Papillon-Lefevre syndrome: A case report of four affected siblings

Angel, Tiffany A.; Hsu, Sylvia; Kornbleuth, Steven I.; Kornbleuth, Joseph; Kramer, Eva

doi:10.1067/mjd.2002.104968

Cited by 26 publications

(21 citation statements)

References 16 publications

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“…[17] It is expressed at high levels in various immune cells, including polymorphonuclear leukocytes, macrophages and their precursors. [8] The cathepsin C gene is expressed in the epithelial region (palms, soles, knees) and keratinized oral gingiva which is important in the structural growth and development of skin. Subsequently, inactivating mutations were identified in this gene and an almost total loss of cathepsin C activity was shown in patients with PLS.…”

Section: Discussionmentioning

confidence: 99%

Papillon-lefevre syndrome: A combined approach from the dermatologist and dentist - A clinical presentation

et al. 2011

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Papillon–Lefevre syndrome (PLS) is a rare disease characterized by skin lesions, which includes palmar-plantar hyperkeratosis and hyperhidrosis with severe periodontal destruction involving both the primary and the permanent dentitions. It is transmitted as an autosomal-recessive condition, and consanguinity of parents is evident in about one-third of the cases. This paper describes a 13-year-old male patient who presented to the department of pedodontics, with rapidly progressing periodontitis. A general physical examination revealed scaling on the hands and feet, which had been medically diagnosed as PLS. The incidence of this rare entity is increasing in the recent times, which is associated with irreparable periodontal destruction at an early age, with not so prominent skin lesions in some cases. In such instances, the dentist has a more important role in diagnosing, treatment planning and preservation of the periodontal tissues and, at the same time, referring for the treatment of the skin lesions. This paper emphasizes the combined effort of the two specialities in order to maintain skin as well as dental conditions in health by early intervention and a synergistic treatment approach.

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Section: Discussionmentioning

confidence: 99%

Papillon-lefevre syndrome: A combined approach from the dermatologist and dentist - A clinical presentation

et al. 2011

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“…The gene responsible for it has been localized to chromosome 11q14-21 where the cathepsin C gene is, encoding a lysosomal protease, in the interval between D11S4082 and D11S931. Subsequently, inactivating mutations were identified in this gene and an almost total loss of cathepsin C activity was shown in patients with Papillon-Lefevre syndrome (4)(5)(6). An interesting feature of the cathepsin C gene is that mutations in this gene also result in two other closely related conditions: the Haim-Munk syndrome, and prepubertal periodontitis.…”

Section: Discussionmentioning

confidence: 99%

“…An important point to note is that if retinoid therapy is started during the eruption of the permanent teeth, it can result in the development of normal dentition (2,(4)(5)(6)12,13). Thus both the dermatologist and dental professional can help to save the permanent dentition if they diagnose this disease during childhood.…”

Section: Discussionmentioning

confidence: 99%

“…The inheritance is autosomal recessive and consanguinity is a notable feature in many patients. Other features of the syndrome which have been reported less frequently, include psoriasiform plaques of the elbows and knees, nail changes, calcification of the dura, and recurrent pyogenic skin infections (1)(2)(3)(4)(5)(6). This disease usually has its onset between the ages of 1 to 4 years.…”

Section: Introductionmentioning

confidence: 99%

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Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Singla¹,

Sheikh²,

Jindal³

et al. 2010

J Clin Exp Dent

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Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodontitis. Therefore both the dentist and the dermatologist should be aware of the same because an early diagnosis of the syndrome can help to preserve the teeth by early institution of treatment, using a multidisciplinary approach. Here we present a case report of Papillon-Lefevre syndrome, along with a comprehensive review of the etiology, pathology, clinical features, differential diagnosis and management of the condition. .

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“…Papillon-Lefèvre syndrome is a rare disease characterized by skin lesions, which include PPK and hyperhidrosis with severe periodontal destruction involving both the primary and the permanent dentitions [12]. It is transmitted as an autosomal-recessive condition, and consanguinity of parents is evident in about one-third of the cases.…”

Section: Papillon-lefèvre Syndromementioning

confidence: 99%

Hereditary Palmoplantar Keratosis

Kawakami¹

2013

Current Genetics in Dermatology

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Papillon-Lefevre syndrome: A case report of four affected siblings

Cited by 26 publications

References 16 publications

Papillon-lefevre syndrome: A combined approach from the dermatologist and dentist - A clinical presentation

Papillon-lefevre syndrome: A combined approach from the dermatologist and dentist - A clinical presentation

Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Hereditary Palmoplantar Keratosis

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