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Skin fragility syndrome

MeSH: C536183ORPHA: 158668

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Skin fragility syndrome, sourced from HPO and Orphanet clinical annotations.

Palmoplantar keratodermaFragile skinNail dystrophyHypohidrosisGait disturbanceFailure to thriveAlopecia universalisSparse hairChapped lipScaling skinAbnormality of the dentitionCarious teethPruritusRecurrent skin infectionsChronic diarrheaShort statureAnoperineal fistulaAbnormal dental morphologyRecurrent pneumoniaFollicular hyperkeratosisAbnormal blistering of the skinUrethral strictureAbnormal tongue morphologyScarringSepsisCheilitis

Classification & Codes

MeSH Code

C536183

Orphanet Code

ORPHA:158668
Skin fragility syndrome
MeSHC536183
OrphanetORPHA:158668
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO