# Ictiose congênita autossômica recessiva

> Página oficial: https://raras.org/doenca/ictiose-congenita-autossomica-recessiva
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 281097 — https://www.orpha.net/en/disease/detail/281097
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Forma autossômica recessiva de ictiose hereditária.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (94 fenótipos HPO)

- **Anormalidade do cabelo** — HPO: HP:0001595
- **Sensação de temperatura prejudicada** — HPO: HP:0010829
- **Hiperceratose epidermolítica localizada** — HPO: HP:0007559
- **Edema do dorso das mãos** — HPO: HP:0007514
- **Edema do dorso dos pés** — HPO: HP:0012098
- **Autoamputação dos dedos** — HPO: HP:0007460
- **Erosão corneana** — HPO: HP:0200020
- **Deficiência auditiva** — HPO: HP:0000365
- **Baixa estatura** — HPO: HP:0004322
- **Ceratite** — HPO: HP:0000491
- **Pele espessada** — HPO: HP:0001072
- **Múltiplas contraturas articulares** — HPO: HP:0002828
- **Ausência de elasticidade da pele** — HPO: HP:0100679
- **Pele palmoplantar descamativa** — HPO: HP:0025524
- **Onicomicose** — HPO: HP:0012203
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Liquenificação** — HPO: HP:0100725
- **Intolerância ao calor** — HPO: HP:0002046
- **Leuconíquia** — HPO: HP:0001820
- **Paraplegia espástica** — HPO: HP:0001258
- **Baqueteamento digital** — HPO: HP:0001217
- **Déficit de crescimento** — HPO: HP:0001508
- **Atraso motor** — HPO: HP:0001270
- **Rigidez** — HPO: HP:0002063
- **Acantocitose** — HPO: HP:0001927
- **Proptose** — HPO: HP:0000520
- **Anormalidade auditiva** — HPO: HP:0000364
- **Pele seca** — HPO: HP:0000958
- **Incisivo primário cônico** — HPO: HP:0011082
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Pele com descamação branca** — HPO: HP:0040190
- **Eritrodermia ictiosiforme bolhosa congênita** — HPO: HP:0007475
- **Nascimento prematuro** — HPO: HP:0001622
- **Displasia ungueal** — HPO: HP:0002164
- **Vermelhão do lábio inferior evertido** — HPO: HP:0000232
- **Alopecia** — HPO: HP:0001596
- **Unha pequena** — HPO: HP:0001792
- **Paraqueratose** — HPO: HP:0001036
- **Descamação da pele logo após o nascimento** — HPO: HP:0007549
- **Contratura em flexão** — HPO: HP:0001371
- _...e mais 54 sintomas. Ver https://raras.org/doenca/ictiose-congenita-autossomica-recessiva._

## Genes associados (16)

- **ALOXE3** — Hydroperoxide isomerase ALOXE3 [Disease-causing germline mutation(s) in]
  - Função: Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:
- **PNPLA1** — Omega-hydroxyceramide transacylase [Disease-causing germline mutation(s) in]
  - Função: Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier f
- **KRT2** — Keratin, type II cytoskeletal 2 epidermal [Disease-causing germline mutation(s) in]
  - Função: Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Required for maintenance of corneocytes an
- **CYP4F22** — Ultra-long-chain fatty acid omega-hydroxylase [Disease-causing germline mutation(s) in]
  - Função: A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesi
- **CASP14** — Caspase-14 [Disease-causing germline mutation(s) in]
  - Função: Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is requ
- **ST14** — Suppressor of tumorigenicity 14 protein [Disease-causing germline mutation(s) in]
  - Função: Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prosta
- **TGM1** — Protein-glutamine gamma-glutamyltransferase K [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (PubMed:7629111, PubMed:8824274, PubMed:26220141, PubMed:20663883). Responsible for cross-linking epidermal protei
- **SERPINB8** — Serpin B8 [Disease-causing germline mutation(s) in]
  - Função: Has an important role in epithelial desmosome-mediated cell-cell adhesion
- **SDR9C7** — Short-chain dehydrogenase/reductase family 9C member 7 [Disease-causing germline mutation(s) in]
  - Função: Plays a crucial role in the formation of the epidermal permeability barrier (PubMed:31671075). Catalyzes the NAD+-dependent dehydrogenation of the linoleate 9,10-trans-epoxy-11E-13-alcohol esterified
- **CSTA** — Cystatin-A [Disease-causing germline mutation(s) in]
  - Função: This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis
- **LIPN** — Lipase member N [Disease-causing germline mutation(s) in]
  - Função: Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features
- **NIPAL4** — Magnesium transporter NIPA4 [Disease-causing germline mutation(s) in]
  - Função: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxili
- **CERS3** — Ceramide synthase 3 [Disease-causing germline mutation(s) in]
  - Função: Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22
- **SULT2B1** — Sulfotransferase 2B1 [Disease-causing germline mutation(s) in]
  - Função: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589
- **ABCA12** — Glucosylceramide transporter ABCA12 [Disease-causing germline mutation(s) in]
  - Função: Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the tr

## Ensaios clínicos ativos (5)

- **NCT05312073** [COMPLETED]: Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis — https://clinicaltrials.gov/study/NCT05312073
- **NCT05735158** [UNKNOWN]: Topical KB105 for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) — https://clinicaltrials.gov/study/NCT05735158
- **NCT04047732** [UNKNOWN]: Topical KB105 Gene Therapy for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) — https://clinicaltrials.gov/study/NCT04047732
- **NCT03041038** [COMPLETED]: The Efficacy and Safety of Secukinumab in Patients With Ichthyoses — https://clinicaltrials.gov/study/NCT03041038
- **NCT04996485** [UNKNOWN]: Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children — https://clinicaltrials.gov/study/NCT04996485

## Centros de referência no Brasil (24)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital Infantil Albert Sabin (Fortaleza/CE)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital Universitário da UFJF (Juiz de Fora/MG)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital Pequeno Príncipe (Curitiba/PR)
- Hospital Universitário Regional de Maringá (HUM) (Maringá/PR)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)

## Doenças relacionadas (por similaridade fenotípica)

- [Ictiose lamelar](https://raras.org/doenca/ictiose-lamelar) — ORPHA:313 — 50 sintomas em comum
- [Eritrodermia ictiosiforme congênita](https://raras.org/doenca/eritrodermia-ictiosiforme-congenita) — ORPHA:79394 — 39 sintomas em comum
- [Síndrome Netherton](https://raras.org/doenca/sindrome-netherton) — ORPHA:634 — 32 sintomas em comum
- [Eritroceratodermia](https://raras.org/doenca/eritroceratodermia) — ORPHA:79355 — 29 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 26 sintomas em comum
- [Bebê colódio com regressão espontânea](https://raras.org/doenca/bebe-colodio-com-regressao-espontanea) — ORPHA:281122 — 26 sintomas em comum
- [Síndrome ictiose folicular-alopecia-fotofobia](https://raras.org/doenca/sindrome-ictiose-folicular-alopecia-fotofobia) — ORPHA:2273 — 26 sintomas em comum
- [Ictiose queratinopática](https://raras.org/doenca/ictiose-queratinopatica) — ORPHA:281103 — 25 sintomas em comum
- [Ictiose Harlequim](https://raras.org/doenca/ictiose-harlequim) — ORPHA:457 — 25 sintomas em comum
- [Eritroceratodermia variável tipo Mendes da Costa](https://raras.org/doenca/eritroceratodermia-variavel-tipo-mendes-da-costa) — ORPHA:317 — 23 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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