Disease Information for Papillion-Lefevre syndrome

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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