Cutaneous Manifestations of Cystic Fibrosis

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Cystic fibrosis (CF) is an autosomal recessive affliction triggered by genetic mutations in the cystic fibrosis transmembrane conductance regulator. The lung and pancreas are the most frequently affected organs in cystic fibrosis, cutaneous involvement is undervalued and underdiag-nosed. Skin lesions observed in patients diagnosed with cystic fibrosis are not well known and can create confusions with other dermatological diseases. The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.

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  • 1. Bernstein ML McCusker MM Grant-Kels JM. Cutaneous manifestations of cystic fibrosis. Pediatr Dermatol. 2008;25:150-157.

  • 2. Strandvik B. Relation between essential fatty acid metabolism and gastrointestinal symptoms in cystic fibrosis. Acta Paediatr Scand Suppl. 1989;363:58-63.

  • 3. Darmstadt GL McGuire J Ziboh VA. Malnutrition-associated rash of cystic fibrosis. Pediatr Dermatol. 2000;7:337-347.

  • 4. Phillips RJ Crock CM Dillon MJ et al. Cystic fibrosis presenting as kwashiorkor with florid skin rash. Arch Dis Child. 1993;69:446-448.

  • 5. O’Regan GM Canny G Irvine AD. ‘Peeling paint’ dermatitis as a presenting sign of cystic fibrosis. Case report. Journal of Cystic Fibrosis. 2006;5:257-259.

  • 6. Liu T Howard RM Mancini AJ et al. Kwashiorkor in the United States: fad diets perceived and true milk allergy and nutritional ignorance. Arch Dermatol. 2001;137:630-636.

  • 7. Egan M. Cystic fibrosis. In: Kliegman RM Stanton BF Schol NF StGeme JW III Behrman RE editors. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: Elsevier; 2011. p. 1481-1497.

  • 8. Rowe SM Miller S Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005;352:1992-2001.

  • 9. Schmidt CP Tunnessen W. Cystic fibrosis presenting with periorificial dermatitis. J Am Acad Dermatol. 1991;25:896-897.

  • 10. Osman K Akesson A Berglund M et al. Toxic and essential elements in placentas of Swedish women. Clin Biochem. 2000;33:131-138.

  • 11. Roulet M Frascarolo P Rappaz I et al. Essential fatty acid deficiency in well nourished young cystic fibrosis patients. Eur J Pediatr. 1997;156:952-956.

  • 12. Lowes MA Khaira GS Holt D. Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. Australas J Dermatol. 2000;41:172-174.

  • 13. Skopnik H Kusenbach G Bergt U et al. Taurine supplementation in cystic fibrosis (CF): effect on vitamin E absorption kinetics. Klin Padiatr. 1991;203:28-32.

  • 14. Ciuca I Pop L Popa Z et al. Allergies in children with cystic fibrosis. Journal of Cystic Fibrosis. 2011;10(S1):S59/233.

  • 15. Nelson LA Callerame ML Schwartz RH. Aspergillosis and atopy in cystic fibrosis. Am Rev Respir Dis. 1979;120:863-873.

  • 16. Baxi S Dinakar C. Urticaria and angioedema. Immunol Allergy Clin North Am. 2005;25:353-367.

  • 17. Ramesh S. Antibiotic hypersensitivity in patients with CF. Clin Rev Allergy Immunol. 2002;23:123–141.

  • 18. Weinstein M Ryan J Rogers P. Letter: skin wrinkling and nerve function. Lancet. 1974;2:907.

  • 19. Ramesh S. Antibiotic hypersensitivity in patients with CF. Clin Rev Allergy Immunol. 2002;23:123–141.

  • 20. Burdge DR Nakielna EM Rabin HR. Photosensitivity associated with ciprofloxacin use in adult patients with cystic fibrosis. Antimicrob Agents Chemother. 1995;39:793.

  • 21. Garçon-Michel N Roguedas-Contios AM Rault G et al. Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis? Br J Dermatol. 2010;163:162-166.

  • 22. Weil B Chaillou E Troussier F et al. Aquagenic palmoplantar keratoderma in children with cystic fibrosis. Arch Pediatr. 2013;20:1306-1309.

  • 23. Katz KA Yan AC Turner ML. Aquagenic wrinkling of the palms in patients with cystic fibrosis homozygous for the delta F508 CFTR mutation. Arch Dermatol. 2005;141:621-624.

  • 24. Betlloch I Vergara G Albares MP et al. Aquagenic keratoderma. J Eur Acad Dermatol Venereol. 2003;17:306-307.

  • 25. Finnegan MJ Hinchcliffe J Russell-Jones D et al. Vasculitis complicating cystic fibrosis. Q J Med. 1989;72:609-621.

  • 26. Schidlow DV Panitch HB Zaeri N et al. Purpuric rashes in cystic fibrosis. Am J Dis Child. 1989;143:1030-1032.

  • 27. John EG Medenis R Rao S. Cutaneous necrotizing venulitis in patients with cystic fibrosis. J Pediatr. 1980;97:505.

  • 28. Healy E Meenan FO Fitzgerald MX et al. Basal cell carcinoma and cystic fibrosis: a report of two cases. Br J Dermatol. 1993;128:701-702.

  • 29. Mascaro JM Jr. Ferrando J Bombi JA et al. Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings. Arch Dermatol. 1995;131:454-458.

  • 30. Rubio-Gonzalez T Alvarez-Valiente H. Neurofibromatosis and cystic fibrosis: a case report. Rev Neurol. 1999;29:604-606.

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