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GJB2-sEDD-KID

Previously: Keratitis-ichthyosis-deafness (KID) syndrome

sEDD Gene: GJB2 AD
Onset: Birth or shortly after
Pathway: Channels
Category Paper: sEDD Paper
GJB2-sEDD-KID: 15-year-old boy with alopecia, as well as widespread erythema and thick scaling plaques, accentuated at flexural areas.

GJB2-sEDD-KID: 15-year-old boy with alopecia, as well as widespread erythema and thick scaling plaques, accentuated at flexural areas.

Key Clinical Clues

Thickened erythematous skin and mild-to-severe PPK; variable morphology: stippled, spiny follicular-based, cobblestone, vegetative.

Additional Cutaneous Features

Scrotal tongue, oral leucoplakia; recurrent bacterial and fungal infections; hypohidrosis, nail dystrophy, hypotrichosis; some with papillomas/SCC; rare cystic pilar tumours or hidradenitis-like acneiform eruption.

Additional Extracutaneous Features

Sensorineural deafness; often vascularizing keratitis with photophobia, corneal ulceration and blindness, elbow and knee contractures; Arnold-Chiari brain malformations.

Treatment

Emerging: ASO targeting hemichannel, anti-hemichannel mAbs, hemichannel inhibitors (Mammano, 2025; Law, 2006; Peres, 2023).

References

Mammano F, Paller AS, White TW. Connexin hemichannel inhibition and human genodermatoses. J Invest Dermatol 2025; 145:790-9.

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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