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

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

• Recurrent Infection

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

  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]

• Turkish

  In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition. [ncbi.nlm.nih.gov]

  Wikipedia Angelman syndrome Angelman Sendromu Mehmet Ergun Japanese to English Katalin's Medical JE どうふぜんしょうこうぐん sick sinus syndrome (SSS) Katalin Horváth McClure English to Turkish Wikipedia Stiff person syndrome Katı kişi sendromu Mehmet Ergun English [proz.com]

  New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Clin. Exp. Dermatol. 36, 412–415 (2011). 10 Alpigiani, M. G., Salvati, P., Schiaffino, M. C., Occella, C., Castiglia, D., Covaciu, C. et al. [nature.com]

• Chronic Diarrhea

  We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualize typical bamboo and "golf tee" hair and of key importance to diagnose Netherton syndrome. [ncbi.nlm.nih.gov]

  Chronic diarrhea as an enteropathy symptom was revealed. Moreover, in the course of general infection intensifying skin lesions were observed. [content.sciendo.com]

• Liver Dysfunction

  He drank no alcohol, was not diabetic or overweight (body mass index 23 kg/m2) and had no clinical features of liver dysfunction. A FibroScan yielded an elevated result of 9.3 kPa. [ncbi.nlm.nih.gov]

• Eczema

  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]

  Comèl-Netherton syndrome (CN) is characterized by atopic-eczema-like skin abnormalities combined with linear ichthyotic lesions, hair shaft abnormalities and atopy with high IgE levels. Five children with CN are described. [ncbi.nlm.nih.gov]

  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

  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]

  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]

• Desquamating Rash

  De Niear and Joseph Gigante, Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome, The Journal of Pediatrics, 192, (262), (2018). Constantina A. [doi.org]

  1 Image Gallery: Brimonidine gel for facial erythema in Netherton syndrome. ( 29668104 ) Filoni A....Bonamonte D. 2018 2 Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome. ( 29106927 ) De Niear M.A....Gigante J. 2018 3 Novel SPINK5 variants [malacards.org]

• Suggestibility

  This suggests a degree of correlation between cadherin degradation and clinical severity. [ncbi.nlm.nih.gov]

• 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]

• Liver Biopsy

  An ultrasound guided liver biopsy showed histological features consistent with non-alcoholic steatohepatitis, with activity score of 4 and fibrosis stage of 3. The patient was started on vitamin E supplementation and remains under surveillance. [ncbi.nlm.nih.gov]

  Liver biopsy showed severe large-droplet steatosis. The diagnosis was later revised from neutral lipid storage disease (NLSD) when scanning electron microscopy revealed trichorrhexis invaginata. [journals.lww.com]

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]

Patients treated with pimecrolimus responded rapidly, within the first month of treatment, and improvement persisted throughout the study period. [ncbi.nlm.nih.gov]

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]

Because of severe complications frequently occurring in the neonatal period, NS prognosis can be poor in infancy. [ncbi.nlm.nih.gov]

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]

Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]

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]

The 15-domain serine proteinase inhibitor LEKTI: biochemical properties, genomic organization, and pathophysiological role. Eur. J. Med. Res. 7, 49–56 (2002). 32 Magert, H.J. et al. [doi.org]

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

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]

There is no way of preventing or reliably detecting it before birth. There is research in progress to try and identify the causative gene but as there are millions of genes it is a complicated and slow business. Netherton syndrome leaflet [ichthyosis.org.uk]