We are reporting a case of NS presenting as recurrent erythroderma. [ijhas.in]

Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. [ncbi.nlm.nih.gov]

Bilateral ectropion was present Figure 3: Some pustular lesion and ulceration on sole were present. (Figure 3). Some pustular lesion and ulceration on sole were present. [drikram.com]

• Recurrent Infection

  Infants with more severe NS symptoms are associated with failure to thrive, hypernatremic dehydration secondary to excess fluid loss, delayed growth, short stature, and recurrent infections. [krystalbio.com]

  Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. [ncbi.nlm.nih.gov]

• Delayed Growth and Development

  Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. [ncbi.nlm.nih.gov]

  Other clinical findings are delayed growth and development, short stature, and, rarely, intermittent aminoaciduria. Intellectual deficit has been associated in some cases. [orpha.net]

• Eczema

  Most will have a greater likelihood of developing hay fever, asthma and atopic eczema. Patients have high levels of IgE (allergy antibody) in their blood and may suffer attacks of angioedema (severe allergic skin reaction) and urticaria. [dermnetnz.org]

  Migratory polycyclic lesions with facial eczema since infancy. Indian J Dermatol 2010;55:411-2 How to cite this URL: Monga P, Mehta V, Balachandran C. Migratory polycyclic lesions with facial eczema since infancy. [e-ijd.org]

  Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction that leads to allergies, asthma, and eczema. [medlineplus.gov]

  Another characteristic of Netherton syndrome is a predisposition to allergies, asthma, and eczema. Babies with Netherton syndrome may be born prematurely. Trouble gaining weight in infancy and childhood is common and can be severe. [rarediseases.org]

  Some individuals are allergic to foods such as fish and nuts or are prone to hay fever, asthma and eczema-like rashes. [contact.org.uk]

• Alopecia

  Using these products may result in severe hair loss and cicatricial alopecia (scarring alopecia). This form of hair loss scars your hair follicles and makes future hair growth less likely. [healthline.com]

  55% of them presenting also eye brows and lashes alopecia; eight out of nine patients with the disease had consanguineal parents; and only one third had relatives with history of atopy. [scielo.br]

  Associated are hair shaft abnormalities, in particular “bamboo hair” also known as “trichorrhexis invaginata”, which may lead to diffuse alopecia of the scalp and loss of eyebrows and eyelashes. [genedx.com]

  […] that are bordered by a double edged scale and coined by Comèl as ichthyosis linearis circumflexa. [1] The hallmark of Netherton's syndrome (NS) is trichorrhexis invaginata, described by Netherton, [1] with pili torti, trichorrhexis nodosa, and diffuse alopecia [ijpd.in]

  Scalp and eyebrows hairs were sparse, rough, brittle, and lusterless with traumatic alopecia on scalp. There was no nail or mucosal involvement. On investigation, complete hemogram, liver, and kidney function tests were normal. [ijdd.in]

• Intracranial Hemorrhage

  The major neonatal complication is the hypernatremic dehydration, which can be fatal as in this patient or complicated by neurologic signs (intracranial hemorrhage) and secondary sequellae. [ncbi.nlm.nih.gov]

A diagnostic workup could not reveal any common known cause of pancreatitis, and the cause of pancreatitis would most likely be considered idiopathic. [ncbi.nlm.nih.gov]

Complete hematologic workup showed moderate anemia at 8.0 g/dL (reference range, 8.0–10.9 g/dL) and peripheral eosinophilia at 12% (reference range, 0%–6%). [mdedge.com]

Laboratory investigations showed normal blood workup, but with an elevation in IgE levels. Examination of hair under light microscopy showed bulging with ball-and-cup formation typical for trichorrhexis invaginata or bamboo hair (Figures 4 and 5). [medscape.com]

What is the treatment for Netherton syndrome? There is no specific treatment for Netherton syndrome. The goals of treatment are to manage the symptoms and prevent skin infections and other complications. [dermnetnz.org]

Successful treatment of Netherton’s syndrome with topical calcipotriol. Eur J Dermatol. 2004:14:115-7. Sprecher, E, et al. [rarediseases.org]

Management and treatment Treatment is symptomatic and requires prompt management of the neonatal complications and long-term use of emollients for treatment of the skin disorder. [orpha.net]

(May 2017) Treatment[edit] There is no known cure at the moment but there are several things that can be done to relieve the symptoms. [en.wikipedia.org]

The classic treatment consists of emollients, keratolytics and antibiotics, while other forms of treatment are usually not effective. [termedia.pl]

Prognosis The prognosis may be severe in neonates with life-threatening complications and postnatal lethality is high. [orpha.net]

Abstract Deficiency in the serine protease inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the stratum corneum and chronic inflammation. [ncbi.nlm.nih.gov]

Etiology NS is caused by mutations in the SPINK5 gene (5q31-q32) encoding the serine protease inhibitor LEKTI. [orpha.net]

Summary Epidemiology Incidence is estimated at 1/200,000 births. Clinical description Patients generally present at birth with generalized erythroderma and scaling, and failure to thrive. [orpha.net]

This suggests that IL-33 may be involved in the pathophysiology of NS as well as in atopic dermatitis. [ncbi.nlm.nih.gov]

However, based on recent reports regarding various pathophysiological mechanisms for both acute pancreatitis and the Netherton syndrome (eg, shearing the 5q locus for the respective gene-associated defects in SPINK1 and SPINK5), we speculate if a possible [unboundmedicine.com]

Further understanding of the underlying pathophysiology of integumentary changes will lead to more effective treatment. [cureus.com]

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92. Richard G. [ghr.nlm.nih.gov]

Ablation of matriptase from LEKTI-deficient mice dampened inflammation, eliminated aberrant protease activity, prevented detachment of the stratum corneum, and improved the barrier function of the epidermis. [ncbi.nlm.nih.gov]

The goals of treatment are to manage the symptoms and prevent skin infections and other complications. [dermnetnz.org]