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Year : 2020  |  Volume : 8  |  Issue : 1  |  Page : 93-95

A child with erythroderma and hair defects

Department of Dermatology Venereology and Leprosy, Yenepoya Medical College, Mangalore, Karnataka, India

Date of Submission20-Mar-2020
Date of Decision25-Apr-2020
Date of Acceptance26-May-2020
Date of Web Publication20-Jun-2020

Correspondence Address:
Dr. Manjunath Mala Shenoy
Department of Dermatology Venereology and Leprosy, Yenepoya Medical College, Mangalore, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amhs.amhs_38_20

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Erythroderma in the early years of life can have a wide array of differential diagnosis. We present a case of infantile erythroderma who presented to us at the age of 3 years with characteristic manifestations of ichthyosis linearis circumflexa and trichorrhexis invaginata, thus helping us arrive at a diagnosis of Netherton syndrome without the aid of expensive genetic analysis. This case is presented for its rarity and to highlight the importance of clinical examination of the appendages which may be an important clue to the diagnosis.

Keywords: Erythroderma, ichthyosis linearis circumflexa, Netherton syndrome, trichorrhexis invaginata

How to cite this article:
Hegde SP, Shenoy MM, Pinto M, Asfiya A. A child with erythroderma and hair defects. Arch Med Health Sci 2020;8:93-5

How to cite this URL:
Hegde SP, Shenoy MM, Pinto M, Asfiya A. A child with erythroderma and hair defects. Arch Med Health Sci [serial online] 2020 [cited 2023 Jan 30];8:93-5. Available from: https://www.amhsjournal.org/text.asp?2020/8/1/93/287361

  Introduction Top

Erythroderma refers to any inflammatory and scaly dermatosis, involving over 90% of the body surface. Erythroderma in the pediatric age group can pose a diagnostic challenge to the dermatologist as it can be a manifestation of a preexisting dermatoses, infection, and inflammation, nutritional or metabolic disorder.[1] A careful examination of the appendages such as hair and nail may give a clue to the diagnosis. We present the case of erythroderma in a 3-year-old male child who had characteristic skin lesions with pathognomonic hair microscopy changes leading to the diagnosis of Netherton syndrome.

  Case Report Top

A 3-year-old boy, first child born of second-degree consanguineous marriage presented to the dermatology outpatient department with intensively pruritic, generalized scaly skin lesions for 3 months of age. The lesions initially began over the trunk and progressed to involve the extremities and scalp over a span of 6 months. He had no history suggestive of atopy. The antenatal course of the mother during pregnancy was uneventful with no perinatal complications. His father had a history of asthma. His vital parameters were stable, and his growth and developmental milestones were appropriate for age. Cutaneous examination revealed diffuse erythema along with multiple annular erythematous patches with serpiginous borders showing double-edged scales ichthyosis linearis circumflexa (ILC) involving the trunk and extremities [Figure 1] and [Figure 2]. He had scaly plaques over the scalp with sparseness of hair and a spiky appearance [Figure 3]. His eyebrows and eyelashes were normal. His teeth, nail, mucosal, and systemic examinations were unremarkable. The light microscopic analysis of the scalp hair showed invagination of the distal portion of the hair shaft into the proximal portion (bamboo hair) suggestive of trichorrhexis invaginata (TI) [Figure 4]. His complete blood counts and serum biochemistry were within the normal limits. He had an elevated serum IgE level (2546 IU/ml). Potassium hydroxide mount of the skin scrapings performed from the scaly plaques was negative for fungal elements. Histopathology and genetic analysis was not be carried out due to financial constraints. Based on the characteristic skin and hair findings of ILC and TI, respectively, and atopic diathesis with elevated serum IgE levels, a diagnosis of erythroderma due to Netherton syndrome was arrived at. The patient was treated with topical emollients and steroids.
Figure 1: Erythematous scaly plaques over the trunk

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Figure 2: Annular erythematous plaques with serpiginous borders showing double edges scales over the lower extremities: Ichthyosis linearis circumflexa

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Figure 3: Sparse scalp hair with spiky appearance

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Figure 4: Light microscopic examination of scalp hair showing Trichorrhexis invaginata (bamboo hair) (×40)

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  Discussion Top

Netherton syndrome is a rare autosomal-recessive disorder characterized by ILC with variable erythroderma, TI, and atopic diathesis.[1] The incidence of Netherton syndrome is estimated to be about 1/200,000 births.[2] It is caused by the mutation in the serine protease inhibitor, Kazal type 5 (SPINK-5) gene located on chromosome 5q32 which encodes a protein lympho-epithelial Kazal type-related inhibitor (LEKTI).[3] LEKTI is an inhibitor of the enzyme serine proteinase in the stratified epithelia. This mutation leads to an increased activity of epidermal proteases which results in excessive desquamation.[4]

Congenital erythroderma may be seen in 18% of cases with Netherton syndrome. The erythroderma then progresses to distinctive nonbullous ichthyosis with erythema and polycyclic plaques with characteristic double-edged scales termed as ILC.[3] The ILC may show a waxing and waning activity throughout lifetime and may be pruritic.[4] Our patient presented with erythroderma which manifested in the first few months of life which had a persistent course until 3 years of life.

