The interpretation of color – an endocrine cause of skin discoloration mimicking cyanosis

Abstract

Primary adrenal insufficiency, or Addison's disease, is very rare in the pediatric population. The diagnosis of Addison's disease is usually suspected in the presence of hyponatremia and hyperkalemia, or when adrenal crisis develops. Pediatricians often are unaware of other presenting symptoms of the disease. As a consequence, diagnosis is often delayed by months and even years. One of the presenting signs of adrenal insufficiency is hyperpigmentation. We present the diagnosis of Addison's disease in an 11-year-old boy complaining of skin color changes that were misinterpreted as "progressive cyanosis". When skin color changes occur in a child, pediatricians should think of hyperpigmentation as a presenting sign of adrenal insufficiency.

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

“…Biopsy of pigmented lesions in AD shows not only melanocytic infiltration of the basal epidermal layer and melanophages in the superficial dermis, but also acanthosis, perivascular lymphocytic infiltrate, and hyperkeratosis [ 25 ]. While the buccal area is the most affected by oral mucosal lesions, the pigmentation may also be located on the palatine arches, lips, gums, and tongue [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”

“…Pigmented oral lesions vary from a patchy lesion (for instance, macular-like or nodular-like) to a diffuse colored area, underlying various histological types [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. Different colors are described; the most frequent is dark brown or black [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. The dark-blue tendency might be misinterpreted as cyanosis [ 34 ].…”

“…Different colors are described; the most frequent is dark brown or black [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. The dark-blue tendency might be misinterpreted as cyanosis [ 34 ]. Many cases of oral hyperpigmentation are asymptomatic, but some are accompanied by local pain, itchiness, and burn-like lesions [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”

“…The dark-blue tendency might be misinterpreted as cyanosis [ 34 ]. Many cases of oral hyperpigmentation are asymptomatic, but some are accompanied by local pain, itchiness, and burn-like lesions [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. The combination of color, localization, and surface arrangement represents a useful index of suspicion for AD, especially in previously unrecognized AD cases [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”

“…Many cases of oral hyperpigmentation are asymptomatic, but some are accompanied by local pain, itchiness, and burn-like lesions [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. The combination of color, localization, and surface arrangement represents a useful index of suspicion for AD, especially in previously unrecognized AD cases [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. It is essential to adequately investigate oral lesions since they are frequently registered before extraoral manifestations of AD, as opposed to skin hyperpigmentation which accompanies general signs and symptoms such as hypotension, nausea, vomiting, anorexia, and weight loss [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”