Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) 

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

Background

Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with failure to thrive. Chronic skin inflammation results in scaling and exfoliation, predisposing these patients to life-threatening infections, sepsis, and dehydration. Skin manifestations and associated symptoms may vary considerably among individuals with Netherton syndrome.

Historical background

In 1937, Touraine and Solente[1] first noted the association between hair-shaft defects (bamboo node) and ichthyosiform erythroderma. Còmel[2] first coined the term ichthyosis linearis circumflexa in 1949, although Rille (Fruhwald[3] ) had previously recorded the distinctive features of ichthyosis linearis circumflexa by 1922.

In 1958, Netherton[4] described a young girl with generalized scaly dermatitis and fragile nodular hair-shaft deformities, which he termed trichorrhexis nodosa. Later, this was more appropriately renamed as trichorrhexis invaginata (bamboo hair) for a ball-and-socket–type hair-shaft deformity at the suggestion of Wilkinson et al.[5]

In 1974, Mevorah et al[6] established the clinical relationship between ichthyosis linearis circumflexa and Netherton syndrome, and an atopic diathesis was found to occur in approximately 75% of patients with Netherton syndrome.

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Pathophysiology

The Netherton syndrome (Mendelian Inheritance in Man [MIM] #256500) is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32),[7] which encodes the serine protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor). LEKTI is expressed in epithelial and mucosal surfaces and in the thymus. Each SPINK5 mutation leads to a different length of LEKTI protein, resulting in genotype/phenotype correlations in cutaneous severity, susceptibility to atopic dermatitis,[8] growth retardation, skin infection, increased stratum corneum protease activities,[9, 10] and elevated kallikrein levels in the stratum corneum.[11]

Trichorrhexis invaginata, or bamboo hair, is a hair shaft abnormality that occurs as a result of an intermittent keratinizing defect of the hair cortex. Incomplete conversion of the sulfhydryl –SH group onto S-S disulfide bonds in the protein of the cortical fibers leads to cortical softness and subsequent invagination of the fully keratinized distal hair shaft into the softer, abnormally keratinized proximal hair shaft. Intussusception of the distal hair shaft into the proximal hair shaft results in a distinctive ball-and-socket hair shaft deformity. The affected hairs are brittle and breakage is common, resulting in short hairs.

Migratory lesions of ichthyosis linearis circumflexa may be caused by a dermal influx of inflammatory cells that undergo phagocytosis and digestion by keratinocytes, resulting in disruption of keratinization.

Increased transepidermal water loss resulting from the disturbance of corneocyte barrier function in erythroderma may cause profound metabolic abnormalities and hypernatremia,[12, 13] particularly in neonates.[14]

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Epidemiology

Frequency

The frequency of trichorrhexis invaginata (bamboo hair) is not known.

International

Approximately 200 cases of trichorrhexis invaginata (bamboo hair) have been reported in the literature, but the true incidence is not known. The incidence of trichorrhexis invaginata (bamboo hair) may be as high as 1 case in 50,000 population.[15]

Mortality/Morbidity

Cutaneous and systemic infections are common and disturbing consequences in almost all patients with Netherton syndrome (see Complications).

Race

Netherton syndrome has been described in persons of all races.

Sex

Girls are affected more often by trichorrhexis invaginata (bamboo hair) than boys.

Age

Children affected by Netherton syndrome present with erythroderma within 1-6 weeks of birth.

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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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