# Ictiose lamelar

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

## Identificadores

- **ORPHA**: 313 — https://www.orpha.net/en/disease/detail/313
- **CID-10**: Q80.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Ictiose congénita autossómica recessiva rara, caracterizada pela presença de grandes escamas no corpo todo, sem eritrodermia significativa.

## Epidemiologia e herança

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

## Sinais e sintomas (58 fenótipos HPO)

- **Anidrose** — HPO: HP:0000970
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **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
- **Dedo curto** — HPO: HP:0009381
- **Atraso motor** — HPO: HP:0001270
- **Rigidez** — HPO: HP:0002063
- **Pele com descamação branca** — HPO: HP:0040190
- **Paraqueratose** — HPO: HP:0001036
- **Hiperlinearidade palmar** — HPO: HP:0033252
- **Acantocitose** — HPO: HP:0001927
- **Proptose** — HPO: HP:0000520
- **Eritrodermia ictiosiforme não bolhosa congênita** — HPO: HP:0007479
- **Anormalidade auditiva** — HPO: HP:0000364
- **Ceratodermia palmoplantar** — HPO: HP:0000982
- **Ausência de elasticidade da pele** — HPO: HP:0100679 (Muito frequente (99-80%))
- **Otite média crônica** — HPO: HP:0000389 (Ocasional (29-5%))
- **Gangrena** — HPO: HP:0100758 (Ocasional (29-5%))
- **Anormalidade da hélice** — HPO: HP:0011039 (Frequente (79-30%))
- **Eritrodermia** — HPO: HP:0001019 (Muito frequente (99-80%))
- **Ectrópio** — HPO: HP:0000656 (Muito frequente (99-80%))
- **Sepse** — HPO: HP:0100806 (Ocasional (29-5%))
- **Insuficiência renal** — HPO: HP:0000083 (Ocasional (29-5%))
- **Morfologia anormal da unha** — HPO: HP:0001597 (Muito frequente (99-80%))
- **Ictiose** — HPO: HP:0008064 (Muito frequente (99-80%))
- **Pele seca** — HPO: HP:0000958 (Muito frequente (99-80%))
- **Hiperceratose** — HPO: HP:0000962 (Muito frequente (99-80%))
- **Cabelo esparso** — HPO: HP:0008070 (Muito frequente (99-80%))
- **Vermelhão do lábio inferior evertido** — HPO: HP:0000232 (Frequente (79-30%))
- **Baixa estatura** — HPO: HP:0004322 (Ocasional (29-5%))
- **Anormalidade da dentição** — HPO: HP:0000164 (Ocasional (29-5%))
- **Prurido** — HPO: HP:0000989 (Muito frequente (99-80%))
- **Comprometimento cognitivo** — HPO: HP:0100543 (Ocasional (29-5%))
- **Infecções respiratórias recorrentes** — HPO: HP:0002205 (Ocasional (29-5%))
- **Desidratação** — HPO: HP:0001944 (Ocasional (29-5%))
- **Aplasia/Hipoplasia da sobrancelha** — HPO: HP:0100840 (Muito frequente (99-80%))
- **Dorso nasal deprimido** — HPO: HP:0000457
- _...e mais 18 sintomas. Ver https://raras.org/doenca/ictiose-lamelar._

## Genes associados (10)

- **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
- **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
- **ASPRV1** — Retroviral-like aspartic protease 1 [Disease-causing germline mutation(s) in]
  - Função: Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization
- **ALOX12B** — Arachidonate 12-lipoxygenase, 12R-type [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced
- **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
- **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:
- **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
- **SULT2B1** — Sulfotransferase 2B1 [Disease-causing germline mutation(s) (loss of function) 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
- **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
- **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

## Ensaios clínicos ativos (1)

- **NCT07477769** [NOT_YET_RECRUITING]: Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD) — https://clinicaltrials.gov/study/NCT07477769
- **NCT03738800** [TERMINATED]: A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis — https://clinicaltrials.gov/study/NCT03738800
- **NCT00074685** [COMPLETED]: National Registry for Ichthyosis and Related Disorders — https://clinicaltrials.gov/study/NCT00074685
- **NCT03041038** [COMPLETED]: The Efficacy and Safety of Secukinumab in Patients With Ichthyoses — https://clinicaltrials.gov/study/NCT03041038
- **NCT02655861** [TERMINATED]: A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis — https://clinicaltrials.gov/study/NCT02655861
- **NCT00004690** [COMPLETED]: Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis — https://clinicaltrials.gov/study/NCT00004690
- **NCT00282724** [COMPLETED]: Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis — https://clinicaltrials.gov/study/NCT00282724
- **NCT01222000** [UNKNOWN]: Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous — https://clinicaltrials.gov/study/NCT01222000
- **NCT00001292** [COMPLETED]: Study of Scaling Disorders and Other Inherited Skin Diseases — https://clinicaltrials.gov/study/NCT00001292

## Doenças relacionadas (por similaridade fenotípica)

- [Ictiose congênita autossômica recessiva](https://raras.org/doenca/ictiose-congenita-autossomica-recessiva) — ORPHA:281097 — 50 sintomas em comum
- [Eritrodermia ictiosiforme congênita](https://raras.org/doenca/eritrodermia-ictiosiforme-congenita) — ORPHA:79394 — 26 sintomas em comum
- [Ictiose Harlequim](https://raras.org/doenca/ictiose-harlequim) — ORPHA:457 — 25 sintomas em comum
- [Síndrome Netherton](https://raras.org/doenca/sindrome-netherton) — ORPHA:634 — 22 sintomas em comum
- [Eritroceratodermia](https://raras.org/doenca/eritroceratodermia) — ORPHA:79355 — 20 sintomas em comum
- [Eritroceratodermia simétrica progressiva](https://raras.org/doenca/316) — ORPHA:316 — 17 sintomas em comum
- [Eritroceratodermia variável tipo Mendes da Costa](https://raras.org/doenca/eritroceratodermia-variavel-tipo-mendes-da-costa) — ORPHA:317 — 17 sintomas em comum
- [Eritroceratodermia variabilis progressiva](https://raras.org/doenca/eritroceratodermia-variabilis-progressiva) — ORPHA:308166 — 17 sintomas em comum
- [Bebê colódio com regressão espontânea](https://raras.org/doenca/bebe-colodio-com-regressao-espontanea) — ORPHA:281122 — 17 sintomas em comum
- [Displasia ectodérmica hipohidrótica](https://raras.org/doenca/displasia-ectodermica-hipohidrotica) — ORPHA:238468 — 15 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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