Palmar-plantar Hyperkeratosis Research Articles

Oral Manifestation of Papillon-Lefevre in Two Siblings

Background: Papillon-Lefèvre Syndrome (PLS) is a very rare genetic disorder (autosomal recessive) that usually affects infants between the ages of one and five years. PLS is characterized by palmar-plantar hyperkeratosis and premature loss of primary and permanent teeth with extensive, severe, and rapid destruction of the alveolar bone, leading to the premature loss of both teeth. Objective: To report on the management of PLS patients. Case: A 9-year-old girl and a 2.5-year-old boy from Nganjukto General Hospital, Pediatric Dentistry Division, RSGM Airlangga University with the main complaints of upper left tooth pain, rocking, difficulty eating, erythematous hyperkeratosis hands and feet, periodontal inflammation, mobility. bad teeth. Case Management: Nine-year-old girl: Teeth #26 and #46 could not be retained and extracted due to buccoversion and severe mobility. Periodontal supportive therapy was periodontal debridement, scaling and root planing and oral hygiene counseling with 0.20% chlorhexidine gluconate. Two-and-a-half-year-old boy: Too young, he is observed every 3 months. It is recommended to take vitamin B complex in appropriate doses and fruit juice as an additional supplement. Conclusion: Intensive periodontal treatment and administration of antibiotics only delays the progression of periodontal disease and cannot be used to prevent primary and permanent teeth. Extensive and repeated prosthodontic treatment is required to provide functional teeth to children during their period of jaw growth.

Papillon-Lefevre syndrome with arachnodactyly and associated aggressive periodontitis

Papillon-Lefevre Syndrome (PLS) is a autosomal recessive genetic disorder. The prevalence of this disorder has been reported to be 1 to 4 per million in the general population. The prime features of PLS include palmar-plantar hyperkeratosis along with premature loss of deciduous and permanent teeth due to aggressive periodontitis. Radiological feature involves severe destruction of alveolar bone giving teeth a typical “floating in air” appearance along with intra-cranial calcifications. Clinical findings of disease specific dermatologic manifestations and periodontal involvement forms the framework of the diagnosis. Clinical significance: As PLS involves severe irreparable destruction of alveolar bone and tooth loss, both dental clinicians and dermatologists opinion is required for both initial and long term management of this disease followed by psychological counselling.

Papillon Lefevre Syndrome: Diagnosis and Management in Two Affected Siblings – A Case Report

Papillon-Lefèvre syndrome (PLS) an autosomal recessive disorder characterized by diffuse transgradient palmar-plantar hyperkeratosis, with premature loss of deciduous and permanent teeth, along with the calcification of the dura mater. This results in teeth radiographically appearing as “floating” in the soft tissue. Genetic studies of patients with PLS have mapped the major gene locus to chromosome 11q24-q21 and revealed mutation and loss of function of the cathepsin gene. It affects 1- 4 people per 1 million population with no gender or racial predilection. Dermatological manifestations, usually occurs before four years of age, include hyperkeratosis of palms and soles, nail dystrophy, hyperhidrosis and keratinization on elbows and knees with the lesions appearing as white, yellow-like or red plaques or patches that then develop cracks, crusts, or deep fissures. KEYWORD: Papillon-lefevre syndrome, hyperkeratosis HOW TO CITE: Zalan AK, Zubairy KK, Maxood A, Niazi M, Zaman H, Gul A, Anser M. Papillon lefevre syndrome: Diagnosis and management in two affected siblings – A case report. J Pak Dent Assoc 2020;29(4):264-268.

Dental prosthetic rehabilitation of Papillon-Lefèvre syndrome: a case report.

Papillon-Lefèvre syndrome (PLS) is a rare disorder characterized by palmar plantar hyperkeratosis and rapidly progressive periodontitis with loss of deciduous and permanent dentition at an early age. It is reported to occur in 1 to 4 individuals per million people. This case report presents highlighting features of the rare PLS in a 17-year old male who complained of discomfort while mastication and it was accompanied with symmetrical, sharply demarcated erythematous plaques involving the skin of the palms and soles, which extended to the finger joints, elbows, and knees. Along with the rough and dry skin, hyperhidrosis of lesion with a foul odor and transverse grooving of nails were noted. The past dental history revealed normal eruption of deciduous teeth followed by pre-mature mobility and shedding in 4-6 months. Permanent teeth also showed normal eruption and early shedding in the next 4-5 years. Complete edentulous maxillary and mandibular arches led to a decrease in alveolar bone and facial heights. There was no similar disorder in the patient’s family but family history revealed the consanguineous marriage of the patient’s parents.

