Oral hyperpigmentation with weakness and salt-craving

INITIAL MANAGEMENT AND WORKUP

Intravenous fluids were initiated for her symptoms of weakness and presyncope.

Physical examination demonstrated generalized cutaneous hyperpigmentation involving the lips, tongue, and buccal mucosa (Figure 1), as well as the gums and palmar creases.

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Figure 1

Hyperpigmented lesions involved the lower lip (black arrow), tongue (yellow arrow), and buccal mucosa (red arrow).

Laboratory testing revealed a cortisol level of 0.8 μg/dL (reference range 3.10–22.40) and adrenocorticotropic hormone (ACTH) greater than 1,250 pg/mL (0.00–45.99). Intravenous saline and hydrocortisone succinate were initiated. The thyroid-stimulating hormone level was slightly elevated and, of note, her electrolytes and blood urea nitrogen-to-creatinine ratio were normal at the time of presentation to the emergency department. She was transitioned to hydrocortisone and fludrocortisone the next day.

ADDISON DISEASE: KEY FEATURES

In the United States and Western Europe, Addison disease has a prevalence of 1 in 20,000 persons, higher in women than in men.¹ The diagnosis is challenging due to the nonspecific constitutional symptoms, which are frequently mistaken for psychiatric disorders, extra-adrenal gastrointestinal endocrine disorders, or other endocrine disorders such as hypothyroidism.² The symptoms are subtle and often insidious and can include hyperpigmentation, anorexia, nausea, and fatigue. Elevated ACTH levels and lack of a rise in cortisol levels after an ACTH stimulation test confirm the diagnosis. In our patient, the almost undetectible cortisol level combined with extremely high ACTH level confirmed primary adrenal insufficiency and obviated the need for a formal ACTH-stimulation test.

The mainstay of treatment is lifelong oral hormone replacement therapy with glucocorticoids and mineralocorticoids at doses sufficient to keep electrolytes and plasma renin activity levels in the upper limits of normal.^3,4

CASE CONCLUSION AND TAKE-HOME MESSAGE

Our patient’s case illustrates how misattributing hyperpigmented lesions on the lip, tongue, and buccal mucosa as due to pen ink in a patient with symptoms of weakness, presyncope, salt-craving, nausea, and vomiting delayed the diagnosis of this potentially life-threatening disease. In this case, the patient’s own Internet search raised suspicion of adrenal insufficiency.

At 6 months after her presentation to the emergency department, she had gained about 10 pounds, with no recurrence of the periods of weakness. Her buccal hyperpigmentation also appeared to be lightening.

Thus, in a patient presenting with new onset of oral hyperpigmentation, clinicians should consider the pigmented lesions in the context of clinical symptoms with a high degree of suspicion for Addison disease.

DISCLOSURES

The authors report no relevant financial relationships which, in the context of their contributions, could be perceived as a potential conflict of interest.