Dermatology, Bangalore Medical College and Research Institute, Bengaluru - 560 002, Karnataka India Source of Support: None, Conflict of Interest: None DOI: 10.4103/2319-7250.184332 The syndrome is characterized by the association of two classical clinical presentations [ijpd.in]

Personal history of atopic like eczema, allergic rhinitis, and recurrent urticaria was present. [idoj.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]

• 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]

• Fever

  Netherton syndrome (NS) is a rare autosomal recessive skin disease with severe skin inflammation and scaling, a specific hair shaft defect (trichorrhexis invaginata or bamboo hair), and severe atopic manifestations including atopic dermatitis and hay fever [ncbi.nlm.nih.gov]

  Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema. [malacards.org]

  Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma). Symptoms may be mild or severe and tend to present in infancy. [globalgenes.org]

  African swine fever Developments in veterinary virology. African swine fever [semanticscholar.org]

  Children with severe Netherton Syndrome often also feature deficiencies of the immune system, severe infections, fever, failure to thrive, growth retardation and allergies. [campus.uni-muenster.de]

• Underweight

  For infants with less severe symptoms, many will suffer from a failure to thrive in the first year of life and by the second year of life although the health of most children will start to improve, most will remain underweight and of short stature. [dermnetnz.org]

  Symptoms often improve with increased age, but most children remain underweight and short in stature. Atopic symptoms may include eczema, dermatitis, hay fever, pruritus, angioedema, urticarial, hyper immunoglobulin E levels, and eosinophilia. [preventiongenetics.com]

  The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature. [malacards.org]

• Falling

  His hair fall was significant at admission ( Fig. 1 ). The typical characteristic of bamboo hair was determined ( Fig. 2 ). [ncbi.nlm.nih.gov]

  His hair fall was significant at admission (Fig. 1). The typical characteristic of bamboo hair was determined (Fig. 2). [ijp.tums.pub]

  The bars indicate the reference values for each age group and the circles indicate the mean of NS patients falling in the indicated age group. [ojrd.biomedcentral.com]

  England 289-5 (Pietersen c Karthik b Santh 101) Pietersen tucks Santh off his hip for four to reach another brilliant century, his 10th in 30 Tests - a ratio so good that Andrew Cole could write a song about it - but then he falls. [theguardian.com]

• Hodgkin Lymphoma

  People with the acquired form often have other conditions, such as: Underactive thyroid gland Kidney disease Sarcoidosis, a rare disease that causes patches of inflammation inside the body Cancer such as Hodgkin lymphoma HIV infection Some medicines might [webmd.com]

  It's usually associated with another condition, such as: an underactive thyroid kidney disease sarcoidosis – a rare condition that causes small patches of red swollen tissue to develop in the body's organs Hodgkin lymphoma – a rare type of cancer HIV [nhs.uk]

• Hypotension

  […] fermentation preparations, coating compounds sk Obrázok # – Schéma brúsneho prístroja en The most common side effects with Ventavis (seen in more than # patient in #) are vasodilation (blood vessels becoming wider causing flushing or reddening of the face), hypotension [sk.glosbe.com]

• Eczema

  Personal history of atopic like eczema, allergic rhinitis, and recurrent urticaria was present. [idoj.in]

  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]

  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]

  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]

• Angioedema

  Hair shaft abnormalities manifested as trichorrhexis invaginata, pili torti and/or trichorrhexis nodosa. [4] This may not be detectable at birth, and may disappear with age. [5] Atopy is usually manifested as atopic dermatitis-like skin lesions, angioedema [idoj.in]

  […] common as nonbullous ichthysosiform erythroderma this condition presents with congenital erythroderma, and later a recurrent migrating scaling this condition has a distinctive hair shaft defect and results in fragile, sparse hair; also food-induced angioedema [gpnotebook.com]

  The large majority of NS patients develop atopic manifestations including asthma, atopic dermatitis, food allergies, urticaria, angioedema, and elevated IgE levels. [orpha.net]

• Brittle Hair

  food allergy, asthma, eczema) Patients have dry and brittle hair that break easily. [immunodeficiencysearch.com]