Use of Removable Partial Denture in Child with Papillon-Lefevre Syndrome: Case Report

Background: Papillon-Levefre Syndrome (PLS) is a rare genetic disorder with prevalence of 1-4 cases per millions of birth, characterized by the presence of palmar-plantar hyperkeratosis and rapid periodontal destruction of both the primary and secondary dentition. Purpose: This clinical report described such a rare condition with special attention on its diagnostic characterization, various treatment options and Prosthodontic rehabilitation. Case: Five years-old boy accompanied by his mother came to Pediatric Dentistry Specialist Clinic, Universitas Airlangga Dental Hospital - Surabaya with the chief complaint of gradually loss of upper and lower teeth since the patient was 3 years old. Case Management: Removable partial denture was chosen because it was considered as an appliance that can recover the function of mastication, speech and aesthetic patient. Removable partial denture was designed to replace 51, 52, 53, 54, 55, 61, 62, 63, 64, 65, 72, 73, 74, 75, 82, 83, 84 and 85 with retention on 16, 26, 36 and 46, and anterior bite riser on 31 and 41. Conclusion.Removable partial denture is the treatment of choice for children with PLS who are still in the growth period because it can recover mastication and aesthetic functions, have a good aesthetic, and easy maintenance that could done by the child.

Papillion-Lefèvre Syndrome: Periodontists' Perspective.

Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. The present case report describes a 13-year-old female, who visited the Department of Periodontology with the chief compliant of bleeding gums and loose teeth. She presented with the signs and symptoms of Papillion-Lefèvre Syndrome. The patient had premature shedding of her deciduous dentition. On clinical examination, extraorally, the patient presented with persistent thickening, flaking, and scaling of the skin of palms and soles. Her intraoral examination revealed gingival inflammation, abscess formation, and periodontal pockets. Her intraoral radiographs showed bone loss involving the central incisors and molars. The patient underwent periodontal therapy and is under maintenance.

Prosthetic management of patient with papillon-lefevre syndrome: a clinical report

Papilion Lefevre syndrome is a rare autosomal recessive genetic disorder, which is characterized by palmarplantar hyperkeratosis, with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. This is a case report of prosthodontic rehabilitation of a 14-year-old boy with Papillon-Lefevre syndrome.

Phase Ib/Ii Study of Lee011 (Cdk4/6 Inhibitor) and Lgx818 (Braf Inhibitor) in Braf-Mutant Melanoma

