Phacomatosis pigmentokeratoticaQ85.8
Synonym(s)
phacomatosis pigmentokeratotica
DefinitionThis section has been translated automatically.
Combination of a systematized nevus sebaceus and a systematized nevus spilus. Characteristic associations are:
- hemiatrophy with muscle weakness
- segmental dysesthesia
- segmental hyperhidrosis
- epilepsy and deafness
- Ptosis
- strabismus.
EtiopathogenesisThis section has been translated automatically.
Genetically, this phacomatosis is based on a non-allelic didymosis(twin spots). Postzygotic HRAS mutations are also found in phacomatosis pigmentokeratotica both in the nevus sebaceus and in the melanocytic nevus portion (here in the melanocytes) (Groesser L et al. 2013).
LiteratureThis section has been translated automatically.
- Groesser L et al (2013) Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in
amultipotent progenitor cell. J Invest Dermatol 133:1998-2003. - Happle R (1996) Phacomatosis pigmentokeratotica: A melanocytic-epidermal twin nevus syndrome. Am J Med gene 65: 363-365
- Saraswat A et al (2003) Phacomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. Br J Dermatol 148: 1074-1076