AP1B1-sEDD-KID

Previously: Keratitis-ichthyosis-deafness (KID) syndrome, autosomal recessive (KIDAR)

sEDD Gene: AP1B1 AR

Onset: Birth or first weeks of life

Pathway: Membrane sorting/vesicular trafficking

Category Paper: sEDD Paper

AP1B1-sEDD: 28-year-old woman with generalized erythroderma and fine scaling on the shoulder and proximal arm with accentuation at the axillary vault border.

Key Clinical Clues

Sensorineural deafness; spiny follicular-based hyperkeratosis.

Additional Cutaneous Features

Irregular erythematous plaques with fine scaling and desquamation, including face; PPK; variable alopecia; nail dystrophy; anhidrosis.

Additional Extracutaneous Features

Highly variable: intellectual/psychomotor developmental delay and growth delay; photophobia, corneal opacity; episodic thrombocytopenia; enteropathy; sensorineural deafness, neuropathy.

References

Faghihi F, Khamirani HJ, Zoghi S et al. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet 2022; 65:104449. || Vasconcelos AP, Nogueira A, Matos P et al. Severe KIDAR syndrome caused by deletion in the AP1B1 gene: report of a teenage patient and systematic review of the literature. Eur J Med Genet 2023; 66:104827.

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