ABSTRACT Aim: Despite improvements in BRAF-mutant melanoma therapy, resistance is problematic. The cyclin D–CDK4/6–INK4A–Rb pathway is frequently dysregulated in melanoma and is associated with reduced BRAF inhibitor (BRAFi) response. LGX818 and LEE011 selectively inhibit BRAF and CDK4/6, respectively. In preclinical models, adding LEE011 to LGX818 delayed BRAFi resistance. This study investigates safety and efficacy of LEE011 and LGX818 in pts with BRAF-mutant locally advanced or metastatic, BRAFi-naive or BRAFi-pretreated melanoma. Methods: Pts receive once-daily LEE011 (3-weeks-on/1-week-off) and LGX818 (continuously). Dose escalation is guided by Bayesian Logistic Regression Model with overdose control principle and real-time PK. Primary objective: MTD and/or RP2D determination. Secondary objectives: safety, PK, and efficacy. Results: As of April 8, 2014, 18 pts received LEE011 and LGX818: 6 at 200/300; 7 at 300/200; 3 at 400/100; 2 at 400 mg LEE011/200 mg LGX818. Median age: 64 (23–81) yrs; median 3 prior regimens: 78% prior BRAFi therapy; 44% prior MEKi therapy (all of whom received prior BRAFi). Two DLTs reported, both at the 200/300 dose (G3 myalgia and G3 conjugated hyperbilirubinemia). Study-drug related (SDR) all-grade AEs (>25%; N = 11): palmar–plantar hyperkeratosis (PPH; 46%); flushing (36%); pruritus (36%); rash (36%); alopecia, dry skin, dysgeusia, fatigue, myalgia, and nausea (27% each). SDR G3/4 AEs observed in 1 pt: PPH, rash, myalgia, and blood bilirubin increase. At steady-state, exposure of LGX818 was increased 1.5-fold and 2- to 3-fold at the 200/300 and 300/200 doses, respectively, compared with single agent (SA). Exposure of LEE011 was unaltered at the 200/300 dose and decreased 0.5-fold compared with SA at the 300/200 dose. Of 9 pts evaluable for response, 2 had PRs (1 BRAFi naive and 1 BRAFi pretreated) and 6 had SD (4 ongoing ≥ 4 cycles, 2 BRAFi naive, 2 BRAFi pretreated). 9 pts remain on treatment. Conclusions: At the 200/300 dose DLTs were observed. At the 300/200 dose, a 2- to 3-fold increase in blood levels of LGX818 compared with historic levels was observed. In latter cohorts, reduced LGX818 and increased LEE011 doses are being tested and appear better tolerated. Clinical signs of activity were observed even in BRAFi-pretreated pts. Dose escalation continues. Disclosure: M. Taylor: has served on a paid advisory board for Onyx. No other conflicts; M.S. Carlino: has received honoraria from Novartis; W. Miller: has worked in a consultancy capacity or on advisory boards for Novartis, Roche, GSK, and BMS; A. Marino: is an employee of Novartis Pharma AG; V. Zhang: is an employee of and holds shares in Novartis Pharma AG; S.G. Bhansali: is an employee of and holds shares in Novartis Pharmaceuticals Corporation; S. Parasuraman: is an employee of and holds shares in Novartis Pharma AG.All other authors have declared no conflicts of interest.

Papillon–Lefèvre syndrome – The prosthodontic management

Papillon–Lefèvre syndrome is a rare autosomal recessive genetic disorder. This is characterized by palmar-plantar hyperkeratosis, with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. This article presents the prosthodontic rehabilitation of a patient with Papillon-Lefèvre syndrome with implant-supported over denture using two dental implants in mandible.

Papillon–Lefevre Syndrome: A Case Report with Review of Literature

Papillon–Lefevre Syndrome(PLS) is a very rare syndrome of autosomal recessive inheritance characterised by palmar plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. The palmar plantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. The exact pathogenesis of these clinical events remains mainly speculative. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. We report a case of 17-year- old female patient withPLS.

Report of a case of Papillon-Lefevre syndrome

Papillon-Lefevre Syndrome is a rare, autosomal recessive disorder. It is characterized by dermatological and periodontal changes that include palmar-plantar hyperkeratosis and generalized aggressive periodontitis in both primary and permanent dentition. Hiam-Munk syndrome and hypophosphatasia are some of its differential diagnoses. Dentists and dermatologists both should be aware of its characteristics which help to have an early diagnosis, a multidisciplinary approach and better prognosis. Here, we present a case of Papillon-Lefevre Syndrome in a 4-year-old girl who was brought to a private dental office with the chief complaint of tooth mobility.

Papillon-Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS.

Papillon-Lefevre syndrome (PLS) is a very rare, autosomal recessive syndrome characterized by palmar-plantar hyperkeratosis and severe destructive periodontitis. Most patients present with PLS harbor mutations in the cathepsin C gene, but recent studies have identified individuals with classic PLS symptoms without such mutations. This suggests more genetic heterogeneity for PLS than previously thought. Here we present an individual's manifesting characteristic clinical features of PLS with no mutations in the coding sequence of cathepsin C. We suggest there must be alternative genetic causes for such forms of PLS.

Papillon–Lefèvre syndrome mimicking psoriasis – A rare case report

Papillon–Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis and severe periodontal destruction involving both the primary and 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 reports a unique case of a patient with Papillon–Lefèvre syndrome (PLS) that was earlier mistaken for psoriasis. The examination revealed severe hyperkeratosis on the hands and feet with associated severe periodontal conditions. The patient was diagnosed with Papillon–Lefèvre syndrome and suitable treatment was initiated.

