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A 16 year-old patient of Hawaiian ancestry was admitted for confusion in April 2018. He had no relevant past medical history except he went to the dentist few months ago for patchy darkish pigmented macules of the oral mucosa (Fig. 1A). His mother reported that he complained of pharyngitis and diarrhoea since one week. Blood pressure, body temperature and heart rates at admission were 80/50 mm Hg, 38.3°C and 163 beats per min respectively. Oxygen saturation and glycemia were estimated to 100% room air and 3.2 mmol/L using pulse oximeter and glucometer respectively. The patient did not exhibit neck stiffness, physical examination was normal except localised skin pigmentation disorders (Fig. 1B). Screening of drugs of abuse or alcohol yielded negative results. White blood cells count was increased with left shift (21 000/mm3, 68% neutrophils) and haemoglobin level was 15.9g/dL. Platelets count was within normal range and Procalcitonin value was 4.78ng/mL. Blood chemistry results before and after crystalloid fluid resuscitation started immediately after admission, are shown in Fig. 1C. What is the most plausible diagnosis?
Fig. 1A. Patchy darkish pigmented macules of the oral mucosa (lower lips). B. Localised skin pigmentation disorders. Upper panel: hyperpigmentation of the palmar creases. Lower left panel: vitiligo of the thigh. Lower right panel: hyperpigmentation of the dorsum of the hands with accentuation over the interphalangeal joints. C. Blood chemistry results before and after crystalloid fluid resuscitation started immediately after admission. Admission time is quoted as Hour 0 (H0). H1: 1 hour after admission. H4: 4 hours after admission.
Blood cortisol level at 08.00 am was 57 nmol/L (normal value >275nmol/L) and antiadrenal antibody test was positive at 1 in 100 dilutions (normal value ≤ at 1 in 10 dilutions), in line with the diagnosis of Addison's disease (AD). Moreover, Adrenal crisis was confirmed here by the presence of shock with inappropriate natriuresis [
]. Interestingly, hypoglycemia and hyperkaliemia were not constantly present during Adrenal crisis, as suggested by the blood levels of glucose or potassium here. The outcome was favourable (normal consciousness and temperature) after hydrocortisone supplementation.
This case illustrates that a subset of AD are still revealed by adrenal crisis, because the onset of asthenia (which is the key symptom of AD) is so insidious that it is not reported by the patient or his relatives [
]. Hyperpigmentation of the palmar creases and of the dorsum of the hands with accentuation over the interphalangeal joints (Fig. 1B), which is one of the earliest symptom of AD in connection with Adenocorticotropic Hormon and Proopiomelanocortin secretion [
], went unnoticed (as well as vitiligo of the thigh, Fig. 1B) in this patient with high skin phototype. Conversely, darkish pigmentation of the oral mucosa (Fig. 1A) remained unexplained before the onset of adrenal crisis. Except AD, the main diagnoses to consider in case of patchy darkish pigmentation of the oral mucosa are Peutz-Jeghers Syndrome and Laugier-Hunzicker Syndrome [
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