|Year : 2014 | Volume
| Issue : 2 | Page : 89-91
Netherton syndrome masquerading as psoriatic erythroderma
Sacchidanand S Aradhya, Sahana M Srinivas, Ravi Hiremagalore, Asha G Shanmukappa
Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India
|Date of Web Publication||27-Aug-2014|
Sahana M Srinivas
Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka
Source of Support: None, Conflict of Interest: None
Netherton syndrome is a rare symptom complex characterized by an ichthyotic skin disorder, greatly elevated IgE levels with atopic manifestations, and characteristic hair shaft abnormalities. We report a 2-year-old male child, who presented with erythroderma, increased serum IgE levels, and trichorrhexis nodosa which can be easily misdiagnosed as psoriatic erythroderma.
Keywords: Netherton syndrome, psoriatic erythroderma, trichorrhexis nodosa
|How to cite this article:|
Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Netherton syndrome masquerading as psoriatic erythroderma. Indian J Paediatr Dermatol 2014;15:89-91
|How to cite this URL:|
Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Netherton syndrome masquerading as psoriatic erythroderma. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Feb 18];15:89-91. Available from: http://www.ijpd.in/text.asp?2014/15/2/89/139509
| Introduction|| |
Netherton syndrome (NS) is a rare autosomal recessive genodermatoses characterized by hair shaft defects, ichthyosis, and atopy.  It clinically presents during the neonatal or early infantile period with generalized scaling erythroderma, but not with the collodion baby phenotype. The specificity of clinical and histopathologic features of NS is low in neonates and young infants who present with predominantly erythroderma. We report a case of unusual form of NS which can be easily misdiagnosed as psoriasis.
| Case report|| |
A 2-year-old male child, born of second-degree consanguineous marriage, was referred to our pediatric dermatology outpatient department for evaluation of diffuse scaling erythroderma. The prenatal and perinatal history was unremarkable. The child was normal at birth, but developed wide spread erythema and desquamation at 3 months of age, which gradually progressed all over the body in a span of 6 months. Lesions persisted with no change in the morphology from 2 years. The child had recurrent respiratory infections. He had delayed developmental milestones with growth retardation.
On physical examination, the vitals were normal and his height and weight were below 3 rd percentile. Cutaneous examination revealed diffuse erythema and thick broad adherent scaling all over the body [Figure 1] and [Figure 2]. Scalp hair was sparse, brittle, and lusterless. Eyebrows and eyelashes were also sparse. Bilateral ectropion was present [Figure 2]. Nails showed longitudinal ridges with dystrophy. Systemic examination was normal.
The findings of the investigations were as follows. Complete hemogram showed eosinophilia and neutrophilia. Serum albumin was decreased. Serum IgE levels were increased fourfold. Skin biopsy showed focal parakeratosis, with Munro's microabscesses in the stratum corneum. There was moderate psoriasiform elongation of the rete ridges with spongioform pustules in the upper layers of epidermis. Dermis showed moderate lymphohistiocytic infiltrate [Figure 3]. Light microscopy of hair shaft revealed trichorrhexis nodosa [Figure 4]. Though histopathology changes showed spongioform pustules and Munro's microabscesses in the epidermis, characteristic of psoriasis, in view of the above features like infantile erythroderma, increased serum IgE level, and trichorrhexis nodosa, a final diagnosis of NS was made.
|Figure 3: Epidermis shows psoriasiform hyperplasia with Munro's microabscesses and spongioform pustules. Dermis shows moderate lymphohistiocytic infiltrate (H and E, ×10)|
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| Discussion|| |
In 1949, Comel described a form of ichthyosis called ichthyosis linearis circumflexa (ILC). It is a characteristic skin change associated with NS, characterized by migratory, polycyclic scaly lesions with a peripheral double-edged scale. In 1958, Netherton reported a patient with a generalized erythematous ichthyosiform dermatoses associated with bamboo hair abnormalities and allergic asthma.  NS has evolved with observation of patients to include the triad of trichorrhexis invaginata (TI), ILC, and an atopic diathesis. 
