Disease Information for Papillion-Lefevre syndrome

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Clinical Manifestations
Signs & Symptoms
Dysplasia Toenails
Excess Sweating Children
Fissuring palms/soles
Hyperhidrosis/Chronic sweating excess
Hyperkeratosis/palms and soles
Hypertrophy nails/Onychogryposis
Palmar keratosis
Plantar hyperkeratosis/sign
Rash hand/foot areas
Sweating Excess Perspiration
Carious teeth/child
Carious teeth/sign
Eroded teeth
Loose teeth/falling out
Premature loss of teeth
Teeth malformed/dysplastic
Long thin fingers/toes (arachnodactyly)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/1-5 years old
Demographics & Risk Factors
Established Disease Population
Patient/Edentulous patient/status
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Diagnostic Test Results
X-RAY
Xray/Dental Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acro-osteolysis
Dental caries
Dental deformities/anomalies
Flat feet/pes planus
Gingivitis
Impetigo/Pyoderm
Keratoderma palmaris
Nail dystrophy
Onycholysis
Papillion-Lefevre syndrome
Periodontitis in children
Periodontitis/periodontal disease
Plantar callous/palmar callous keratosis
Pyoderm
Skin infections
Teeth enamel hypoplastic
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Skin disorder (ex)
CLASS/Teeth/dental involvement/disorder (ex)
Pathophysiology
Pathophysiology/Deficit enzyme cathepsin C
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 11q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus/long arm chromosome 11 (11q14)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Gene Cathespin C Mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary developmental disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Disease Papillon Lefevre, Juvenile periodontosis with hyperkeratosis, KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA, PALS, PAPILLON LEFEVRE DIS, Papillon Lefevre Disease, Papillon Lefevre Syndrome, Papillon Lefèvre syndrome, Papillon Lefevre syndrome (disorder), Papillon Lefèvre syndrome (disorder), Periodontosis Papillon Lefebvre syndrome, PLS, Syndrome Papillon Lefevre, Synonym/Cochin-Jewish Disease, Synonym/Haim-Munk syndrome, Synonym/Palmar-plantar hyperkeratosis periodontal destruction, Synonym/Palmoplantar keratoderma with periodontosis, Synonym/PLS
Definition

Papillon Lefevre Syndrome; Hyperkeratosis Palmoplantaris with Periodontosis; Keratoris Palmoplantaris with Periodontopathia; Palmar-plantar Hyperkeratosis and Concomitant Periodontal Destruction; Palmoplantar Keratoderma with Periodontosis; Papillon-Lefevre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age; PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles (palmar-plantar hyperkeratosis) in association with severe inflammation and degeneration of the structures surrounding and supporting the teeth (periodontium); The primary (deciduous) teeth frequently become loose and fall out by about age five; Without treatment, most of the secondary (permanent) teeth may also be lost by approximately age 17; Additional symptoms and findings associated with PLS may include frequent pus-producing (pyogenic) skin infections, abnormalities of the nails (nail dystrophy), and excessive perspiration (hyperhidrosis); Papillon-Lefevre Syndrome is transmitted as an autosomal recessive trait; Genetic analysis of several affected families (kindreds) suggests that the disorder may result from changes (mutations) of a gene that regulates production of an enzyme known as cathespin C; The gene is located on the long arm (q) of chromosome 11 (11q14)----------- [NORD 2005]-----------

Papillon-Lefèvre syndrome; Mal de Meleda; Meleda syndrome (misnomer); Hyperkeratosis palmoplantaris and premature periodontoclasia; hyperkeratosis palmoplantaris-peridontoclasia syndrome; keratodermia palmo-plantaris diffusa Papillon-Lefèvre; keratosis palmoplantaris-periodontopathia syndrome; keratosis palmoplantaris with periodontopathy; palmoplantar hyperkeratosis-periodontitis syndrome; Symptoms and signs appearing within first 4 years of life include hyperkeratosis of palms and soles, usually diffuse type, seldom punctate type, generally not severe, similar to those of Meleda syndrome; In some cases, lesion more severe in winter and receding or disappearing during summer; Periodontosis becomes evident as soon as the last deciduous tooth has erupted, the teeth being involved in the sequence in which they erupt; Sometimes calcification of the choroid plexus and tentorium; Premature exfoliation of the teeth; The syndrome is considered a variant of mal de Meleda, and is inherited as an autosomal recessive trait

-----[whonamedit_com 2005]---------

Close mimic ??

Cochin Jewish Disorder is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis); Periodontosis usually results in the premature loss of teeth; Additional features associated with the disorder may include flat feet (pes planus); abnormally long, slender fingers and toes (arachnodactyly); loss of bone tissue at the ends of the fingers and/or toes (acroosteolysis); and/or other physical findings; Cochin Jewish Disorder is inherited as an autosomal recessive trait

---------------[NORD 2005]----------------------------

HAIM-MUNK SYNDROME; KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS; COCHIN JEWISH DISORDER

Gene map locus 11q14_1-q14_3

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External Links Related to Papillion-Lefevre syndrome
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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