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CASE REPORT
Year : 2016  |  Volume : 5  |  Issue : 3  |  Page : 185-187

Netherton syndrome presenting as recurrent erythroderma: A rare case report


Department of Dermatology, Venereology and Leprosy, Vydehi Institute of Medical Sciences, Bengaluru, Karnataka, India

Date of Web Publication5-Aug-2016

Correspondence Address:
Dr. K G Manjunath
Vydehi Hospital, # 82, EPIP Area, Whitefield, Bengaluru - 560 066, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-344X.187834

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  Abstract 

Netherton syndrome (NS) is a rare autosomal recessive ichthyosiform disease. The incidence is 1 in 200,000. It is caused by mutation in the serine protease inhibitor Kazal-type 5 gene which encodes the lymphoepithelial Kazal type-related inhibitor. It presents with ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopy. A 20-year-old male presented with erythroderma and further examination revealed atopic features. Dermoscopy was a convenient tool in identifying trichorrhexis nodosa. We are reporting a case of NS presenting as recurrent erythroderma.

Keywords: Dermoscopy, erythroderma, ichthyosis linearis circumflexa, Netherton syndrome, trichorrhexis invaginata


How to cite this article:
Manjunath K G, Kiran C, Prakash B, Singh S. Netherton syndrome presenting as recurrent erythroderma: A rare case report. Int J Health Allied Sci 2016;5:185-7

How to cite this URL:
Manjunath K G, Kiran C, Prakash B, Singh S. Netherton syndrome presenting as recurrent erythroderma: A rare case report. Int J Health Allied Sci [serial online] 2016 [cited 2019 Oct 21];5:185-7. Available from: http://www.ijhas.in/text.asp?2016/5/3/185/187834


  Introduction Top


Netherton syndrome (NS) is a rare autosomal recessive genodermatosis characterized by hair shaft defects, ichthyosis, and atopy. Clinically, it presents with ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopy. Here, we report a case of NS presenting as recurrent erythroderma. The incidence is 1 in 200,000. There are very few cases reported in India. This case is being presented for its rarity and use of dermascope for its early diagnosis.


  Case Report Top


A 20-year-old male presented with generalized scaling associated with chills of 2 months duration. He was born to a nonconsanguineous marriage. There was history of redness and scaling a week after birth. He gets episodes of generalized redness and scaling, 1-2 episodes per year, for the past 15 years. In between the episodes, few scaly plaques are present over trunk and extremities which resolve spontaneously in few days. Personal history of atopic like eczema and allergic rhinitis was present.

He was moderately built. Generalized erythema and scaling were present [Figure 1]. Multiple excoriations were seen. Chronic blepharitis with decreased eyelashes [Figure 2] and flexural lichenification [Figure 3] was present. Double-edged scaly eruptions were not seen at the time of examination. The scalp hair was short, dull, brittle, and decreased in density [Figure 4]. Nails were smooth and shiny.
Figure 1: Generalized erythema and scaling

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Figure 2: Chronic blepharitis with loss of eyelashes

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Figure 3: Flexural lichenification

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Figure 4: Hair was short, dull, brittle, and decreased in density

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Dermoscopy of scalp hair showed numerous bamboo hairs [Figure 5]. Light microscopy of scalp and eyebrow hair showed trichorrhexis invaginata [Figure 6].
Figure 5: Dermoscopy showing bamboo hair

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Figure 6: Light microscopy - trichorrhexis invaginata

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Blood test revealed eosinophilia and raised serum IgE (>3000).

Histopathology of skin lesions was nonspecific with psoriasiform changes.

On the basis of recurrent erythroderma, trichorrhexis invaginata, and atopic manifestations, a diagnosis of NS was made.


  Discussion Top


NS is a rare genetic disease caused by mutation in the serine protease inhibitor Kazal-type 5 gene which encodes the lymphoepithelial Kazal type-related inhibitor. [1] It is a severe autosomal recessive disease characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa (ILC), "bamboo hair" (trichorrhexis invaginata), and atopic diathesis with raised serum IgE levels. [2]

At birth, affected children may present with generalized erythroderma. Infants and children may have feeding problem, with poor absorption and failure to thrive. With atopic dermatitis, there may be pruritus, and scratching can lead to lichenification at flexures. [3] While many patients have recurrent ILC every few months, some have infrequent lesion. In severe NS, a fluctuating erythroderma persists, which may be triggered by intercurrent illness, and rarely, pustular lesions are superimposed. [4] Sometimes, NS can be easily misdiagnosed as psoriatic erythroderma. [5] Trichorrhexis invaginata is the pathognomonic hair shaft anomaly in this syndrome. Dermoscopy can aid in rapid and easy diagnosis of NS. [6] Light microscopy of hair shaft can be done to demonstrate TI. The areas of erythema and scaling show nonspecific changes with some resemblance to psoriasis. [7]

The risk of systemic side effects should be considered when using topical agents such as tacrolimus and topical steroids because of increased per cutaneous absorption. [3]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
van Smeden J, Janssens M, Boiten WA, van Drongelen V, Furio L, Vreeken RJ, et al. Intercellular skin barrier lipid composition and organization in Netherton syndrome patients. J Invest Dermatol 2014;134:1238-45.  Back to cited text no. 1
    
2.
Xi-Bao Z, San-Quan Z, Yu-Qing H, Yu-Wu L, Quan L, Chang-Xing L. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI. Indian J Dermatol 2012;57:265-8.  Back to cited text no. 2
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3.
Fleckman P, Digiovanna JJ. The ichthyosis. Fitzpatrick′s Dermatology in General medicine. 7 th ed., Vol. 1. New York: McGraw-Hill; 2008. p. 401-23.  Back to cited text no. 3
    
4.
Judge MR, McLean WE, Munro CS. Disorders of keratinization. Rook′s Text Book of Dermatology. 7 th ed., Vol. 2. Oxford: Blackwell Science; 2004. p. 34-5.  Back to cited text no. 4
    
5.
Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Netherton′s syndrome masquerading as psoriatic erythroderma. Indian J Paediatr Dermatol 2014;15:89-91.  Back to cited text no. 5
  Medknow Journal  
6.
Meltem Akkurt Z, Tuncel T, Ayhan E, Uçmak D, Uluca U, Uçak H. Rapid and easy diagnosis of Netherton syndrome with dermoscopy. J Cutan Med Surg 2014;18:280-2.  Back to cited text no. 6
    
7.
Johnson BL, Honig P. Congenital diseases (Genodermatosis). Lever′s Histopathology of the Skin. 9 th ed. Philedelphia: Lippincott Williams & Wilkins; 2005. p. 142.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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