Netherton Syndrome (NETH)

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Disease Ontology 12 DOID:0050474 OMIM® 57 256500 KEGG 36 H00671 MeSH 44 D056770 NCIt 50 C84922 SNOMED-CT 67 312514006

ICD10 via Orphanet 33 Q80.8 UMLS via Orphanet 71 C0265962 Orphanet 58 ORPHA634 MedGen 41 C0265962 SNOMED-CT via HPO 68 112625008 119250001 123785006 126485001 128613002 16386004 16507009 190981001 195967001 200766001 200948000 205550003 22486004 224958001 228156007 237836003 238736006 246545002 247472004 247546006 247578003 25159003 258211005 267372009 268245001 271807003 275403002 281104002 313307000 34095006 35912001 36440009 396349005 396350005 399992009 400005007 400075008 402599005 41291007 427784006 43064006 43116000 432788009 61582004 64305001 65068000 72129000 75581001 84757009 87433001 91138005 91175000 991000119106 more UMLS 70 C0265962 C2936859

MedlinePlus Genetics : ⁴³ Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved.Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature.People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. 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.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 based summary : Netherton Syndrome, also known as comel-netherton syndrome, is related to ichthyosis and dermatitis, atopic, and has symptoms including trichorrhexis invaginata An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor Kazal Type 5), and among its related pathways/superpathways are Developmental Biology and Collagen chain trimerization. The drugs Adalimumab and Pimecrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related phenotypes are malabsorption and irregular hyperpigmentation

Disease Ontology : ¹² A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has material basis in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.

GARD : ²⁰ Netherton disease is a rare disorder affecting the skin, hair and immune system. Symptoms are present at birth and include red, scaly skin. Other symptoms include outbreaks of red, circular scaly rashes, thin, fragile hair (bamboo hair), and immune reactions such as hay fever, asthma, itchy skin, and eczema. Dehydration and infection are common and can be serious. Babies tend to grow slowly and have poor weight gain. Netherton syndrome is caused by the SPINK5 gene not working correctly. It is inherited in an autosomal recessive pattern. Netherton syndrome is diagnosed based on clinical examination, the symptoms, and genetic testing. Treatment is focused on managing the symptoms.

OMIM® : ⁵⁷ Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002). (256500) (Updated 20-May-2021)

KEGG : ³⁶ Netherton syndrome is a rare autosomal recessive genodermatosis consisting of erythroderma, ichthyosis linearis circumflexa, and hair shaft abnormalities with a bamboo shoot appearance (trichorrhexis invaginata). Atopic diathesis is commonly associated with the condition.

UniProtKB/Swiss-Prot : ⁷² Netherton syndrome: An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.

Wikipedia : ⁷³ Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Clinical features from OMIM®:

256500 (Updated 20-May-2021)

Search NIH Clinical Center for Netherton Syndrome

Search GEO for disease gene expression data for Netherton Syndrome.