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Papillon-Lefèvre syndrome associated with pseudoainhum

2004; Elsevier BV; Volume: 51; Issue: 2 Linguagem: Inglês

10.1016/j.jaad.2004.03.021

1097-6787

Asher Ahmed Mashhood, Agha Humayun, Muhammad Saleem, Imran Arshi,

Parvovirus B19 Infection Studies

To the Editor: Papillon-Lefèvre syndrome is an inherited disorder of keratinization characterized by transgradient keratoderma, periodontosis, and a tendency to frequent pyogenic infections. Pseudoainhum is a rare acquired or congenital disorder characterized by progressive development of fibrotic bands on fingers or toes that may lead to secondary amputation unless treated promptly. We are reporting a case of Papillon-Lefèvre syndrome associated with pseudoainhum. To our knowledge this association has not been reported previously. A 5-year-old boy was seen in our department, with a 4-year history of thickening of the skin of palms and soles and scaling and redness involving both legs up to the knees. The patient suffered from recurrent upper respiratory tract infections. The patient was the eldest of the 4 siblings. The parents were first cousins. On examination, the skin of palms and soles was thickened. Psoriasiform scaling and erythema involved the dorsa of hands, feet, and legs up to the knee (Fig 1). Multiple constricting bands were present in the fingers of both hands, and the bands on his left thumb were the most pronounced (Fig 2). There was a loss of multiple incisors and premolars from both the upper and lower jaws (Fig 3). Considering the diagnosis of Papillon-Lefèvre syndrome, the child was placed on acitretin, 0.5-mg/kg body weight. He showed a significant improvement after 4 weeks of therapy with resolution of digital swelling, peudoainhum, and psoriasiform rash.Fig 2Pseudoainhum on the left thumb.View Large Image Figure ViewerDownload (PPT)Fig 3Face of patient showing loss of teeth.View Large Image Figure ViewerDownload (PPT) Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal disease. It affects both sexes and all races. Parental consanguinity is common. The disease is caused by mutation in the cathepsin C gene (CTSC) which has been correlated with significant decrease in enzyme activity of CTSC protease enzyme.1.Zhang Y Hart P.S Moretti A.J Bouwsma O.J Fisher E.M Dudicek L et al.Biochemical and mutational analyses of cathepsin C gene (CTSC) in three North American families with Papillon-Lefèvre syndrome.Hum Mutat. 2002; 20: 75Crossref PubMed Scopus (40) Google Scholar There is a decrease in neutrophil phagocytosis and impaired reactivity of T- and B-cell mitogens. 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