaft defect, hair-shaft deformity, trichorrhexis nodosa

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Contributor Information and Disclosures

Author

Tina S Chen, MD, Resident Physician, Department of Dermatology, University of California of Irvine, School of Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

David T Robles, MD, PhD, Dermatologist, Kaiser Permanente Southern California
David T Robles, MD, PhD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

James W Patterson, MD, Director of Dermatopathology, Professor of Pathology and Dermatology, Departments of Pathology and Dermatology, 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 Medical Association, American Society of Dermatopathology, Medical Society of Virginia, Royal Society of Medicine, Society for Investigative Dermatology, and United States and Canadian Academy of Pathology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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