Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) Workup

  • Author: Tina S Chen, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 17, 2011
 

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.[35]
    • Some have noted that eyebrows and eyelashes may develop trichorrhexis invaginata earlier; therefore, they should be the specimen of choice.[36] Obtain the hair specimen by clipping because plucking fractures the hair shaft at the node, rendering microscopy difficult.
    • All patients have other hair-shaft defects (eg, pili torti, weathering).
  • 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.
    • Ultrastructural studies have shown a reduced number of tonofilament-keratohyaline structures, desmosomes, and distorted lamellar bodies. The stratum corneum may lose its lamellar structure.[37, 38, 39]
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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.

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Procedures

Skin biopsy of the skin abnormality may be performed.

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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 al[40] 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.

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Contributor Information and Disclosures
Author

Tina S Chen, MD  Pediatric Dermatology Fellow, Rady Children's Hospital, Department of Dermatology, University of California, San Diego

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

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.

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 and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

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, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

Acknowledgments

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.

References

  1. Ali M, Marks R, Young E, et al. Netherton's syndrome. A familial occurrence. Br J Dermatol. 1998;226-271.

  2. Comel M. Ichthyosis linearis circumflexa. Dermatologia. 1949.

  3. Fruhwald R. Zur frage der comelschen krankheit. Dermatol Wochenschr. 1949;150:289.

  4. Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm. Oct 1958;78(4):483-7. [Medline].

  5. Wilkinson RD, Curtis GH, Hawk WA. Netherton's disease: Trichorhexis invafinata (bamboo hair), congenital ichthyosiform erythroderma and atopic diathesis; a histopatholgic study. Arch Dermatol. Jan 1964;89:46-54. [Medline].

  6. Mevorah B, Frenk E, Brooke EM. Ichthyosis linearis circumflexa comel. A clinico-statistical approach to its relationship with Netherton's syndrome. Dermatologica. 1974;149(4):201-9. [Medline].

  7. Chavanas S, Garner C, Bodemer C, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet. Mar 2000;66(3):914-21. [Medline].

  8. Namkung JH, Lee JE, Kim E, Byun JY, Kim S, Shin ES, et al. Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans. Exp Dermatol. Dec 2010;19(12):1048-53. [Medline].

  9. Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, et al. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest. Mar 1 2010;120(3):871-82. [Medline]. [Full Text].

  10. Sales KU, Masedunskas A, Bey AL, Rasmussen AL, Weigert R, List K, et al. Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. Nat Genet. Aug 2010;42(8):676-83. [Medline]. [Full Text].

  11. Komatsu N, Saijoh K, Jayakumar A, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. May 2008;128(5):1148-59. [Medline].

  12. Jones SK, Thomason LM, Surbrugg SK, Weston WL. Neonatal hypernatraemia in two siblings with Netherton's syndrome. Br J Dermatol. Jun 1986;114(6):741-3. [Medline].

  13. Stoll C, Alembik Y, Tchomakov D, et al. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns. 2001;12(3):237-43. [Medline].

  14. Hausser I, Anton-Lamprecht I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol. May-Jun 1996;13(3):183-99. [Medline].

  15. Traupe H. The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin: Spirnger Verlag; 1989.

  16. 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].

  17. Neri I, Balestri R, Starace M, Bardazzi F, Patrizi A. Videodermoscopy of eyelashes in Netherton syndrome. J Eur Acad Dermatol Venereol. Nov 25 2010;[Medline].

  18. Goujon E, Beer F, Fraitag S, Hovnanian A, Vabres P. 'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome. J Eur Acad Dermatol Venereol. Jun 2010;24(6):740-1. [Medline].

  19. 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].

  20. Powell J. Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. Arch Dermatol. Mar 2000;136(3):423-4. [Medline].

  21. 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].

  22. Natsuga K, Akiyama M, Shimizu H. Malignant skin tumours in patients with inherited ichthyosis. Br J Dermatol. Aug 2011;165(2):263-8. [Medline].

  23. 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].

  24. Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. Jun 2000;25(2):141-2. [Medline].

