Phakomatosis pigmentokeratotica

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Classification according to ICD-10
Q85.8 Other phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

The Phakomatosis pigmentokeratotica is a very rare, to the phacomatoses counting special form of the epidermal nevus syndrome with a combination of systematisiertem sebaceous nevus and nevus spilus .

The first description is from 1996 by Rudolf Happle and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, the mode of inheritance is not known.

root cause

As underlying cause has hitherto been a genetic mosaic or a mutation in HRAS - gene with postzygotischer activation of a progenitor cell in the sense of RASopathie.

Clinical manifestations

In addition to the skin changes, there are more and more:

literature

  • Boris N. Gamayunov, Nikolay G. Korotkiy, Elena E. Baranova: Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome ?. In: Clinical Case Reports. Vol. 4, 2016, p. 564, doi: 10.1002 / ccr3.570 .
  • A. Saraswat, S. Dogra, A. Bansali, B. Kumar: Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. In: The British journal of dermatology. Vol. 148, No. 5, May 2003, pp. 1074-1076, PMID 12786855 (review).
  • VA Hill, RH Felix, PS Mortimer, JI Harper: Phacomatosis pigmentokeratotica. In: Journal of the Royal Society of Medicine. Vol. 96, No. 1, January 2003, pp. 30-31, PMID 12519801 , PMC 539370 (free full text).
  • Gianluca Tadini, Lucia Restano, Ricardo Gonzáles-Pérez, M. Antonia Gonzáles-Enseñat, M. Asunción Vincente-Villa, Stefano Cambiaghi, Paolo Marchettini, Massimo Mastrangelo, Rudolf Happle: Phacomatosis Pigmentokeratotica. In: Archives of Dermatology. Vol. 134, 1998, p. 333, doi: 10.1001 / archderm.134.3.333 .

Individual evidence

  1. ↑ a b c Encyclopedia Dermatology
  2. ↑ a b Phakomatosis pigmentokeratotica. In: Orphanet (Rare Disease Database).
  3. ^ R. Happle, R. Hoffmann, L. Restano, R. Caputo, G. Tadini: Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. In: American journal of medical genetics. Vol. 65, No. 4, November 1996, pp. 363-365, doi : 10.1002 / (SICI) 1096-8628 (19961111) 65: 4 <363 :: AID-AJMG27> 3.0.CO; 2-R , PMID 8923953 (review).
  4. ↑ Leopold Groesser, Eva Herschberger, Ana Sagrera, Tor Shwayder, Katharina Flux, Laura Ehmann, Andreas Wollenberg, Antonio Torrelo, Lorea Bagazgoitia, Blanca Diaz-Ley, Sigrid Tinschert, Ilske Oschlies, Sebastian Singer, Marion Mickler, Agusti Toll, Michael Landthaler , Francisco X. Real, Christian Hafner: Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell. In: Journal of Investigative Dermatology. Vol. 133, 2013, p. 1998.

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