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SPINK5-sEDD

Previously: Netherton syndrome

sEDD Gene: SPINK5 AR
Onset: Birth
Pathway: Enzymes
Category Paper: sEDD Paper
SPINK5-sEDD: Well-demarcated small pink plaques grouped in serpiginous configurations with distinctive scaling borders [ichthyosis linearis circumflexa (ILC)] in SPINK5-sEDD (ILC clinical subtype).

Well-demarcated small pink plaques grouped in serpiginous configurations with distinctive scaling borders [ichthyosis linearis circumflexa (ILC)] in SPINK5-sEDD (ILC clinical subtype).

Key Clinical Clues

Erythroderma to ichthyosis linearis circumflexa (ILC); intense pruritus; sparse, brittle, breakable hair (trichorrhexis invaginata).

Additional Cutaneous Features

Most born with erythroderma and exfoliative scaling. With age, many become less erythrodermic. Papillomas (especially men and anogenital region), SCC, and BCC can occur; some harbour HPV.

Additional Extracutaneous Features

Early hypernatraemic dehydration; failure to thrive; GI complications (chronic diarrhoea, malabsorption, eosinophilic oesophagitis); atopy (asthma, allergic rhinitis, conjunctivitis, angioedema); variable immune deficiencies.

Treatment

Current: Biologics (IL-4R, IL-12/23, IL-17A), oral JAKi (Lefferdink, 2023; Luchsinger, 2020; Li, 2023). Emerging: Topical or systemic kallikrein inhibitors (Liddle, 2021), topical LEKTI protein, gene correction.

References

Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002; 118:352-61.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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