  25. Culbertson MR. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. Feb 1999;15(2):74-80. [Medline].

  26. Hosomi N, Fukai K, Nakanishi T, Funaki S, Ishii M. Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. Br J Dermatol. Sep 2008;159(3):744-6. [Medline].

  27. Bitoun E, Micheloni A, Lamant L, et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet. Oct 1 2003;12(19):2417-30. [Medline].

  28. Briot A, Lacroix M, Robin A, Steinhoff M, Deraison C, Hovnanian A. Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. J Invest Dermatol. Dec 2010;130(12):2736-42. [Medline].

  29. Bitoun E, Chavanas S, Irvine AD, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. Feb 2002;118(2):352-61. [Medline].

  30. Capri Y, Vanlieferinghen P, Boeuf B, Dechelotte P, Hovnanian A, Lecomte B. [A lethal variant of Netherton syndrome in a large inbred family]. Arch Pediatr. Mar 2011;18(3):294-8. [Medline].

  31. Hachem JP, Wagberg F, Schmuth M, et al. Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome. J Invest Dermatol. Jul 2006;126(7):1609-21. [Medline].

  32. Komatsu N, Saijoh K, Jayakumar A, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. May 2008;128(5):1148-59. [Medline].

  33. 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].

  34. Goodyear HM, Harper JI. Leiner's disease associated with metabolic acidosis. Clin Exp Dermatol. Sep 1989;14(5):364-6. [Medline].

  35. de Berker DA, Paige DG, Ferguson DJ, Dawber RP. Golf tee hairs in Netherton disease. Pediatr Dermatol. Mar 1995;12(1):7-11. [Medline].

  36. Powell J. Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. Arch Dermatol. Mar 2000;136(3):423-4. [Medline].

  37. Fartasch M, Williams ML, Elias PM. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. Arch Dermatol. Jul 1999;135(7):823-32. [Medline].

  38. Frenk E, Mevorah B. Ichthyosis linearis circumflexa Comèl with Trichorrhexis invaginata (Netherton's Syndrom): an ultrastructural study of the skin changes. Arch Dermatol Forsch. 1972;245(1):42-9. [Medline].

  39. Komatsu N, Takata M, Otsuki N, et al. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. J Invest Dermatol. Mar 2002;118(3):436-43. [Medline].

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

  41. Wehr RF, Hickman J, Krochmal L. Effective treatment of Netherton's syndrome with 12% lactate lotion. J Am Acad Dermatol. Jul 1988;19(1 Pt 1):140-2. [Medline].

  42. 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].

  43. Yan AC, Honig PJ, Ming ME, Weber J, Shah KN. The safety and efficacy of pimecrolimus, 1%, cream for the treatment of Netherton syndrome: results from an exploratory study. Arch Dermatol. Jan 2010;146(1):57-62. [Medline].

  44. Nagata T. Netherton's syndrome which responded to photochemotherapy. Dermatologica. 1980;161(1):51-6. [Medline].

  45. Hausser I, Anton-Lamprecht I, Hartschuh W, Petzoldt D. Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy. Arch Dermatol Res. 1989;281(3):165-72. [Medline].

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

  47. 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].

  48. Fontao L, Laffitte E, Briot A, Kaya G, Roux-Lombard P, Fraitag S, et al. Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin. J Invest Dermatol. Jun 9 2011;[Medline].

  49. Di WL, Larcher F, Semenova E, Talbot GE, Harper JI, Del Rio M, et al. Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts. Mol Ther. Feb 2011;19(2):408-16. [Medline]. [Full Text].

  50. Roedl D, Oji V, Buters JT, Behrendt H, Braun-Falco M. rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients. J Dermatol Sci. Mar 2011;61(3):194-8. [Medline].

  51. Draheim KM, Lyle S. Epithelial stem cells. Methods Mol Biol. 2011;750:261-74. [Medline].

  52. Altman J, Stroud J. Neterton's syndrome and ichthyosis linearis circumflexa. Arch Dermatol. Nov 1969;100(5):550-8. [Medline].

 
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