When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Ichthyosis

Última revisão: 7 Aug 2025
Última atualização: 11 Jan 2022

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • scaling
  • skin changes at birth (in congenital ichthyosis)
  • onset in infancy (in ichthyosis vulgaris and X-linked ichthyosis)
  • adult onset (in acquired ichthyosis)
  • male sex
  • family history of ichthyosis
Detalhes completos

Outros fatores diagnósticos

  • history of atopy
  • history of lymphoma, diabetes mellitus, systemic lupus erythematosus
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • alopecia and ectropion in lamellar ichthyosis
  • cryptorchidism and corneal opacities
  • deafness, intellectual disability, limb defects, epilepsy, short stature
Detalhes completos

Fatores de risco

  • positive family history
  • parental consanguinity
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • history of lymphoma, diabetes mellitus, systemic lupus erythematosus
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • skin biopsy
  • serum cholesterol sulfate
  • lipoprotein electrophoresis
  • steroid sulfatase activity
Detalhes completos

Investigações a serem consideradas

  • serum phytanic acid
  • genetic testing
  • CT scan
  • serum glucose
  • antinuclear antibody
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

primary (genetic)

secondary (acquired)

Colaboradores

Autores

Brittany Craiglow, MD

Associate Adjunct Professor of Dermatology

Yale University

New Haven

CT

Declarações

BC declares that she is a member of the Foundation for Ichthyosis and Related Skin Types Advisory Board. BC is an author of a reference cited in this topic.

Agradecimentos

Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this topic.

Declarações

TP declared that he had no competing interests.

Revisores

David Cassarino, MD, PhD

Assistant Professor

Department of Pathology and Laboratory Medicine

University of California

Los Angeles

CA

Declarações

DC declares that he has no competing interests.

Thierry Simonart, MD, PhD

Physician

Department of Dermatology

Erasme University Hospital

Brussels

Belgium

Declarações

TS declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359. Resumo

Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.Texto completo  Resumo

Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29. Resumo

Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Ichthyosis images
  • Diagnósticos diferenciais

    • Asteatotic dermatitis (eczema craquele)
    • Atopic dermatitis
    • Psoriasis
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Ichthyosis
    • Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
    Mais Diretrizes
  • padlock-lockedConectar-se ou assinar para acessar todo o BMJ Best Practice

O uso deste conteúdo está sujeito ao nosso aviso legal