Epidermolytic palmoplantar keratosis

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Classification according to ICD-10
Q82.8 Hereditary palmoplantar keratosis
ICD-10 online (WHO version 2019)

The Epidermolytic palmoplantar keratosis is the most common form of hereditary palmoplantar keratoses . This hyperkeratosis is sharply demarcated with a red border on the extensor sides of the hands and feet.

Synonyms are: Keratosis palmoplantaris diffusa Vörner; Palmoplantar hyperkeratosis type Vörner; Keratosis palmoplantaris diffusa Vörner-Unna-Thost; Epidermolytic palmoplantar hyperkeratosis, EPPK, Unna-Thost- (Vörner) disease; Latin PPK cum degeneratione granulosa ; English tylosis; Keratosis of Greither

The first description comes from the year 1901 by the German doctor Hans Vörner.

distribution

The frequency is given as at least 4 in 100,000 in Northern Ireland , inheritance is autosomal dominant .

root cause

The disease are mutations in KRT1 or KRT9 - gene on chromosome 12 locus q13.13 or on chromosome 17 locus q21.1 based representative of various keratins encode.

Clinical manifestations

Clinical criteria are:

  • Onset of the disease in the first months of life, full screen at 3 to 4 years
  • Diffuse, sharply delimited cornification disorder, emphasizing the extensor side, sharply delineated with a red border
  • Watch glass nails
  • Characteristic involvement of the Achilles tendons

Sometimes also hyperhidrosis on the palms of the hands or feet

history

A description of a non-epidermolytic form of palmoplantar keratosis by Arthur Thost dates back to 1880 .

Paul Gerson's description of Unna is also regarded as a non-epidermolytic form, so the use of the name "Unna-Thost" for epidermolytic disease should be avoided.

The "Keratosis of Greither" refers to the German dermatologist Aloys Greither . The described clinical picture is now referred to as the “progressive form of PPK”.

literature

  • W. Küster, A. Reis, HC Hennies: Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. In: Archives of dermatological research. Vol. 294, No. 6, August 2002, pp. 268-272, doi: 10.1007 / s00403-002-0328-9 , PMID 12192490 .
  • MZ Mofid, C. Costarangos, SB Gruber, SE Koch: Hereditary epidermolytic palmoplantar keratoderma (Vörner type) in a family with Ehlers-Danlos syndrome. In: Journal of the American Academy of Dermatology. Vol. 38, No. 5 Pt 2, May 1998, pp. 825-830, PMID 9591795 .
  • JM Mascaró, H. Torras, JM Mascaró: A child with unusual palms and soles. Epidermolytic palmoplantar keratoderma (PPK) of Vörner. In: Archives of dermatology. Vol. 132, No. 12, December 1996, pp. 1509, 1512, PMID 8961887 .

Individual evidence

  1. ↑ H. Hamm, R. Happle, T. Butterfass, H. Traupe: Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma? In: Dermatologica. Vol. 177, No. 3, 1988, pp. 138-145, PMID 2971584 (Review).
  2. ↑ Epidermolytic palmoplantar keratosis. In: Orphanet (Rare Disease Database).
  3. ↑ a b Encyclopedia Dermatology
  4. ↑ H. Vörner: On the knowledge of the Keratoma hereditarium palmare et plantare. In: Archive for Dermatology and Syphilis , Vol. 56, pp. 3–31, 1901.
  5. ↑ Genodermatoses
  6. ↑ a b c d emedicine.medscape
  7. ↑ a b Palmoplantar keratoderma, epidermolytic.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ A. Thost: About hereditary ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg, 1880
  9. ↑ PG Unna: About the keratoma palmare et plantare hereditarium. In: Vierteljahresschrift Dermatologie und Syphilis Vol. 15, pp. 231-270, 1883.
  10. ↑ L. Lind, A. Lundström, PA Hofer, G. Holmgren: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. In: Human Molecular Genetics . Vol. 3, No. 10, October 1994, pp. 1789-1793, PMID 7531539 .
  11. ↑ A. Greither: Keratosis extremitatum hereditaria progrediens with dominant inheritance. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 3, No. 5, May 1952, pp. 198-203, PMID 14945735 .

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