eMedicine Specialties > Dermatology > Diseases of the Adnexa

Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair): Follow-up

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

Follow-up

Complications

  • Cutaneous and systemic infections
  • Failure to thrive and diarrhea
  • Temperature instability
  • Electrolyte imbalances, including hypernatremic dehydration
  • Severe angioedema and allergies
  • Atopic manifestations
  • Erythroderma and ichthyosis linearis circumflexa

Prognosis

  • Erythroderma and hair abnormality persist. The disease tends to improve as patients age, but the course can be punctuated by intermittent exacerbations.
  • The erythroderma can change to ichthyosis linearis circumflexa periodically.
  • Skin colonization and cutaneous infections are common.

Patient Education

National Organization for Rare Disorders - 55 Kenosia Avenue, PO Box 1968, Danbury, CT 06813-1968

Miscellaneous

Medicolegal Pitfalls

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 Stroud40 reported in 1969 that most cases described as NBCIE were, in fact, ichthyosis linearis circumflexa.

 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Mohsin Ali, MBBS, FRCP, MRCP, to the development and writing of this article.



More on Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)

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Treatment & Medication: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
Follow-up: Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
References
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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. 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].

  9. 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].

  10. 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].

  11. 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].

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

  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].

  15. 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].

  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].

  17. 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].

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

  19. 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].

  20. 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].

  21. 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].

  22. 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].

  23. 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].

  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].

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

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

  27. 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].

  28. 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].

  29. 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].

  30. 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].

  31. 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].

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

  33. 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].

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

  35. 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].

  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].

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