Biomaterial Database

Hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefevre syndrome): report of three cases, two occurring in siblings. 1979

S R Prabhu, and D K Daftary, and H M Dholakia

Three cases of palmar-plantar hyperkeratosis with periodontosis, two cases of which occurred in siblings, are reported. The parents were unaffected, and parental consanguinity was present in all three cases. All essential features of the syndrome were present in these cases.

UI	MeSH Term	Description	Entries
D007645	Keratoderma, Palmoplantar	Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).	Hyperkeratosis Palmaris et Plantaris,Keratosis Palmaris et Plantaris,Keratosis, Palmoplantar,Meleda Disease,Palmoplantar Keratoderma,Keratosis Palmoplantaris Transgradiens of Siemens,Mal de Meleda,Disease, Meleda,Keratodermas, Palmoplantar,Keratoses, Palmoplantar,Meleda, Mal de,Palmoplantar Keratodermas,Palmoplantar Keratoses,Palmoplantar Keratosis,de Meleda, Mal
D010214	Papillon-Lefevre Disease	Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.	Haim-Monk Syndrome,Keratosis Palmoplantar Periodontopathy,Keratosis Palmoplantaris with Periodontopathia,Papillon Lefevre Disease,Papillon-Lefevre Syndrome,Haim Monk Syndrome,Keratosis Palmoplantar Periodontopathies,Palmoplantar Periodontopathies, Keratosis,Papillon Lefevre Syndrome
D010510	Periodontal Diseases	Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT.	Parodontosis,Pyorrhea Alveolaris,Disease, Periodontal,Diseases, Periodontal,Parodontoses,Periodontal Disease
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.