Porphyrias: Examination

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

  • General physical examination – including blood pressure, pulse, body temperature, body weight, body height; furthermore:
    • Inspection (viewing).
      • Skin
        • Sun/light intolerance reactions → skin and tissue damage.
          • Redness
          • Swellings
          • Burns
          • Blistering of the skin
          • Death of the tissue
          • Scarring
          • Disfigurements (loss of lips, nose, auricle, finger parts, etc.)
          • Hypertrichosis (here: increased facial hair on the forehead, cheeks, around the eyes after healing of photodermatosis).
        • Brown coloration of the skin (due to incorporation of porphyrins into it).
        • Anemia (pallor due to the heme deficiency / lack of red blood pigment).
      • Oral cavity [erythrodontia (“blood teeth”) due to incorporation of porphyrins into the teeth].
      • Abdomen (abdomen)
        • Shape of the abdomen?
        • Skin color? Skin texture?
        • Efflorescences (skin changes)?
        • Pulsations? Bowel movements?
        • Visible vessels?
        • Scars? Hernias (fractures)?
    • Auscultation (listening) of the heart [due todifferential diagnosis: endocarditis (inflammation of the inner wall of the heart)].
    • Examination of the abdomen (abdomen)
      • Auscultation (listening) of the abdomen [vascular or stenotic sounds?, bowel sounds?]
      • Percussion (tapping) of the abdomen.
        • [Meteorism (flatulence): hypersonoric tapping sound.
        • Attenuation of tapping sound due to enlarged liver or spleen, tumor, urinary retention?
        • Hepatomegaly (liver enlargement): estimate the size of the liver.
        • Cholelithiasis (gallstones): tapping pain over gallbladder region and right lower rib]
      • Palpation (palpation) of the abdomen (abdomen) (tenderness?, knocking pain?, coughing pain?, defensive tension?, hernial orifices?, kidney bearing knocking pain?)
  • Cancer screening [due tosecondary disease: hepatocellular carcinoma (liver cancer)]
  • Gynecological examination[due todifferential diagnoses:
    • Dysmenorrhea (period pain).
    • Extrauterine pregnancy (pregnancy in which implantation occurs outside the uterus).
    • Hyperemesis gravidarum (extreme nausea of pregnancy)]
  • Neurological examination
    • [due tosymptoms:
      • Epileptic seizures (convulsions).
      • Muscle weakness (beginning in the extremities).
      • Paresis (incomplete paralysis).
      • Paralyses (complete paralyses).
      • Sensory disorders (sensory disturbances)]
    • [due todifferential diagnoses:
  • Orthopedic examination [due todifferential diagnosis: osteoporosis (bone loss)].
  • Psychiatric examination[due tosymptoms:
    • Delirium (states of confusion).
    • Psychosis
    • Mood swings]
  • Urological examination[due tosequelae:
    • Renal insufficiency (kidney weakness).
    • Renal failure]
  • Health check

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