Skin hyperpigmentation: from endocrine dysfunction to peroxisomal disease

CASE REPORTS

Skin Hyperpigmentation: From Endocrine Dysfunction to Peroxisomal Disease

Helena Ferreira, Carla Ferreira, Filipa Correia, Ana Lobo, Catarina Magalhaes, Carla Meireles.

Department of Pediatrics, Hospital da Senhora da Oliveira, Guimarães, Portugal.

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Abstract
Primary adrenal insufficiency, a rare disease in pediatric population, has different etiologies that determine treatment and prognosis. Clinical manifestations can be insidious and subtle, delaying the diagnosis. Hyperpigmentation is a characteristic sign of primary adrenal insufficiency and it can be the only manifestation. X-linked adrenoleukodystrophy is a peroxisomal disorder characterized by very long chain fatty acids accumulation in different organs, namely adrenal gland, leading to adrenal insufficiency. The authors report a 10 years-old boy who presented with behavioral changes, hyperactivity, poor school performance and hyperpigmentation. He was diagnosed to have primary adrenal insufficiency secondary to X-linked adrenoleukodystrophy. His diagnosis was delayed because of the initial vague symptoms. With this case the authors aim to increase the awareness to different clinical manifestations of primary adrenal insufficiency as well as create awareness that X-linked adrenoleukodystrophy is an important etiology of adrenal insufficiency in boys.

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