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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 3  |  Page : 120-122

Netherton's syndrome


Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota, Rajasthan, India

Date of Web Publication30-Oct-2014

Correspondence Address:
Suresh Jain
Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota - 324 001, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.143665

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  Abstract 

Netherton syndrome (NS) is a rare disorder consisting of ichthyosis, hair shaft abnormalities and atopic dermatitis. It is inherited in an autosomal recessive pattern. Patients with NS have been found to have a mutation in a gene named serine protease inhibitor, Kazal type-5. Here, we report a female child with NS.

Keywords: Atopic diathesis, congenital erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata


How to cite this article:
Kumar R, Abhinandan H B, Mehta P, Jain S. Netherton's syndrome. Indian J Paediatr Dermatol 2014;15:120-2

How to cite this URL:
Kumar R, Abhinandan H B, Mehta P, Jain S. Netherton's syndrome. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Dec 4];15:120-2. Available from: https://www.ijpd.in/text.asp?2014/15/3/120/143665


  Introduction Top


Netherton's syndrome (NS) is a rare autosomal recessive disorder comprised with triad of ichthyosis in the form of ichthyosis linearis circumflexa (ILC), hair shaft defects including trichorrhexis invaginata, trichorrhexis nodosa and pili torti and atopic dermatitis with an elevated serum IgE level. [1],[2]


  Case report Top


The present case report is about a 6-year-old female child was reported with her parents to our out-patient department for generalized erythema, pruritus and scaling skin since birth. She was born after a normal pregnancy course without any perinatal complications. Her skin condition course waxed and waned, without clear efficacy of treatment with various therapies (including topical steroids). She did not have a history of recurrent skin infections and her hair was described as fairly normal immediately postpartum, but her mother noted significant fragility with easy breakage. As the patient grew older, her hair fragility waxed and waned, with periods of excessive scalp scaling. Her mother stated that the patient never had significant alopecia. She did not have a history of atopy. Child was normal with mental and developmental milestones according to age. Her family history was significant for her mother having allergic rhinitis and her brother with atopic dermatitis. There was no history of parental consanguinity.

On physical examination, she had generalized xerosis, erythema and excoriations, involving her neck, back, upper chest wall, flexural creases of upper and lower extremities with characteristic polycyclic erythematous patches and serpiginous double edged scales [Figure 1]. Her cheeks had very bright erythema with a fine overlying scale. There were some areas of patchy thinning and scaling with mild erythema in her scalp. She had coarse, straight, lusterless hairs with some areas having more breakage than others [Figure 2]. Her eyebrows were patchy throughout, but especially lateral side. She had normal nails. The patient did not have any oral lesions or enlarged lymph nodes. Light microscopy of her hair shaft revealed trichorrhexis nodosa [Figure 3].
Figure 1: Polycyclic erythematous patches and serpiginous double edged scales

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Figure 2: Coarse, straight, lusterless hairs

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Figure 3: (×40) Light micrograph of the hair shaft: Trichorrhexis nodosa

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  Discussion Top


ILC is migratory polycyclic erythematous patches surrounded by a serpiginous overlying double edged scale. It was first described by Dr. Comel in 1949. Netherton described the bamboo-like deformity in the hairs of a girl with erythematous scaly dermatitis in 1958. NS has evolved with features consisted of the triad of trichorrhexis invaginata, ILC and an atopic diathesis. [1] The incidence of NS is estimated to be approximately 1 in 2 lakh with thought to be the cause of the approximately 18% of congenital erythrodermas. [3]

The gene for NS has been identified on chromosome 5q32, named serine protease inhibitor, Kazal type-5. It encodes an inhibitor of serine proteases called Lympho-epithelial Kazal-type-related inhibitor (LEKTI). This protein is highly expressed in the thymus and mucosal epithelium. LEKTI was found to be the precursor of at least two proteolytic fragments (D1 and D6). LEKTI may play a role in anti-inflammatory and/or antimicrobial protection of mucous epithelium. This protein is also highly expressed in cultured epidermal keratinocytes; hence it could have a similar function in the epidermis.

Serine proteases and their inhibitors play a critical role in immune and inflammatory processes, including T- and B-cell differentiation, activation of cytokines and complement and recruitment of inflammatory cells. LEKTI could target the mast cell tryptase, a key mediator in immediate hypersensitivity reaction that activates protease-activated receptors present on the cell surface of human keratinocytes. Several serine proteases are involved in epidermal differentiation as well and in this manner LEKTI mutations can impact keratinocytes.

Trichorrhexis invaginata (bamboo hair) is a focal defect of the hair shaft that produces development of torsion nodules and invaginated nodules. The proximal element of the node overlaps the distal portion, leading an intussusception. If hair is pulled distally from this focal defect, a golf-tee-like deformity is remains. Usually 20-50% of hairs are affected; therefore hairs should be cut (not plucked) from multiple areas of the scalp for examination. Hairs can also be taken from axillary, pubic and eyebrow regions for microscopy. [4]

Sometimes naked eyes may able to see the hair shaft nodules caused by this defect. [5] Scalp hairs are described to be sparse and brittle. Hair shaft abnormalities are occurs due to intermittent incomplete formation of disulfide bonds in the keratogenous zone. [6] Other hair shaft abnormalities have been found in NS, including pili torti, trichorrhexis nodosa and helical hairs. [6],[7]

The patients with NS have atopic diathesis, comprises of eczematous eruptions, atopic dermatitis, asthma, pruritus, allergic rhinitis, angioedema, urticaria, elevated serum IgE level and/or hypereosinophilia. [1]

Treatment

Many treatment modalities have been tried in patients with NS. Topical corticosteroids are the cornerstone. Patients with NS are more susceptible to systemic absorption of topical medication and are therefore at increased risk of adverse reactions. Various systemic therapies have been attempted, including low-dose oral corticosteroids, retinoids and psoralen ultraviolet - a therapy. Topical tacrolimus have minimal benefit and may be contraindicated for patients with extensive skin involvement, again due to concern for systemic absorption.

 
  References Top

1.Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm 1958;78:483-7.  Back to cited text no. 1
[PUBMED]    
2.DiGiovanna JJ. Ichthyosiform dermatoses: So many discoveries, so little progress. J Am Acad Dermatol 2004;51:S31-4.  Back to cited text no. 2
[PUBMED]    
3.Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002;118:352-61.  Back to cited text no. 3
    
4.Smith DL, Smith JG, Wong SW, deShazo RD. Netherton′s syndrome: A syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995;95:116-23.  Back to cited text no. 4
    
5.Gupta AK, Love P, Rasmussen JE. Hair abnormalities and a rash with a double-edged scale. Netherton′s syndrome. Arch Dermatol 1986;122:1201, 1203-4.  Back to cited text no. 5
    
6.Ito M, Ito K, Hashimoto K. Pathogenesis in trichorrhexis invaginata (bamboo hair). J Invest Dermatol 1984;83:1-6.  Back to cited text no. 6
[PUBMED]    
7.Lurie R, Garty BZ. Helical hairs: A new hair anomaly in a patient with Netherton′s syndrome. Cutis 1995;55:349-52.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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