A rare case of recurrent pyogenic liver abscess since childhood: A case of Papillon-Lefèvre syndrome

Recurrent pyogenic liver abscess since childhood is an uncommon finding in clinical medicine. Papillon-Lefevre syndrome (PLS) is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. Till date, more than 200 cases have been reported worldwide. In addition to the skin and oral findings, patients may have immune suppression and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. Pyogenic liver abscess is an uncommon presentation of this rare syndrome. We present a case of PLS presenting as recurrent pyogenic liver abscess since childhood.

Papillon-Lefevre syndrome-like presentation in chronic arsenicosis: A rare mimicry

Chronic arsenicosis is a major health and occupational problem in rural parts of West Bengal such as in parts of the Gangetic plain of India. Chronic arsenicosis occurs due to accidental ingestion of repeated amounts of small doses by those working with metal or by taking food or drink in which there are traces of arsenic. Chronic exposure may result accumulation in the hair, nail, and skin. Arsenic can also cross the placenta. Papillon-Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis and severe periodontal destruction involving both the primary and permanent dentitions. Until date, more than 200 cases have been reported worldwide. Palmoplantar hyperkeratosis is a major manifestation in both chronic arsenicosis and Papillon-Lefèvre syndrome. We report herein a rare case of chronic arsenicosis in a patient from rural Bengal, whose all features mimic Papillon-Lefèvre syndrome. It is probably the first case of Papillon-Lefevre syndrome-like presentation in chronic arsenicosis from India.

Papillon-Lefèvre syndrome: Case report and review of the literature

Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.

A 3-Year Follow-Up of the Rehabilitation of Papillon-Lefèvre Syndrome by Dental Implants

Papillon-Lefèvre syndrome is a rare autosomal recessive genetic disorder characterized by palmar-plantar hyperkeratosis, with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. This article presents the prosthetic rehabilitation of a patient with Papillon-Lefèvre syndrome with dental implants. Twelve titanium implants were installed in the mandible and maxilla in an 18-year-old male patient with Papillon-Lefèvre syndrome. At 3 years follow-up, all implants were clinically stable and no pain or infection was found. The patient continues to be seen at regular follow-up visits. Twelve-implant installation in Papillon-Lefèvre syndrome with 3 years' follow-up has not claimed before. We not only successfully treated our patient functionally and esthetically with dental implant rehabilitation, but also provided psychological benefits to the patient.

Three cases with papillon-lefevre syndrome

Papillon-Lefevre Syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age. Papillon-Lefevre Syndrome is characterized by the development of palmar-plantar hyperkeratosis and early loss of the primary (deciduous) and permanent teeth due to rapidly progressive periodontopathy. The primary (deciduous) teeth frequently become loose and fall out by about five years of age. In the general population, the disorder occurs in approximately one to 4 individuals per 1.000.000. Here we present a Papillon- Lefevre Syndrome case, which is rarely seen, with a review of the literature.

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

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.

The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants

Although there are currently 62 mutants of Cx43 (connexin43) that can cause ODDD (oculodentodigital dysplasia), only two mutants have also been reported to cause palmar plantar hyperkeratosis. To determine how mutants of Cx43 can lead to this skin disease, REKs (rat epidermal keratinocytes) were engineered to express an ODDD-associated Cx43 mutant always linked to skin disease (fs260), an ODDD-linked Cx43 mutant which has been reported to sometimes cause skin disease (fs230), Cx43 mutants which cause ODDD only (G21R, G138R), a mouse Cx43 mutant linked to ODDD (G60S), a non-disease-linked truncated Cx43 mutant that is trapped in the endoplasmic reticulum (Δ244*) or full-length Cx43. When grown in organotypic cultures, of all the mutants investigated, only the fs260-expressing REKs consistently developed a thinner stratum corneum and expressed lower levels of Cx43, Cx26 and loricrin in comparison with REKs overexpressing wild-type Cx43. REKs expressing the fs260 mutant also developed a larger organotypic vital layer after acetone-induced injury and exhibited characteristics of parakeratosis. Collectively, our results suggest that the increased skin disease burden exhibited in ODDD patients harbouring the fs260 mutant is probably due to multiple additive effects cause by the mutant during epidermal differentiation.