Ichthyosis: Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps:

  • General physical examination – including blood pressure, pulse, body weight, height; further:
    • Inspection (viewing) – appearance depends on the form of ichthyosis (see “Symptoms – Complaints” below).
      • Skin
        • Blistering?
        • Erythroderma (redness of the skin)?
        • Rhagades? (fissures; narrow, cleft-shaped tear that cuts through all layers of the epidermis (epidermal layer)); infections can develop in the cracks
        • Scales: Appearance, size, color, texture, infestation pattern.
        • Dry and rigid (rigid) skin.
        • Coarsened hand line pattern (“ichthyosis hand”)?
        • Hornification of the epidermis (epidermis).
      • Predilection sites
        • Extremities extensor sides, palms, soles of feet?
        • Articular flexors?
        • Generalized skin infestation? (affecting the whole body)
      • Hair and nails
        • Distinct defect of the hair shaft? (Trichorrhexis invaginata (TI); bamboo hair).
        • Hair loss?
        • Growth disorders?
      • Face
        • Eclabium? (Inability to close the lips)
        • Ectropion? (Outward protrusion of the eyelid margin through the tightly stretched facial skin).
  • Cancer screening – in the context of secondary ichthyosis as paraneoplasia.
  • Dermatological examination [due topossible atopic diathesis (predisposition to hypersensitivity reactions)] – depending on the form of ichthyosis (see below “Symptoms – complaints”).
    • Endogenous eczema?
    • Neurodermatitis?
  • Ophthalmological examination [due topossible accompanying symptoms] – depending on the form of ichthyosis (see below “Symptoms – complaints”).
    • Corneal changes?
  • Urological examination [due topossible accompanying symptoms] – depending on the ichthyosis form (see below “Symptoms – complaints”).
    • Cryptorchidism? (20% of cases) – absence of one or both testes in the scrotum (not palpable) or the testis has an intra-abdominal location (retentio testis abdominalis; abdominal testis) or is absent (anorchia).
  • Health check

Square brackets [ ] indicate possible pathological (pathological) physical findings.