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Netherton syndrome(NETH)

MedGen UID:
78578
Concept ID:
C0265962
Congenital Abnormality
Synonyms: COMEL-NETHERTON SYNDROME; ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE; Ichthyosis linearis circumflexa; NETH; Netherton disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Netherton's syndrome (312514006); Comel-Netherton syndrome (312514006); Axial osteosclerosis with bamboo hair (312514006); Netherton syndrome (312514006); Lamellar ichthyosis AND trichorrhexis invaginata syndrome (34638006); Netherton's disease (34638006); Ichthyosis linearis circumflexa (54336006)
 
Gene (location): SPINK5 (5q32)
OMIM®: 256500
Orphanet: ORPHA634

Definition

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.
[from GHR]

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the kidney.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
400900
Concept ID:
C1866030
Finding
Dry skin
MedGen UID:
368099
Concept ID:
C1963094
Finding
Urticaria
MedGen UID:
776575
Concept ID:
C2186740
Finding
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Acanthosis nigricans
MedGen UID:
504659
Concept ID:
CN000895
Finding
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Skin rash
MedGen UID:
504676
Concept ID:
CN000925
Finding
A red eruption of the skin.
Erythroderma
MedGen UID:
504688
Concept ID:
CN000955
Finding
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Brittle hair
MedGen UID:
505186
Concept ID:
CN002087
Finding
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Angioedema
MedGen UID:
506513
Concept ID:
CN117557
Finding
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
Abnormal hair quantity
MedGen UID:
489172
Concept ID:
CN167090
Finding
An abnormal amount of hair.
Urticaria
MedGen UID:
776575
Concept ID:
C2186740
Finding
Angioedema
MedGen UID:
506513
Concept ID:
CN117557
Finding
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Hypernatremic dehydration
MedGen UID:
340564
Concept ID:
C1850544
Finding
Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.
Dehydration
MedGen UID:
776589
Concept ID:
C2712335
Finding
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Angioedema
MedGen UID:
506513
Concept ID:
CN117557
Finding
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Emphysema
MedGen UID:
425087
Concept ID:
CN001898
Finding
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Abnormality of the musculature
MedGen UID:
425119
Concept ID:
CN002722
Finding
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNetherton syndrome

Recent clinical studies

Etiology

Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H
J Dermatol Sci 2013 Oct;72(1):54-60. Epub 2013 Jun 1 doi: 10.1016/j.jdermsci.2013.05.004. [Epub ahead of print] PMID: 23810772
van der Voort EA, Prens EP
Acta Derm Venereol 2013 Nov;93(6):727-8. doi: 10.2340/00015555-1558. PMID: 23571873
Craiglow BG
Semin Perinatol 2013 Feb;37(1):26-31. doi: 10.1053/j.semperi.2012.11.001. PMID: 23419760Free PMC Article
Li AL, Walsh S, McKay DR
J Plast Reconstr Aesthet Surg 2011 Nov;64(11):1533-6. Epub 2011 Apr 3 doi: 10.1016/j.bjps.2011.03.013. [Epub ahead of print] PMID: 21463975
Yan AC, Honig PJ, Ming ME, Weber J, Shah KN
Arch Dermatol 2010 Jan;146(1):57-62. doi: 10.1001/archdermatol.2009.326. PMID: 20083693

Diagnosis

Meltem Akkurt Z, Tuncel T, Ayhan E, Uçmak D, Uluca U, Uçak H
J Cutan Med Surg 2014 Jul-Aug;18(4):280-2. PMID: 25008447
Israeli S, Sarig O, Garty BZ, Indelman M, Bergman R, Sprecher E, Goldberg I
Dermatology 2014;228(2):183-8. Epub 2014 Feb 27 doi: 10.1159/000357560. [Epub ahead of print] PMID: 24577329
Aydın BK, Baş F, Tamay Z, Kılıç G, Süleyman A, Bundak R, Saka N, Özkaya E, Güler N, Darendeliler F
Pediatr Dermatol 2014 Jan-Feb;31(1):90-4. Epub 2013 Sep 9 doi: 10.1111/pde.12220. [Epub ahead of print] PMID: 24015757
Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H
J Dermatol Sci 2013 Oct;72(1):54-60. Epub 2013 Jun 1 doi: 10.1016/j.jdermsci.2013.05.004. [Epub ahead of print] PMID: 23810772
Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M
Pediatr Dermatol 2013 Jul-Aug;30(4):e65-7. Epub 2013 Jan 17 doi: 10.1111/pde.12076. [Epub ahead of print] PMID: 23331056

