Congenital ichthyosiform erythroderma, hair shaft defect and atopy.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Genodermatoses
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, neonatal onset
- Gene(s) involved
- SPINK5
- Alternative names & eponyms
- Comel–Netherton syndrome
Etiology & mechanism
Loss of LEKTI protease inhibitor causing kallikrein hyperactivity.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Netherton syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Bare lymphocyte syndrome
failure to thrive, recurrent infections
2 shared
Severe combined immunodeficiency syndrome
failure to thrive, recurrent infections
2 shared
Shwachman–Diamond syndrome
failure to thrive, recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Bartter syndrome
failure to thrive
1 shared
Chediak–Higashi syndrome
recurrent infections
1 shared
Chédiak–Higashi syndrome
recurrent infections
1 shared
Cobalamin C syndrome
failure to thrive
1 shared
Diencephalic syndrome
failure to thrive
1 shared
DiGeorge syndrome
recurrent infections
Shares genes with
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