The characteristic hair shaft defect observed in Netherton syndrome is TI (bamboo hair). TI is characterized by the formation of torsion nodules and invaginated nodules which can be clearly visualized under trichoscopy. An intussusception occurs due to the overlap of the proximal element of the node with the distal segment.[3] The scalp hair appears to be dry, coarse, brittle, and sparsely distributed.[4] Our case also had sparseness of hair over the scalp along with TI. Trichorrhexis nodosa, pili torti, and helical hairs are uncommonly seen.[5],[6] As hair changes may be seen in only 20%–50% of hairs, repetitive analysis of the scalp hair and eyebrows by dermatoscope or light microscope may give a clue to the diagnosis.[1],[3],[7]

Approximately 30%–75% of cases of Netherton syndrome have atopic diathesis.[8] They may present with eczematous lesions, atopic dermatitis, allergic rhinitis, bronchial asthma, pruritus, urticaria, angioneurotic edema, raised serum IgE levels, and peripheral eosinophila. The other rarer associations of Netherton syndrome include aminoaciduria, short stature, mental retardation, failure to thrive, and recurrent infections.[5],[9]

Erythroderma due to Netherton syndrome may be misdiagnosed as psoriasis due to the similarity in clinical and histopathological findings.[10] It may also mimic atopic dermatitis in view of skin involvement and raised serum IgE levels.[4] In such cases, examination of the hair and visualization of the hair shaft defects may aid the diagnosis.

Netherton syndrome can be diagnosed by detecting the SPINK5 mutation with the aid of DNA molecular analysis.[4] However, cost is a major limiting factor for its usage and is hence not routinely performed as in our case. The various treatment options include topical emollients and steroids, tacrolimus, systemic retinoids, and psoralen and ultraviolet A therapy, narrow band ultraviolet B therapy with variable results.[3],[11] Intravenous immunoglobulin and infliximab (a recombinant humanized monoclonal anti-tumor necrosis factor-α antibody) have also been used in severe forms of the disease.[12],[13]

  Conclusion Top

Netherton syndrome should be strongly considered as a differential diagnosis of congenital erythroderma. The detection of hair shaft defects may be an important clue leading to the diagnosis of Netherton syndrome.

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


Conflicts of interest

There are no conflicts of interest.

  References Top

Sarkar R, Garg S, Garg VK. Neonatal erythroderma (red baby). Indian J Paediatr Dermatol 2013;14:47-53.  Back to cited text no. 1
  [Full text]  
Yadav N, Madke B, Kar S, Gangane N. Netherton syndrome: An atypical presentation. Cutis 2019;103:E27-9.  Back to cited text no. 2
Kumar R, Abhinandan HB, Mehta P, Jain S. Netherton's syndrome. Indian J Paediatr Dermatol 2014;15:120-2.  Back to cited text no. 3
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Saleem HMK, Shahid MF, Shahbaz A, Sohail A, Shahid MA, Sachmechi I. Netherton syndrome: A case report and review of literature. Cureus 2018;10:e3070.  Back to cited text no. 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. 5
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. 6
Boussofara L, Ghannouchi N, Ghariani N, Denguezli M, Belajouza C, Nouira R. Netherton's syndrome: The importance of eyebrow hair. Dermatol Online J 2007;13:21.  Back to cited text no. 7
Salodkar AD, Choudhary SV, Jadwani G, Singh A. Bamboo hair in Netherton's syndrome. Int J Trichology 2009;1:143-4.  Back to cited text no. 8
Plantin P, Delaire P, Guillet MH, Labouche F, Guillet G. Netherton's syndrome. Current aspects. Apropos of 9 cases. Ann Dermatol Venereol 1991;118:525-30.  Back to cited text no. 9
Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Netherton syndrome masquerading as psoriatic erythroderma. Indian J Paediatr Dermatol 2014;15:89-91.  Back to cited text no. 10
  [Full text]  
Maatouk I, Moutran R, Tomb R. Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. Clin Exp Dermatol 2012;37:364-6.  Back to cited text no. 11
Roda Â, Mendonça-Sanches M, Travassos AR, Soares-de-Almeida L, Metze D. Infliximab therapy for Netherton syndrome: A case report. JAAD Case Rep 2017;3:550-2.  Back to cited text no. 12
Small AM, Cordoro KM. Netherton syndrome mimicking pustular psoriasis: Clinical implications and response to intravenous immunoglobulin. Pediatr Dermatol 2016;33:e222-3.  Back to cited text no. 13


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


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