|Year : 2020 | Volume
| Issue : 1 | Page : 93-95
A child with erythroderma and hair defects
Spandana Prakash Hegde, Manjunath Mala Shenoy, Malcolm Pinto, Amina Asfiya
Department of Dermatology Venereology and Leprosy, Yenepoya Medical College, Mangalore, Karnataka, India
|Date of Submission||20-Mar-2020|
|Date of Decision||25-Apr-2020|
|Date of Acceptance||26-May-2020|
|Date of Web Publication||20-Jun-2020|
Dr. Manjunath Mala Shenoy
Department of Dermatology Venereology and Leprosy, Yenepoya Medical College, Mangalore, Karnataka
Source of Support: None, Conflict of Interest: None
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
| Introduction|| |
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. 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|| |
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 2: Annular erythematous plaques with serpiginous borders showing double edges scales over the lower extremities: Ichthyosis linearis circumflexa|
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|Figure 4: Light microscopic examination of scalp hair showing Trichorrhexis invaginata (bamboo hair) (×40)|
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| Discussion|| |
Netherton syndrome is a rare autosomal-recessive disorder characterized by ILC with variable erythroderma, TI, and atopic diathesis. The incidence of Netherton syndrome is estimated to be about 1/200,000 births. 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). 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.
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. The ILC may show a waxing and waning activity throughout lifetime and may be pruritic. 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. The scalp hair appears to be dry, coarse, brittle, and sparsely distributed. Our case also had sparseness of hair over the scalp along with TI. Trichorrhexis nodosa, pili torti, and helical hairs are uncommonly seen., 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.,,
Approximately 30%–75% of cases of Netherton syndrome have atopic diathesis. 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.,
Erythroderma due to Netherton syndrome may be misdiagnosed as psoriasis due to the similarity in clinical and histopathological findings. It may also mimic atopic dermatitis in view of skin involvement and raised serum IgE levels. 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. 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., Intravenous immunoglobulin and infliximab (a recombinant humanized monoclonal anti-tumor necrosis factor-α antibody) have also been used in severe forms of the disease.,
| Conclusion|| |
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.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]