Rare Diseases Symptoms Automatic Extraction

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.

[x-linked adrenoleukodystrophy]

Cutaneous manifestations are commonly observed in pediatric patients with systemic lupus erythematosus. Acanthosis nigricans, however, is rarely reported, and even less often in association with neuropsychiatric manifestations of lupus erythematosus. We describe a 9-year-old boy with acute behavioral and cognitive deterioration, combined with cutaneous, diffuse hyperpigmented and hyperkeratotic plaques. Cerebral magnetic resonance imaging revealed cortical atrophy and white matter abnormalities involving the fornix, corpus callosum, and parieto-occipital periventricular regions. The presence of progressive cognitive and behavioral deterioration, combined with abnormal white matter signals on magnetic resonance imaging, led us to suspect X-linked adrenoleukodystrophy. The subsequent development of systemic signs, together with positive serologic tests, confirmed the diagnosis of neuropsychiatric lupus with acanthosis nigricans. We review the literature on acanthosis nigricans in systemic lupus erythematosus and the value of magnetic resonance imaging in evaluating patients with neuropsychiatric systemic lupus.

Diseases presenting "however" symptom

  • adrenal incidentaloma
  • alexander disease
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • cushing syndrome
  • dedifferentiated liposarcoma
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • esophageal carcinoma
  • focal myositis
  • heparin-induced thrombocytopenia
  • hodgkin lymphoma, classical
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • krabbe disease
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • omenn syndrome
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • thoracic outlet syndrome
  • von hippel-lindau disease
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy

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