# Cutis laxa

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

## Identificadores

- **ORPHA**: 209 — https://www.orpha.net/en/disease/detail/209
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A cutis laxa (CL) é uma doença do tecido conjuntivo adquirida ou hereditária caracterizada por pele enrugada redundante e flácida inelástica associada a anomalias esqueléticas e do desenvolvimento e, em alguns casos, com envolvimento sistémico grave.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

## Sinais e sintomas (541 fenótipos HPO)

- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Suturas cranianas amplas** — HPO: HP:0010537
- **Crise focal com alteração da consciência** — HPO: HP:0002384
- **Úmero curto** — HPO: HP:0005792
- **Pele redundante no pescoço** — HPO: HP:0005989
- **Exostoses** — HPO: HP:0100777
- **Contratura em flexão do joelho** — HPO: HP:0006380
- **Divertículo uretral** — HPO: HP:0008722
- **Estado de mal epiléptico** — HPO: HP:0002133
- **Contratura articular** — HPO: HP:0034392
- **Hepatite** — HPO: HP:0012115
- **Hemorragia do epitélio pigmentar sub-retiniano** — HPO: HP:0025244
- **Ossos longos delgados com diáfises estreitas** — HPO: HP:0004993
- **Ponte nasal deprimida** — HPO: HP:0005280
- **Úvula estreita** — HPO: HP:0010811
- **Fechamento atrasado da fontanela anterior** — HPO: HP:0001476
- **Peso corporal diminuído** — HPO: HP:0004325
- **Maturação esquelética atrasada** — HPO: HP:0002750
- **Aneurisma da raiz da aorta** — HPO: HP:0002616
- **Defeito do septo atrial** — HPO: HP:0001631
- **Apresentação pélvica** — HPO: HP:0001623
- **Acidente vascular cerebral isquêmico** — HPO: HP:0002140
- **Fratura patológica** — HPO: HP:0002756
- **Regressão do desenvolvimento** — HPO: HP:0002376
- **Corpo caloso displásico** — HPO: HP:0006989
- **Coartação da aorta** — HPO: HP:0001680
- **Face plana** — HPO: HP:0012368
- **Pé torto calcaneovalgo** — HPO: HP:0001884
- **Enfisema** — HPO: HP:0002097
- **Tempo de sangramento prolongado** — HPO: HP:0003010
- **Obstrução ureteral** — HPO: HP:0006000
- **Fratura por compressão vertebral** — HPO: HP:0002953
- **Hérnia umbilical** — HPO: HP:0001537
- **Pneumotórax** — HPO: HP:0002107
- **Retocele** — HPO: HP:0100822
- **Tortuosidade arterial** — HPO: HP:0005116
- **Opacidade corneana** — HPO: HP:0007957
- **Hipotonia do lactente** — HPO: HP:0008947
- **Hérnia femoral** — HPO: HP:0100541
- **Escápula alada** — HPO: HP:0003691
- _...e mais 501 sintomas. Ver https://raras.org/doenca/cutis-laxa._

## Genes associados (15)

- **GORAB** — RAB6-interacting golgin [Disease-causing germline mutation(s) in]
- **SLC2A10** — Solute carrier family 2, facilitated glucose transporter member 10 [Disease-causing germline mutation(s) in]
  - Função: Facilitative glucose transporter required for the development of the cardiovascular system
- **FBLN5** — Fibulin-5 [Disease-causing germline mutation(s) in]
  - Função: Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes
- **RIN2** — Ras and Rab interactor 2 [Disease-causing germline mutation(s) in]
  - Função: Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activa
- **PYCR1** — Pyrroline-5-carboxylate reductase 1, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:
- **LTBP1** — Latent-transforming growth factor beta-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, P
- **ALDH18A1** — Delta-1-pyrroline-5-carboxylate synthase [Disease-causing germline mutation(s) in]
  - Função: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine
- **ATP7A** — Copper-transporting ATPase 1 [Disease-causing germline mutation(s) in]
  - Função: ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) io
- **LTBP4** — Latent-transforming growth factor beta-binding protein 4 [Disease-causing germline mutation(s) in]
  - Função: Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specif
- **ELN** — Elastin [Disease-causing germline mutation(s) in]
  - Função: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial
- **EFEMP1** — EGF-containing fibulin-like extracellular matrix protein 1 [Disease-causing germline mutation(s) in]
  - Função: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulato
- **ATP6V1A** — V-type proton ATPase catalytic subunit A [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translo
- **ATP6V1E1** — V-type proton ATPase subunit E 1 [Disease-causing germline mutation(s) in]
  - Função: Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates prot
- **ATP6V0A2** — V-type proton ATPase 116 kDa subunit a 2 [Disease-causing germline mutation(s) in]
  - Função: Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates prot
- **EFEMP2** — EGF-containing fibulin-like extracellular matrix protein 2 [Disease-causing germline mutation(s) in]
  - Função: Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in t

## Ensaios clínicos ativos (3)

- **NCT06330350** [RECRUITING]: Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling — https://clinicaltrials.gov/study/NCT06330350
- **NCT06330324** [ENROLLING_BY_INVITATION]: Reproductive Options in Inherited Skin Diseases — https://clinicaltrials.gov/study/NCT06330324
- **NCT03440697** [ACTIVE_NOT_RECRUITING]: Pathogenetic Basis of Aortopathy and Aortic Valve Disease — https://clinicaltrials.gov/study/NCT03440697
- **NCT05932732** [COMPLETED]: Trial Assessing the Impact on Facial Skin Quality, Hydration, and Skin Barrier of Three (3) Hydrafacial Treatments in Adults of All Skin Types. — https://clinicaltrials.gov/study/NCT05932732

## Doenças relacionadas (por similaridade fenotípica)

- [Cutis laxa autossômica recessiva tipo 2A](https://raras.org/doenca/cutis-laxa-autossomica-recessiva-tipo-2a) — ORPHA:357058 — 129 sintomas em comum
- [Cutis laxa autossômica recessiva tipo 1](https://raras.org/doenca/cutis-laxa-autossomica-recessiva-tipo-1) — ORPHA:90349 — 122 sintomas em comum
- [Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b4galt7-relacionado) — ORPHA:75496 — 104 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 102 sintomas em comum
- [Síndrome De Barsy](https://raras.org/doenca/sindrome-de-barsy) — ORPHA:2962 — 101 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 99 sintomas em comum
- [Síndrome corno occipital](https://raras.org/doenca/sindrome-corno-occipital) — ORPHA:198 — 97 sintomas em comum
- [Síndrome Loyes-Dietz](https://raras.org/doenca/sindrome-loyes-dietz) — ORPHA:60030 — 96 sintomas em comum
- [Síndrome orelha-rótula-baixa estatura](https://raras.org/doenca/sindrome-orelha-rotula-baixa-estatura) — ORPHA:2554 — 96 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 91 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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