{
  "abstract": "We report a female in her early childhood with autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analysis revealed a novel homozygous pathogenic variant in the AP1B1 gene. Initiation of acitretin therapy led to significant dermatologic improvement without adverse effects so far. This case underscores the rarity of autosomal recessive KID syndrome and highlights acitretin’s potential as a therapeutic option.",
  "authors": [
    {
      "affiliations": [
        "Dermatology and Venereology, Unidade Local de Saúde de Coimbra, Coimbra, Portugal"
      ],
      "name": "David G Caetano"
    },
    {
      "affiliations": [
        "Dermatology and Venereology, Unidade Local de Saúde de Coimbra, Coimbra, Portugal"
      ],
      "name": "Francisco Martins"
    },
    {
      "affiliations": [
        "Dermatology and Venereology, Unidade Local de Saúde de Coimbra, Coimbra, Portugal"
      ],
      "name": "João Soares"
    },
    {
      "affiliations": [
        "Dermatology and Venereology, Unidade Local de Saúde de Coimbra, Coimbra, Portugal"
      ],
      "name": "Leonor C Ramos"
    }
  ],
  "title": "Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin",
  "uid": "68ec7b7c-f141-5fd7-a03a-e90a5232cea7"
}