Skin fragility syndrome

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering
MedicalCondition developmental_defect_during_embryogenesis Q7535394
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Skin fragility syndrome

Summary

Skin fragility syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • Skin fragility syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • Skin fragility syndrome's instance of is recorded as rare disease[3].
  • Skin fragility syndrome's instance of is recorded as class of disease[4].
  • Skin fragility syndrome is a type of epidermolysis bullosa simplex[5].
  • Skin fragility syndrome is a type of suprabasal epidermolysis bullosa simplex[6].
  • Skin fragility syndrome is a type of hereditary epidermolysis bullosa associated with ocular features[7].
  • Skin fragility syndrome's health specialty is recorded as dermatology[8].
  • Skin fragility syndrome's genetic association is recorded as PKP1[9].
  • Skin fragility syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_158668[10].

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APA 4ort.xyz Knowledge Graph. (2026). Skin fragility syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/skin-fragility-syndrome
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BibTeX @misc{4ortxyz_skin-fragility-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Skin fragility syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/skin-fragility-syndrome}, note = {Accessed: 2026-05-03}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0011472
    Orphanet id 158668
    Imported from
    Mesh descriptor id C536183
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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