Dark skin - constitutional or pathological? A X-linked Adrenoleukodystrophy case report


  • Clara Preto Department of Pediatrics, Centro Hospitalar de Trás-os-Montes e Alto Douro
  • José Eduardo Alves Department of Neuroradiology, Centro Hospitalar do Porto
  • Marcelo Fonseca Department of Pediatric Endocrinology, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos
  • Manuela Santos Department of Neuropediatrics, Centro Materno Infantil do Norte, Centro Hospitalar do Porto
  • Natalina Miguel Department of Pediatrics, Centro Hospitalar de Trás-os-Montes e Alto Douro




Adrenal insufficiency, cerebral demyelination, dark skin, X-linked adrenoleukodystrophy


Introduction: X-linked adrenoleukodystrophy is a genetically determined peroxisomal disease.
Clinical case: An eleven-year-old boy was referred to a pediatric clinic due to generalized hyperpigmentation beginning at the age of six. By ten years of age he started to present behavior changes and decreased school perfomance. History of cutaneous hyperpigmentation was documented in the boy’s maternal uncle. Blood tests were compatible with adrenal insufficiency. Brain Magnetic Resonance Imaging showed frontal leukoencephalopathy. The elevated plasmatic concentration of very long-chain fatty acids and the genotype sequencing of ABCD1 gene established the diagnosis of X-linked adrenoleukodystrophy. The boy´s general condition improved with adrenal insufficiency corticoesteroid treatment however progressive cognitive function deterioration was maintained.
Discussion/Conclusion: Early diagnosis and treatment of this rare condition is very important as it can change the disease course. In this case report, given the severity of neurological involvement at diagnosis, no treatment was available to halt neurological disease progression.


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Singh I, Pujol A. Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis. Brain Pathol 2010; 20(4):838-44.

Engelen M, Kemp S, Visser M et al. Clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet Journal of Rare Diseases 2012; 7:51-64

Bezman L, Moser AB, Raymond GV et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49(4):512-17

Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-508

Cappa M, Bizarri C, Vollono C, Petroni A, Banni S. Adrenoleukodystrophy. Endocr Dev 2011; 20:149-60.

Ronghe MD, Barton J, Jardine PE et al. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison’s disease. Arch Dis Child 2002; 86:185-89

Dubey P, Raymond GV, Moser AB, Kharkar S, Bezman L, Moser HW. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J Pediatr 2005; 146(4):528-32

Laureti S, Casucci G, Santeusanio F, Angeletti G, Aubourg P, Brunetti P. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J Clin Endocrinol Metab 1996; 81(2):470-4

Van der Knaap MS, Valk J: X-linked adrenoleukodystrophy. In: Magnetic Resonance of Myelination and Myelin Disorders. Heilmann U (3rd edition). Berlin-Heidelberg-New York: Springer; 2005:176-90

Berger J, Pujol A, Aubourg P, Forss-Petter S. Current and Future Pharmacological Treatment Strategies in X Linked Adrenoleukodystrophy. Brain Pathol. 2010; 20(4):845-56

Moser HW, Moser AB, Smith KD et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15:645-64

Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 2005; 9 Suppl 7:55-62

Engelen M, Ofman R, Dijkgraaf MG, et al. Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med 2010; 362:276-77

Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci 2007; 33(1):105-13

Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 2005; 294(24):3131-4




How to Cite

Preto C, Alves JE, Fonseca M, Santos M, Miguel N. Dark skin - constitutional or pathological? A X-linked Adrenoleukodystrophy case report. REVNEC [Internet]. 2018Oct.17 [cited 2024Mar.5];27(3):191-5. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/12753



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