DefinitionThis section has been translated automatically.
Hereditary or sporadically acquired cornification disorder of the palms and soles. Acquired PCD usually occurs later in life, has no genetic background, and can usually be further attributed etiopathogenetically by a subtle history. A hereditary PKK will be suspected if the first manifestation occurs in early childhood, a positive family history, resistance to therapy and a permanently present clinical picture are present.
ClassificationThis section has been translated automatically.
According to clinical spectra, hereditary palmoplantar keratoses can be divided as follows:
- Keratosis palmoplantaris diffusa with mutations in KRT 1 (Keratosis extremitatum hereditaria transgrediens et progrediens type Greither)
- Keratosis palmoplantaris diffusa with mutations in KRT 9 (Keratosis palmoplantaris diffusa circumscripta Unna-Thost (mutation of the KRT9 gene)
- Keratosis palmoplantaris cum degeneratione granulosa -type Vörner (mutation of KRT9/1 gene)
- Keratosis palmoplantaris transgrediens et progrediens with mutations in SLURP1 (Mal de Meleda; mutation of the SLURP1 gene)
- Keratosis palmoplantaris with scleratrophy (Huriez syndrome)
- Keratosis palmoplantaris with mutations in connexin 26
- Bart-Pumphrey syndrome with mutations in connexin 26 (GJB2 gene)
- Keratosis palmoplantaris, aquagenic, diffuse, with mutation in AQP5 (Bothnia type) (mutation of AQP5 gene aquaporin)
- Keratosis plamoplantaris type Nagashima (mutation of SERPINB7 gene)
- Loricrin keratoderm (mutation in the loricrin gene)
Clericuzio-type poikiloderma with neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene located on chromosome 16q13.
Diffuse mutilating PKK
- Keratosis palmoplantaris mutilans -Vohwinkel syndrome- mutation of GJB2 gene - connexin 26).
- Loricrin keratoderm - ichthyosiform variant of Vohwinkel syndrome also Camisa syndrome (mutation of LOR gene)
- Olmsted syndrome - mutating PKK with perioral, perianal hyperkeratosis and enoral leukokeratosis (mutaion: TRPV3 gene)
- Keratosis linearis-Ichthyosis congenita-Keratoderma with mutations in POMP (click syndrome; transgressive palmoplantar keratosis with transgression on flexor sides of larger joints)
- Keratosis palmoplantaris papulosa with mutation in AAGAB (Keratosis palmoplantaris papulosa - Buschke-Fischer-Brauer)
- Acrokeratoelastoidosis (Punctate palmoplantar keratosis type3)
- Keratosis palmoplantaris striata with mutations in desmoglein 1 (old: Keratosis palmoplantaris striata -Brünauer-Fuhs-Siemens)
- Keratosis palmoplantariswith mutations in desmoplakin (Carvajal sydrome)
- Keratosis palmoplantaris with mutations in plakophilin 1(ectodermal dysplasia skin fragility syndrome)
- Incontinentia pigmenti, Franceschetti-Jadassohn-Naegeli type - Naegelie-Franceschetti syndrome-Jadassohn syndrome (mutation of KRT14 gene)
- Pachyonychia congenita with mutations in KRT6A/16) (Jadassohn-Lewandowski syndrome)
- Pachyonychia congenita with mutations in KRT6B/17) (Jackson-Lawler syndrome)
- Keratosis palmoplantaris diffusa with mutations in cathepsin C (Papillon-Lefèvre syndrome)
- Schöpf-Schulz-Passarge syndrome with mutation in WNT10A (palmoplantar keratosis with eyelid cysts,hypodentia and hypotrichosis .
Other and syndromic PKK
- Keratosis palmoplantaris with sp inykeratoses (Spiny Keratoderma)
- Keratosis palmaris et plantaris cum surditate congenita et leuconychia totalis unguium (Schwann syndrome)
- Keratosis palmoplantaris with tyrosinemia with mutation in TAT (Richner-Harnhard syndrome)
- Keratosis palmoplantaris with hypotrichosis
- Keratosis palmoplantaris withesophageal carcinoma (Howel-Evans syndrome) with mutation in iRHBDF2
- Keratosis palmoplantaris with clock glass nails and bone hypertrophy
- Keratosis palmoplantaris with hypopigmentation (Cole Disease)
- Keratosis palmoplantaris with mutations in plakoglobin (Naxos syndrome)
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DiagnosisThis section has been translated automatically.
Clinical: The following aspects are indicative for PPK: beginning in childhood, positive FA, cosanguinity of the parents. Infection of other organ systems: hair, nails, hyperhidrosis, blistering, hearing and vision problems; neurological symptoms; resistance to therapy.
Genetic: The various Although the various forms of PKK are genetically very variable, they usually involve genes that code for epidermal structural proteins or different types of proteins. These genes code for epidermal structural proteins or control various processes during epidermal differentiation.
Differential diagnosisThis section has been translated automatically.
Differentially, all acquired palmoplantar keratoses are significant:
- Psoriasis palmoplantaris
- Hyperkeratotic-rhagadiform (tylotic) hand eczema
- Sezary syndrome
- Verrucae (viral warts)
- Pits in Darier's disease
- Psoriasis palmoplantaris (stripy or circumscribed roundish)
- Syphilitic clavi
TherapyThis section has been translated automatically.
A cure for the genetically caused PKK is currently not possible. Symptomatic therapy is indicated according to the individual clinical pictures. See under the individual clinical pictures.
LiteratureThis section has been translated automatically.
- Blaydon DC et al (2013) Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet 93:330-335
Brown-Falco M(2018) Ichthyoses. In: Braun-Falco`s Dermatology, Venereology Allergology G. Plewig et al (eds) Springer Verlag pp 1092-1093.
Dahlqvist J et al (2010) A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet 86:596-603.
Has C et al (2016) Keratosis palmoplantaris: clinical and genetic aspects JDDG 14: 123-142.
- Schiller S et al (2014) Palmoplantar keratoses (PKK): acquired and genetic causes of a not so rare condition. JDDG 12: 781-793
Incoming links (53)Anhidrotic ectodermal dysplasia; Autosomal recessive ichthyosis lamellosa with transglutaminase deficiency; Basal cell nevus syndrome; Berlin syndrome; Brünauer syndrome; Capdepont, m.; Costello syndrome; DSP Gene; Ectodermal dysplasia ; Ectodermal dysplasia-skin fragility syndrome; ... Show all
Outgoing links (34)Aquagene palmoplantar keratoderma; Ectodermal dysplasia-skin fragility syndrome; Hyperhidrosis (overview); Hyperkeratoses; Keratosis linearis-ichthyosis congenita-keratoderma with mutations in pomp; Keratosis palmaris et plantaris cum surditate congenita et leuconychia totalis unguium; Keratosis palmoplantaris diffusa with mutations in cathepsin c; Keratosis palmoplantaris diffusa with mutations in KRT 9; Keratosis palmoplantaris striata with mutations in desmoglein 1; Keratosis palmoplantaris transgrediens et progrediens with mutations in slurp1; ... Show all
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.