The incidence of NS is estimated to be approximately 1 in 200,000. NS is also thought to be the cause of up to 18% cases of congenital erythroderma.  The gene for NS has been identified on chromosome 5q32, and is named SPINK5 (serine protease inhibitor, kazal type 5), and encodes an inhibitor of serine proteases called LEKT1. 
NS usually presents at birth as erythroderma or may develop within first few weeks postpartum.  Later, the erythroderma develops into ILC. These infants with more severe symptoms are associated with failure to thrive, hypernatremic dehydration secondary to excess fluid loss from a defective skin barrier, delayed growth, short stature, and recurrent infections. Apart from raised total IgE, there are no consistent immunological abnormalities in NS. Up to 75% of patients develop other atopic manifestations. 
A pathognomonic feature of NS is the hair shaft defect known as TI or a ball and socket defect.  Hair sampling may have to be repeated several times, as only 20-50% of hairs may be affected. Clipped hair, especially eyebrows, may be most informative. Pili torti and trichorrhexis nodosa are also seen rarely. , In our patient, trichorrhexis nodosa was found on light microscopy.
Skin biopsy specimens are generally nonspecific and noncontributory in the diagnosis of NS. Histopathology often reveals psoriasiform dermatitis. Histopathology in our case was characteristic of psoriasis. Munro's microabscess in biopsy specimens was reported in NS only recently.  Ultrastructural features can differentiate NS from erythrodermic psoriasis. Premature lamellar body secretion and foci of electron dense material in the intercellular spaces of stratum corneum are seen in NS and are relatively a specific marker for NS. 
Various modalities have been tried in NS. Therapy includes emollients, keratolytics, topical steroids, etretinate, PUVA, topical tacrolimus, and pimecrolimus 1% with moderate and temporary effects. Systemic drugs like methotrexate and cyclosporine have been found ineffective. 
In the case described here, NS was characterized by infantile erythroderma, trichorrhexis nodosa, raised serum IgE levels, recurrent infections, and peripheral eosinophilia. NS may be confused with psoriasis due to its overlapping features both clinically and histopathologically. Electron microscopic studies can differentiate NS from other causes of erythroderma. This investigation was not done in our case, but all other clinical features were consistent with NS. NS may be common, but often it is missed, and thus underreported. High index of suspicion must be present for diagnosis. NS should be on top of the differential diagnosis in a newborn child presenting with erythroderma, symptoms of atopy, and abnormal looking scalp hair.
| References|| |
|1.||Greene SL, Muller SA. Netherton syndrome. Report of a case and review of the literature. J Am Acad Dermatol 1985;13:329-37. |
|2.||Sun JD, Linden KG. Netherton syndrome: A case report and review of the literature. Int J Dermatol 2006;45:693-7. |
|3.||Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000;66:914-21. |
|4.||Pruszkowski A, Bodemer C, Fraitag S, Teillac-Hamel D, Amoric JC, de Prost Y. Neonatal and infantile erythroderma: A retrospective study of 51 patients. Arch dermatol 2000;136:875-80. |
|5.||Smith DL, Smith JG, Wong SW, deShazo RD. Netherton syndrome: A syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995;95:116-23. |
|6.||Burk C, Hu S, Lee C, Connelly EA. Netherton syndrome and trichorrhexis invaginata-a novel diagnostic approach. Pediatr Dermatol 2008;25:287-8. |
|7.||Hausser I, Anton-Lamprecht I. Severe congenital generalized exfoliativa erythroderma in newborn and infants: A possible sign of Netherton syndrome. Pediatr Dermatol 1996;13:183-99. |
|8.||Dawber RP. An update of hair shaft disorders. Dermatol Clin 1996;14:753-72. |
|9.||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 1999;135:823-32. |
|10.||Braun RP, Ramlet AA. Failure of cyclosporine in Netherton's syndrome. Dermatology 1997;195:75. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]