Keratosis palmoplantaris diffusa with mutations in cathepsin c Q87.84

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 05.07.2022

Synonym(s)

Hyperkeratosis palmoplantaris with periodontosis; Keratoderma type Papillon-Lefèvre; Keratodermia palmoplantaris diffusa Papillon; Keratodermia type Papillon-Lefèvre; Keratosis palmoplantaris diffusa non circumscripta; Keratosis palmoplantaris with periodontosis; Keratosis palmoplantaris with periodontosis type Papillon Lefèvre; OMIM 245000; Papillon-Lefèvre syndrome

History
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Papillon and Lefèvre, 1924

Definition
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Autosomal recessive inherited keratinization disorder with diffuse transgressive palmoplantar keratoses, peridontitis, dental abnormalities, and susceptibility to infection.

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Etiopathogenesis
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Mutations of the Papillon-Lefèvre syndrome gene(CTSC = Cathepsin C or PLS gene/gene locus: 11q14.1-q14.3). The mutations result in deficiency of a lysosomal protease (cathepsin C, see cathepsins below). Cathepsin C plays an important role in the activation of certain proteases involved in the phagocytosis of bacteria.

A variant of Papillon-Lefèvre syndrome, Haim-Munk syndrome is also caused by mutations in the CTSC gene.

Manifestation
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Development of palmoplantar keratoses within the first 3 years of life; periodontitis usually develops at the age of 5 years.

Clinical features
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Integument: Transgressive diffuse palmoplantar keratosis, sharply demarcated redness of palmae and plantae spreading to dorsum of hands and feet, psoriasiform hyperkeratosis of elbows and knees, hyperhidrosis.

Extracutaneous manifestations: early caries, gingivitis, periodontopathy, alveolar atrophy, tooth loss in deciduous and permanent dentition (Giannetti L et al 2020).

Debility is possible

A slightly different phenotype is described as Haim-Munk variant with the same CTSC mutation. In addition to the PL symptoms, arachnodactyly, acroosteolysis, pes planus and deformities of the fingers are found.

Differential diagnosis
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Keratosis extremitatum hereditaria transgrediens et progrediens; psoriasis inversa; keratosis palmoplantaris diffusa circumscripta; Schuppli syndrome; keratosis palmaris et plantaris cum surditate congenita et leuconychia totalis unguium.

Therapy
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Successes with systemic retinoid therapy( Acitretin) have been reported. Among these, improvement of palmoplantar hyperkeratosis and chronic recurrent periodontitis occurs, so that tooth loss can be avoided. If left untreated, the disease progresses intermittently; no progression, but rather regression at an advanced age. After complete tooth loss the inflammatory processes stop.

Literature
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Al-Khenaizan S (2002) Papillon-Lefevre syndrome: the response to acitretin. Int J Dermatol 41: 938-941
Bergmann R et al (1988) Papillon-Lefèvre syndrome: a study of the long-term clinical course of recurrent pyogenic infections and the effects of etretinate treatment. Br J Dermatol 119: 731-736.
Bork K et al (1980) Extrapalmoplantar skin symptoms and other clinical and etiologic, especially immunologic, aspects of Papillon-Lefèvre syndrome. Dermatologist 31: 179-183
Giannetti L et al (2020) Papillon-Lefèvre syndrome: oral aspects and treatment. Dermatol Ther 33:e13336.
Mortimer NJ et al (2004) Papillon-Lefevre syndrome: successful treatment of peridontitis, and preservation of dentition with acitretin. Br J Dermatol 151(Suppl 68): 44
Pilger U et al (2003) Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. J Am Acad Dermatol 49: S240-243.
Papillon M, Lefèvre P (1924) Dens cas de keratodermie palmaire et plantaire symetrique familale (maladie de meleda) chez le frere et al soeur: co exdistence dans les deux cas d'alterations dentaires groups. Bull Soc Fr Dermatol Syph 31: 82-87.
Ullbro C et al (2003) Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome. J Am Acad Dermatol 48: 345-351.