Acrokeratosis verruciformis

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Classification according to ICD-10
Q82.8 Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

The Verruciformis Acrokeratosis is a rare congenital skin disorder with an incipient already in children, the lower extremities concerned keratinization and flat wart-like changes.

The extent to which it is an independent disease or just a variant of Darier's disease is not treated uniformly.

Synonyms are: Hopf keratosis; Hopf syndrome; Acrokeratosis verruciformis Hopf

The name refers to the author of the first description from 1931 by Gustav Hopf .

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

Of the disease are mutations in ATP2A2 - gene on chromosome 12 locus q24.11 based, which for the sarco (endo) plasmic reticulum Ca2 + ATPase2 ( SERCA encodes 2).

This gene is also affected in Darier's disease , so it is likely to be an allelic disease.

Apparently there are different mutations.

Clinical manifestations

Clinical criteria are:

  • Beginning in the first years of life
  • Cornification disorder with flat warts ( Verruca plana )
  • Lower extremity affected
  • similar to Darier's disease, but milder form without dyskeratoses and without acantholysis

The development of a squamous cell carcinoma is possible

Differential diagnosis

In addition to Darier's disease, flat warts in adolescents, spiked warts , epidermodysplasia verruciformis , lichen planus , acrokeratoelastoidosis, porokeratoses and stucco keratoses are to be distinguished .

literature

  • B. Behera, N. Prabhakaran, S. Naveed, R. Kumari, DM Thappa, D. Gochhait: Dermoscopy of acrokeratosis verruciformis of Hopf. In: Journal of the American Academy of Dermatology. Vol. 77, No. 2, August 2017, pp. E33 – e35, doi: 10.1016 / j.jaad.2017.01.003 , PMID 28711099 .
  • O. Hafner, F. Vakilzadeh: Acrokeratosis verruciformis-like changes in Darier's disease. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 48, No. 8, August 1997, pp. 572-576, PMID 9378638 .

Individual evidence

  1. ↑ a b Acrokeratosis verruciformis. In: Orphanet (Rare Disease Database).
  2. ↑ a b Encyclopedia Dermatology
  3. ↑ a b c emedicine, medscape
  4. ↑ G. Hopf: About a disseminated keratosis (Akrokeratosis verruciformis) not previously described. In: Dermatologische Zeitschrift, Vol. 60, 1931, pp. 227-250.
  5. ↑ Acrokeratosis verruciformis.  In: Online Mendelian Inheritance in Man . (English)
  6. Jump up ↑ J. Dhitavat, S. Macfarlane, L. Dode, N. Leslie, A. Sakuntabhai, R. MacSween, E. Saihan, A. Hovnanian: Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. In: The Journal of investigative dermatology. Vol. 120, No. 2, February 2003, pp. 229-232, doi: 10.1046 / j.1523-1747.2003.t01-1-12045.x , PMID 12542527 .
  7. ↑ A. Ronan, A. Ingrey, N. Murray, P. Chee: . Recurrent ATP2A2 p (Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. In: American journal of medical genetics. Part A. [electronic publication before printing] May 2017, doi: 10.1002 / ajmg.a.38268 , PMID 28498512 .