Biomaterial Database

[The Papillon-Lefevre syndrome (keratosis palmoplantaris with periodontopathy). Treatment with etretinate]. 1985

W Wehrmann, and H Traupe, and R Happle

The Papillon-Lefèvre syndrome is an autosomal recessive gene defect characterized by transgredient palmoplantar hyperkeratosis and periodontopathia leading to loss of the teeth. The syndrome is described in a 28-year-old man who had lost all of his teeth at the age of 10 years. Treatment with etretinate resulted in a marked improvement of the palmar and plantar skin lesions.

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
D008297	Male		Males
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
D005050	Etretinate	An oral retinoid used in the treatment of keratotic genodermatosis, lichen planus, and psoriasis. Beneficial effects have also been claimed in the prophylaxis of epithelial neoplasia. The compound may be teratogenic.	B10-9359,Ethyl Etrinoate,Ro 10-9359,Ro-10-9359,Tigason,Tigazon,B10 9359,B109359,Etrinoate, Ethyl,Ro 10 9359,Ro 109359,Ro109359
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.