Search

Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder caused by a deficiency in Cathepsin C. It is characterized by palmoplantar keratosis and premature loss of both primary and permanent dentition. Patients are often edentulous at an early age. Other symptoms include increased susceptibility to infections. Various etiologic factors such as genetic mutations, immunologic alterations, and bacteria have been implicated. We present a case report of 12-year-old female who reported to the dental clinic with a history of pain and swollen gums. Family history revealed consanguinity. On clinical examination, there was palmoplantar keratosis and examination of the oral cavity showed generalized periodontal pockets, tooth mobility, and periodontal abscess. Radiographic examination revealed generalized horizontal bone loss. Lateral cephalogram revealed retarded somatic development. A diagnosis of PLS was arrived based on history, clinical and radiological findings. Nonsurgical periodontal treatment along with the treatment of skin lesions was performed. A combined and intensive mechanical and antimicrobial treatment with supportive periodontal treatment in PLS patients may halt the periodontal disease progression. The dentists should be aware of the same because an early diagnosis of the syndrome can help to preserve the teeth by the timely institution of treatment, using a multidisciplinary approach. [ABSTRACT FROM AUTHOR]

Papillon-Lefèvre syndrome (PLS) is a rare genetic disorder characterized by palmoplantar keratosis and premature loss of primary and permanent dentition. Its onset can be as early as 1-4 years of age. The genetic disorder is mutation in the cathepsin C gene. Hereby, we discuss the fabrication of Cu-sil dentures for the prosthetic rehabilitation of a 14-year-old girl with PLS. The case report describes the procedure and associated relevant information regarding the management protocols. [ABSTRACT FROM AUTHOR]

Papillion-Lefevre Syndrome is a rare autosomal recessive disorder characterized by severe early onset periodontopathia and palmoplantar hyperkeratosis leading to premature loss of primary and permanent dentition. PLS is caused by mutations in cathepsin C (CTSC) gene. It is transmitted with an estimated frequency of one to four per million individuals. In this case report, we present clinical and other relevant investigations of three siblings with symptoms typical of Papillion-Lefevre Syndrome. The three siblings were born of a second-degree consanguineous marriage, where the parents were first cousins. All the siblings reported with mobility, eventually leading to loss of teeth and masticatory inefficiency. All showed hyperkeratosis of palms and soles, with youngest sibling showing mild to severe form of severe generalized periodontal destruction. The elder two siblings were given dentures. The youngest sibling is undergoing periodontal therapy and has received partial dentures for missing teeth. [ABSTRACT FROM AUTHOR]

Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome. [ABSTRACT FROM AUTHOR]