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Bazex-Dupre-Christol Syndrome

Bazex-Dupre-Christol Syndrome Deep Research Fallback

⚠️ Fallback MONDO:0010535

Bazex-Dupre-Christol Syndrome Deep Research Fallback

Scope

This fallback artifact supports curation of Bazex-Dupre-Christol syndrome (BDCS), represented by MONDO:0010535 and the structured hereditary Orphanet record ORPHA:113.

Structured Sources

  • ORPHA:113 provides the hereditary BDCS definition, synonyms, X-linked dominant inheritance, neonatal/infancy onset, ultra-rare worldwide prevalence, and 15 HPO phenotype-frequency rows.
  • ORPHA:166113 describes adult-onset paraneoplastic acrokeratosis of Bazex. It shares the ambiguous label "Bazex syndrome" but is clinically distinct from hereditary BDCS; its phenotype rows were not imported.

PubMed and Guideline Sources Used

  • PMID:35986704: eight-family copy-number study identifying noncoding Xq26.1 duplications and likely ARHGAP36 dysregulation as the current causal model.
  • PMID:28869610: ACTRT1/eRNA inherited and sporadic basal-cell-carcinoma study supporting Hedgehog pathway activation in a BDCS-associated mechanism, used as mechanistic context because newer work argues ACTRT1 loss-of-function is unlikely to be the primary BDCS cause.
  • PMID:33972689: ARP-T1-associated BDCS tissue/cell study supporting shortened cilia and ciliopathy-like skin-cancer biology.
  • PMID:29808590: clinical/molecular review summarizing the classic BDCS triad and missed counseling/follow-up opportunity with delayed diagnosis.
  • PMID:8782050: Scottish family report supporting X-linked dominant inheritance, hair follicle disorder framing, and early-onset/familial BCC differential diagnosis.
  • PMID:18304168: mother-child report supporting early-life follicular, hair, milia, hypohidrosis, and basal-cell features.
  • PMID:8129412: large family report supporting clinical pattern, sex-dependent expression, and X-linked dominant inheritance.
  • PMID:40015599: recent family report confirming the Xq26.1 duplication in an additional family.
  • DOI:10.1111/ddg.15566: basal cell carcinoma guideline supporting surgical removal as first-choice management for most BCC lesions.

Curation Boundaries

  • All ORPHA:113 HPO phenotype-frequency rows are represented.
  • ORPHA:166113 phenotypes were deliberately excluded because that record is a distinct paraneoplastic condition rather than hereditary BDCS.
  • The genetic section uses Xq26.1 duplication-mediated ARHGAP36 dysregulation as the primary current model, while retaining ACTRT1/ARP-T1 ciliary and Hedgehog evidence only as mechanistic context.
  • Treatment curation is limited to lesion-directed surgical removal of basal cell carcinomas and genetic counseling because those have quotable cached evidence in the current source set.

Provider Attempts

  • timeout 75s just research-disorder falcon Bazex_Dupre_Christol_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.
  • timeout 75s just research-disorder openai Bazex_Dupre_Christol_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.

The curation was completed from structured Orphanet rows and cached PubMed/guideline evidence to avoid blocking on provider availability.