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]

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]

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]

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]

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]

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]

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]

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]

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

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]

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]