Revista chilena de pediatria · 2015
[Cutaneous manifestations of cystic fibrosis in an infant: acrodermatitis enteropathica and gray hair].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yarmuch G Paula, Chaparro R Ximena, Fischer S Cecilia
Аннотация
INTRODUCTION: Cutaneous manifestations at the time of CF diagnosis are rare.
OBJECTIVE: To describe the case of an infant with an unusual cutaneous presentation of cystic fibrosis.
CASE REPORT: The case is presented of an infant with delayed physical growth at two months, and at the age of four months, presented with a skin rash and gray hair. Tests revealed the presence of hypoproteinemia and anemia, with the diagnosis of Cystic Fibrosis being confirmed by genetic testing. The rash was completely resolved after pancreatic enzyme replacement therapy. This is the second gray hair case reported in children with this disease.
CONCLUSION: Metabolic diseases such as cystic fibrosis should be suspected in malnourished children who develop skin disorders.
OBJECTIVE: To describe the case of an infant with an unusual cutaneous presentation of cystic fibrosis.
CASE REPORT: The case is presented of an infant with delayed physical growth at two months, and at the age of four months, presented with a skin rash and gray hair. Tests revealed the presence of hypoproteinemia and anemia, with the diagnosis of Cystic Fibrosis being confirmed by genetic testing. The rash was completely resolved after pancreatic enzyme replacement therapy. This is the second gray hair case reported in children with this disease.
CONCLUSION: Metabolic diseases such as cystic fibrosis should be suspected in malnourished children who develop skin disorders.