May 2019 | Case of the Month

History

A 37 year old lady was referred with a history of increased facial pigmentation. She had not recently given birth and was not on any hormonal treatment. The patient who was previously otherwise well had unexpectedly lost 4 stone in weight. 


Examination

There was very marked hyperpigmentation of UV-exposed sites (the patient was skin type 1), the palmar creases, the lips and tongue. 


Investigations

What is the diagnosis?


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Diagnosis

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The diagnosis is Addisons disease, which was confirmed by the endocrinologists to who I had urgently referred the patient.
 

Features of Addisons include:

  • Systemic features
    • Include fatigue, weight loss, dizziness on standing, abdominal pain, vomiting and psychiatric symptoms
  • Hyperpigmentation
    • Affects UV-exposed sites, palmar creases, buccal mucosa, gums, scars, hair and nails, areas subject to friction
    • There is accentuation of normally high pigmentation areas such as the areolae, axillae, genital skin and umbilicus
  • ​Investigations
    • Low serum sodium and raised serum potassium
    • Serum urea and albumin are raised because of dehydration
    • Serum cortisol level taken ideally between 8-9 am (random measurements have a low sensitivity for Addison's disease due to the pulsatile nature and diurnal variation of cortisol secretion). If the level of serum cortisol is:
      • < 100 nanomol/L - adrenal insufficiency is highly likely (if the patient is not on oral or inhaled steroids)
      • > 400 nanomol/L - adrenal insufficiency is unlikely (diagnosis not excluded if the patient is acutely unwell at the time since cortisol values may increase during illness)
      • Between 100 and 400 nanomol/L - refer to a specialist for further investigations eg synacthen test

For more information on the causes of facial hyperpigmentation click on the link. 

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