Genetic Pigmentary Disorders with Skin and Sensory Involvement in Paediatrics: A Comprehensive Review of the Management of Albinism

Author

Dr Edwin Dias, Thanshifa Fathima


Abstract

 Genetic pigmentary disorders are a diverse group of genetically inherited diseases that present with a reduced or lack of melanin pigment production or distribution. Paediatric pigmentary diseases are often bilateral and present within the first decades of life and present within the skin, eyes, and the sense organs. Oculocutaneous albinism is one of the most prevalent paediatric pigmentary diseases with its link to visual impairment, photo-sensitivity, and the possibility of developing tumours within the skin. This review examines the genetic basis, pathogenesis, clinical patterns, diagnosis, and the current multi-disciplinary and holistic management of paediatric albinism. The review focuses on the role of the dermatological department, visual rehabilitation, pharmacologic therapy, genetic and psychological support.



Keywords

Albinism, Paediatric pigmentary disorders, Oculocutaneous albinism, Visual impairment, Genetic disorders



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References


  1. Nordlund JJ, Boissy RE, Hearing VJ. The pigmentary system. Oxford: Oxford University Press; 2006.
  2. Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. J Dermatol Sci. 2012;66(1):3–9.
  3. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
  4. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997;34(8):656–65.
  5. King RA, Oetting WS, Summers CG. Albinism. Lancet. 2007;370(9603):195–206.
  6. Summers CG. Vision in albinism. Trans Am Ophthalmol Soc. 1996;94:1095–155.
  7. Bradford PT. Skin cancer in albinism. J Am Acad Dermatol. 2009;60(4):571–8
  8. Lund PM. Health and education of children with albinism. Dev Med Child Neurol. 2001;43(11):782–9.
  9. Orlow SJ. Pigmentary disorders. Dermatol Clin. 2005;23(2):257–67.
  10. Griscelli C, Durandy A. Immunodeficiency with hypopigmentation. Am J Med. 1978;65(4):691–702.
  11. Hermansky F, Pudlak P. Albinism with hemorrhagic diathesis. Blood. 1959;14:162–9.
  12. Pingault V, Ente D, Dastot-Le Moal F. Auditory-pigmentary syndromes. Hum Genet. 2010;128(5):453–71.
  13. Oetting WS. The tyrosinase gene and albinism. Pigment Cell Res. 2000;13(5):320–5.
  14. Hutton SM, Spritz RA. Comprehensive analysis of OCA2. Am J Hum Genet. 2008;82(2):308–17.
  15. Rooryck C, Morice-Picard F. OCA4 review. Eur J Hum Genet. 2008;16(1):29–35.
  16. Simeonov DR, Wang X. Advances in albinism genetics. Genet Med. 2013;15(9):689–97.
  17. Hearing VJ. Biogenesis of melanosomes. J Invest Dermatol. 2005;125(4):641–6.
  18. Jeffery G. Developmental anomalies in albinism. Eye. 1997;11(2):217–23.
  19. Hong ES, Zeeb H. Clinical spectrum of albinism. Pediatr Dermatol. 2006;23(5):405–10.
  20. Lookingbill DP, Lookingbill GL. Actinic damage in albinism. Arch Dermatol. 1995;131(12):1441–6.
  21. Abadi RV, Pascal E. Visual deficits in albinism. Vision Res. 1991;31(5):915–20.
  22.  Thomas MG, Kumar A. Foveal hypoplasia grading. Ophthalmology. 2011;118(8):1653–60.
  23. Tietz W. A syndrome of deaf-mutism and albinism. Am J Hum Genet. 1963;15:259–64.
  24. Sheth V, Reddy S. Waardenburg syndrome. Indian J Dermatol. 2012;57(6):476–9.
  25. Pingault V. Melanocyte-related deafness. Hum Mol Genet. 2018;27(R2):R120–9.
  26. Orlow SJ. Diagnostic evaluation of hypopigmentation. Dermatol Clin. 2010;28(3):427–38.
  27. McAllister JT. OCT in albinism. Invest Ophthalmol Vis Sci. 2010;51(12):6601–8.
  28. Green AC. Sunscreen and photoprotection. Lancet. 1999;354(9180):723–9.
  29. Kromberg JG. Cancer risk in albinism. S Afr Med J. 2013;103(10):663–4.
  30. Chiang MF. Pediatric low vision rehabilitation. Pediatrics. 2015;136(1):e201–8.
  31. Weiss AH. Amblyopia therapy. Ophthalmology. 2006;113(2):348–56.
  32. Carden SM. Visual aids in albinism. Clin Exp Optom. 2012;95(1):54–9.
  33. Holick MF. Vitamin D deficiency. N Engl J Med. 2007;357(3):266–81.
  34. Biesecker LG. Genetic counseling. N Engl J Med. 2002;347(19):1553–60.
  35. Franklin A. Social aspects of albinism. Soc Sci Med. 2010;71(6):1031–9.
  36. Marçal N. Future therapies in albinism. Exp Eye Res. 2020;201:108300.

 

 

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