Porokeratosis

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q82.8 Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

A porokeratosis (from ancient Greek πόρος poros , pore 'and κέρας keras , Horn') is a group of diseases of acquired or congenital keratinization of the epidermis with formation of a kornoiden blade (obliquely a superior of the epidermis chimney-shaped horn cone).

Synonyms for the "classic" form are: Parakeratosis Mibelli ; Latin Parakeratosis anularis; Parakeratosis centrifugata excentrica; Keratoma excentricum , English Mantoux 'syndrome .

The name refers to the first author of the first description from 1893 by the Italian dermatologist Vittorio Mibelli (* February 18, 1860 in Portoferraio, Elba, † April 26, 1910 in Parma).

distribution

The frequency is unknown; the inheritance is autosomal dominant .

Classification

A distinction is made between numerous forms, depending on the underlying cause:

  • Porokeratosis 1 ("Classical" form; Mibelli type; POROK1; Porokeratosis Mibelli ; Porokeratosis superficialis disseminata actinica )
  • Porokeratosis 2 (Porokeratosis palmaris et disseminata), localization palmar, plantar and disseminated, with mutations at gene location 12q24.1-q24.2
  • Porokeratosis 3 (disseminated, actinic, superficial), with mutations in the MVK gene at locus 12q24.11
  • Porokeratosis 4 (disseminated, actinic, superficial), with mutations at gene location 15q25-q26.1
  • Porokeratosis 5 (disseminated, actinic, superficial), with mutations at the gene location 1p31.3-p31.1
  • Porokeratosis 6 (disseminated, actinic, superficial)
  • Porokeratosis 7 (disseminated, actinic, superficial), with mutations at gene location 16q24.1-q24.3
  • Porokeratosis 8 (disseminated, actinic, superficial), with mutations in the SLC17A9 gene at locus 20q13.33

Types 3–8 can be summarized as porokeratosis, actinic disseminated superficial .

The special form porokeratosis, palmoplantar, type Mantoux is now listed as palmoplantar keratosis, dotted, type II .

Clinical manifestations

Clinical criteria for the "classic" form are:

  • Single or multiple lesions, sharply circumscribed, possibly garland-shaped, also scaly
  • Start at any age
  • Localization on the trunk , the extremities also on the mucous membranes
  • Initially verrucous papules , then peripheral expansion, central depression, formation of a marginal wall with horn ridge
  • Slow emergence and spread with spontaneous regression

Different forms can also occur together in one patient ; they are found in people with immune deficiencies , especially after organ transplants .

pathology

Histologically, there are cornoid lamellae with flattened epidermis and often central lymphohistiocytic infiltrates.

forecast

The overall prognosis is favorable, but less than 10% have the possibility of malignant transformation , mainly into squamous cell carcinoma .

See also

literature

Individual evidence

  1. ↑ a b Derma-net-online ( memento of the original from November 20, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and not yet checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / www.derma-net-online.de
  2. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ↑ Who named it Mibelli Syndrome
  4. ↑ Who named it Mibelli
  5. ↑ V. Mibelli: Contributo alla studio della ipercheratosi dei canali sudoriferi (porokeratosi). In: Giornale Italiano delle Malattie veneree e della pelle , Torino, 1893, Vol. 28, pp. 313-355.
  6. ↑ Porokeratosis. In: Orphanet (Rare Disease Database).
  7. ↑ Porokeratosis 1.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Porokeratosis Mibelli. In: Orphanet (Rare Disease Database).
  9. ↑ Porokeratosis 2.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Porokeratosis palmaris et disseminata. In: Orphanet (Rare Disease Database).
  11. ↑ Porokeratosis 3rd  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ Porokeratosis 4.  In: Online Mendelian Inheritance in Man . (English)
  13. ^ Porokeratosis 5th  In: Online Mendelian Inheritance in Man . (English)
  14. ↑ Porokeratosis 6.  In: Online Mendelian Inheritance in Man . (English)
  15. ↑ Porokeratosis 7.  In: Online Mendelian Inheritance in Man . (English)
  16. ↑ Porokeratosis 8th  In: Online Mendelian Inheritance in Man . (English)
  17. ↑ Porokeratosis, actinic disseminated superficial. In: Orphanet (Rare Disease Database).
  18. ↑ Palmoplantar keratosis, dotted, type II. In: Orphanet (database for rare diseases).
  19. ↑ a b J. Kanitakis: Porokeratoses: an update of clinical, aetiopathogenic and therapeutic features. In: European Journal of Dermatology : EJD. Vol. 24, No. 5, 2014 Sep-Oct, pp. 533-544, doi: 10.1684 / ejd.2014.2402 , PMID 25115203 (review).