  The patient was presented to our clinic with sparse and brittle hair along with pruritic, erythematous and scaling cutaneous lesions. The patient underwent a clinical examination and laboratory analyzes. [ncbi.nlm.nih.gov]

  Hair anomalies usually become apparent after infancy, with sparse and brittle hair caused by TI (bamboo hair viewed by light microscopy) and other hair shaft anomalies (pili torti and/or trichorrhexis nodosa). [orpha.net]

  Congenital disorder that involves production of abnormal bamboo (brittle) hair (diagnostic marker) and associated with onychodystrophy, cataracts, mental retardation, skin sensitivity to light, and ichthyosis. [accessanesthesiology.mhmedical.com]

• Sparse Hair

  Scalp examination showed few scales with sparse hair growth with the boy having more sparsity. Hair was not easily breakable and texture was unchanged. Teeth and nails were normal. [ijpd.in]

  […] shaft defect and results in fragile, sparse hair; also food-induced angioedema occurs characteristically the infant presents with failure to thrive; however this condition still may diagnosed late in many cases other common features of the disease are [gpnotebook.com]

  The symptoms of bamboo hair can include: hair that breaks easily hair strands that have a knotty appearance a loss of eyelashes a loss of eyebrows sparse hair growth or hair loss pattern dry hair hair that’s lackluster spiky hair short hair due to consistent [healthline.com]

  In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair. [malacards.org]

  Hair shafts are fragile and break easily due to trichorrhexis or “bamboo hair”, resulting in short sparse hair. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). [rarediseases.org]

• Sparse Hair

  Scalp examination showed few scales with sparse hair growth with the boy having more sparsity. Hair was not easily breakable and texture was unchanged. Teeth and nails were normal. [ijpd.in]

  […] shaft defect and results in fragile, sparse hair; also food-induced angioedema occurs characteristically the infant presents with failure to thrive; however this condition still may diagnosed late in many cases other common features of the disease are [gpnotebook.com]

  The symptoms of bamboo hair can include: hair that breaks easily hair strands that have a knotty appearance a loss of eyelashes a loss of eyebrows sparse hair growth or hair loss pattern dry hair hair that’s lackluster spiky hair short hair due to consistent [healthline.com]

  In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair. [malacards.org]

  Hair shafts are fragile and break easily due to trichorrhexis or “bamboo hair”, resulting in short sparse hair. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). [rarediseases.org]

• Seizure

  Varying degrees of hypernatremia have been described, including cases resulting in seizure activity. What is the Evidence? Chavanas, S, Garner, C, Bodemer, C. [dermatologyadvisor.com]

  Seizure 0001250 5%-29% of people have these symptoms Aminoaciduria High urine amino acid levels Increased levels of animo acids in urine [ more ] 0003355 Dehydration 0001944 Dry skin 0000958 Ectopic kidney Abnormal kidney location Displaced kidney [ [rarediseases.info.nih.gov]

• Asthenia

  […] dilgėlinė, egzantema English Vomiting, nausea, constipation Diarrhoea, abdominal pain, dyspepsia Last Update: 2012-04-11 Usage Frequency: 2 Quality: Lithuanian Brimas, niezulys, alopecija Daugiaform eritema, eritrodermija, dilglin, egzantema English Fever, asthenia [mymemory.translated.net]

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]

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]

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]

Patients may benefit from evaluation and treatment of their allergic symptoms and topical skin treatment with ammonium lactate. [scienceopen.com]

The thinness of the barrier also results in over absorption of chemicals, for example topical medical treatments. Historically one in ten infants dies before their first birthday. Currently there are no proven treatments to cure this condition. [clinicaltrials.gov]

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

The severity increased in rainy and cold weathers with remission during summer and on treatment. The erythema reduced significantly by the age of 3 years in both. [ijpd.in]

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]

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]

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]

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]

Since the condition is a direct result of a gene mutation, there’s no current, known way to prevent the condition. But there are many types of lotions and ointments you can use to treat bamboo hair. [healthline.com]