Therapy

Aydın BK, Baş F, Tamay Z, Kılıç G, Süleyman A, Bundak R, Saka N, Özkaya E, Güler N, Darendeliler F
Pediatr Dermatol 2014 Jan-Feb;31(1):90-4. Epub 2013 Sep 9 doi: 10.1111/pde.12220. [Epub ahead of print] PMID: 24015757
Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Chan L, Martinez-Queipo M, Hara H, McNicol AM, Farzaneh F, McGrath J, Thrasher A, Qasim W
Hum Gene Ther Clin Dev 2013 Dec;24(4):182-90. doi: 10.1089/humc.2013.195. PMID: 24329107
Maatouk I, Moutran R, Tomb R
Clin Exp Dermatol 2012 Jun;37(4):364-6. doi: 10.1111/j.1365-2230.2011.04231.x. PMID: 22582910
Yan AC, Honig PJ, Ming ME, Weber J, Shah KN
Arch Dermatol 2010 Jan;146(1):57-62. doi: 10.1001/archdermatol.2009.326. PMID: 20083693
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD
J Allergy Clin Immunol 2009 Sep;124(3):536-43. Epub 2009 Aug 14 doi: 10.1016/j.jaci.2009.06.009. [Epub ahead of print] PMID: 19683336Free PMC Article

Prognosis

Israeli S, Sarig O, Garty BZ, Indelman M, Bergman R, Sprecher E, Goldberg I
Dermatology 2014;228(2):183-8. Epub 2014 Feb 27 doi: 10.1159/000357560. [Epub ahead of print] PMID: 24577329
D'Alessio M, Fortugno P, Zambruno G, Hovnanian A
G Ital Dermatol Venereol 2013 Feb;148(1):37-51. PMID: 23407075
Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M
Pediatr Dermatol 2013 Jul-Aug;30(4):e65-7. Epub 2013 Jan 17 doi: 10.1111/pde.12076. [Epub ahead of print] PMID: 23331056
Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D
J Hum Genet 2012 May;57(5):311-5. Epub 2012 Mar 1 doi: 10.1038/jhg.2012.22. [Epub ahead of print] PMID: 22377713
Yan AC, Honig PJ, Ming ME, Weber J, Shah KN
Arch Dermatol 2010 Jan;146(1):57-62. doi: 10.1001/archdermatol.2009.326. PMID: 20083693

Clinical prediction guides

Israeli S, Sarig O, Garty BZ, Indelman M, Bergman R, Sprecher E, Goldberg I
Dermatology 2014;228(2):183-8. Epub 2014 Feb 27 doi: 10.1159/000357560. [Epub ahead of print] PMID: 24577329
van Smeden J, Janssens M, Boiten WA, van Drongelen V, Furio L, Vreeken RJ, Hovnanian A, Bouwstra JA
J Invest Dermatol 2014 May;134(5):1238-45. Epub 2013 Nov 29 doi: 10.1038/jid.2013.517. [Epub ahead of print] PMID: 24292773
Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D
J Hum Genet 2012 May;57(5):311-5. Epub 2012 Mar 1 doi: 10.1038/jhg.2012.22. [Epub ahead of print] PMID: 22377713
Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A
J Clin Invest 2010 Mar;120(3):871-82. Epub 2010 Feb 22 doi: 10.1172/JCI41440. [Epub ahead of print] PMID: 20179351Free PMC Article
Yan AC, Honig PJ, Ming ME, Weber J, Shah KN
Arch Dermatol 2010 Jan;146(1):57-62. doi: 10.1001/archdermatol.2009.326. PMID: 20083693

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