Hyperpigmented Patch: an Uncommon but Early Marker of Wilson's Disease

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2022 Feb 8

PMID 35131781

Authors

Lokesh Tiwari

Fadila

Arnab Ghorui

Affiliations

Soon will be listed here.

Abstract

Wilson's disease in childhood could present with features ranging from asymptomatic liver disease to acute liver failure and cirrhosis. Neurological manifestations and psychiatric illness occur more commonly in adults and older children. Skin manifestation with Wilson's disease is not frequently reported in literature but could be an early diagnostic clincher. We present a child with hepatic Wilson's disease and skin hyperpigmentation. We aim to highlight the possible importance of skin lesions as an early marker of Wilson's disease.

References

Sternlieb I . Perspectives on Wilson's disease. Hepatology. 1990; 12(5):1234-9. DOI: 10.1002/hep.1840120526. View

Santos Silva E, Sarles J, Buts J, Sokal E . Successful medical treatment of severely decompensated Wilson disease. J Pediatr. 1996; 128(2):285-7. DOI: 10.1016/s0022-3476(96)70412-2. View

Cozzani E, Herzum A, Burlando M, Parodi A . Cutaneous manifestations of HAV, HBV, HCV. Ital J Dermatol Venerol. 2019; 156(1):5-12. DOI: 10.23736/S2784-8671.19.06488-5. View

Azizi E, Eshel G, Aladjem M . Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. Eur J Pediatr. 1989; 148(6):548-9. DOI: 10.1007/BF00441555. View

Bem R, Muzzillo D, Deguti M, Barbosa E, Werneck L, Teive H . Wilson's disease in southern Brazil: a 40-year follow-up study. Clinics (Sao Paulo). 2011; 66(3):411-6. PMC: 3072000. DOI: 10.1590/s1807-59322011000300008. View

Nandi M, Sarkar S, Mondal R . Generalized hyperpigmentation in Wilson's disease: An unusual association. J Neurosci Rural Pract. 2013; 4(1):70-2. PMC: 3579056. DOI: 10.4103/0976-3147.105621. View

Steiner P, Frey P, Lupi G, KISTLER H . [Familial Wilson's disease: copper induced hemolysis, hypersplenism and hyperpigmentation as the main symptoms]. Schweiz Med Wochenschr. 1975; 105(27):872-9. View

Thaipisuttikul Y . Acanthosis nigricans associated with hepatolenticular degeneration. J Dermatol. 1997; 24(6):395-400. DOI: 10.1111/j.1346-8138.1997.tb02810.x. View

Shah A, Chernov I, Zhang H, Ross B, Das K, Lutsenko S . Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997; 61(2):317-28. PMC: 1715895. DOI: 10.1086/514864. View

10.

Cauza E, POLLI C, Kaserer K, Kramer L, Ferenci P . Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin. J Hepatol. 1997; 27(2):358-62. DOI: 10.1016/s0168-8278(97)80182-1. View

11.

Factor S, Cho S, Sternlieb I, Scheinberg I, Goldfischer S . The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. Virchows Arch A Pathol Anat Histol. 1982; 397(3):301-11. DOI: 10.1007/BF00496571. View

12.

Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I . Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003; 23(3):139-42. DOI: 10.1034/j.1600-0676.2003.00824.x. View

13.

Seyhan M, Erdem T, Selimoglu M, Ertekin V . Dermatological signs in Wilson's disease. Pediatr Int. 2009; 51(3):395-8. DOI: 10.1111/j.1442-200X.2008.02766.x. View