Papillon‐Lefèvre or Haim‐Munk Syndrome? Report on Two Sisters in a Consanguineous Family

Dababneh, Reem; Jebrin, Sami E.; Khouri, Antwan T.; Bissada, Nabil F.

doi:10.1902/cap.2014.130089

Cited by 2 publications

(1 citation statement)

References 31 publications

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“…The skin appears dry, rough, flaky, cracked with crustations (unpublished image) and pelvis were normal [90] . Other specific blood analysis of immunoglobulin's IgA, IgG and IgM [92] and lymphocyte antigen receptors was within normal values [92,93] .…”

Section: Hematological Investigationmentioning

confidence: 84%

Papillon-Lefèvre syndrome: from then until now

Hattab¹

2019

SDS

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Papillon-Lefévre syndrome (PLS) is a very rare autosomal recessive trait characterized by palmoplantar hyperkeratosis and severe generalized early-onset periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the disorder is multifactorial with genetic, immunological, and microbial factors playing a major role. Other significant factors involved are environmental and reduced host defense mechanism. Consanguinity is a contributing factor because of its relevance to clinical genetics. The genetic defect underlying etiology of PLS is mutations of the gene 11q14-q21encoding for cathepsin C, an enzyme involved in a variety of inflammatory and immune processes. Virulent pathogens and their toxins in the subgingival plaque play a major factor in the initiation and progression of PLS periodontitis. Dysfunction of leukocytes is secondary causative factor. Variable clinical expression, late onset of symptoms, and frequent gene mutations reflect the complexity of the syndrome. Today, over 300 cases been reported in dental and medical literature with more cases discovered among Arabs, Indians, and Africans. About 20%-25% of patients with PLS have increased susceptibility to infections besides overwhelming destructive periodontitis. Management of the disorder directed toward halting periodontal destruction by eliminating the reservoir of causative organisms; using conventional periodontal treatment, oral hygiene instructions, antiseptic mouth rinses; and systemic antibiotic. Skin lesions usually treated with topical application of emollients, keratolytic agents, steroids, and oral retinoid. Any attempt to achieve and preserve healthy oral conditions will improve quality of life in patients with this intriguing syndrome.

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Section: Hematological Investigationmentioning

confidence: 84%

Papillon-Lefèvre syndrome: from then until now

Hattab¹

2019

SDS

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Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

Dababneh¹

2013

Dentistry

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Palmoplantar keratodermas (PPK) include a heterogeneous group of disorders with overlapping clinical features. The main aspect of PPK is thickening and hyperkeratosis of the palmar and plantar skin, that may be hereditary or acquired; diffuse, focal, or punctuate; and transgrediens or progrediens. PPKs are further distinguished by their mode of inheritance and by the presence of certain associated clinical features. Periodontitis was reported in association with more than one syndrome characterized by PPK. An extensively reported one is the Papillon-Lefévre syndrome (PLS) which is characterized by early onset of PPK and periodontitis affecting the primary and secondary dentitions. In addition to PLS, Haim-Munk, HOPP, Variant Carvajal and Weary-Kindler are other syndromes manifested by PPK and reported in association with severe periodontitis. Atypical cases of PLS were also reported, such as partial expression or a late presentation of the syndrome. The aim of this article is to critically review the literature concerned with Papillon-Lefévre syndrome in its typical and atypical clinical presentation, in addition to other syndromes manifested at the same time by PPK and severe periodontitis.Thorough history and medical examination, together with periodontal, dermatologic, and genetic counseling, are important to exclude other existing medical conditions or other syndromes that might need special attention and care.

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Papillon‐Lefèvre or Haim‐Munk Syndrome? Report on Two Sisters in a Consanguineous Family

Cited by 2 publications

References 31 publications

Papillon-Lefèvre syndrome: from then until now

Papillon-Lefèvre syndrome: from then until now

Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

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