Fire mark
| Classification according to ICD-10 | |
|---|---|
| Q82 | Other congenital malformations of the skin |
| Q82.5 | Congenital non-neoplastic nevus |
| ICD-10 online (WHO version 2019) | |
The fire mark ( Naevus flammeus ) is a benign skin change that takes on a dark red to reddish purple color, which is why it is often referred to colloquially as "port wine stain". This comes from the English, where the fire mark is actually called port-wine stain .
origin
The fire mark is based on a congenital malformation. The fine blood vessels that run beneath the epidermis are increased and widened, which causes the reddish color due to the blood filling of the vessels. Most venous vessels are affected. In most cases, the fire mark appears before or shortly after the birth and no further growth occurs later. Presumably due to the increased blood flow, there is often benign soft tissue and bone overgrowth, which can sometimes be very pronounced.
In a DNA sequencing - study of the examined biopsies from a port wine stain was found in 92% somatic mosaic - mutation with replacement of one base pair ( single nucleotide polymorphism : p.Arg183Gln c.548G → A, on chromosome 9q21) in the gene GNAQ that encodes the protein Gα q , a protein of the q class of the G protein α subunits, which is used for intracellular signal transmission from G protein-coupled receptors to other effector proteins. The arginine at site 138 is conserved in all twenty human G-protein α subunits. It is located in the GTP binding pocket and plays an important role in GTP hydrolysis . The mutation reduces the GTPase activity and increases the GTP signal activity.
Similar activating somatic GNAQ mutations were also found in blue nevi and in nevus Ota . If melanocytic nevi are found in the same place as a stain of fire, it is a question of phakomatosis pigmentovascularis , which was originally described in association with Sturge-Weber syndrome , which in turn usually also has an activating somatic GNAQ mutation.
frequency
An extensive fire mark occurs in about 0.2-0.3% of all newborns. In contrast, the smaller variant, the so-called stork bite , is significantly more common at 60 to 70%. The fire mark is the most common vascular malformation in children.
Appearance and location
The fire mark is either present from birth or develops in early childhood. It usually occurs singly; several spots can also flow together. The size varies: the spots can be small or cover entire parts of the body. The fire mark is particularly common on the face, neck or forehead.
In contrast to the stork bite, a fire mark does not usually recede, but rather becomes darker in adulthood. Over time, small nodules (24%) and thickenings (11%) can form in the area of the mark.
therapy
While a purely cosmetic covering of the fire mark is often expensive and rarely leads to a satisfactory result, there is also the option of laser therapy. Nowadays, a so-called flash lamp pumped will allocate dye laser (Flashlamp pumped dye laser, FPDL) used. Scarring is rare with this procedure. Such treatment can last for several years. A total of up to ten sessions are necessary, between which there should be a break of about two months for healing.
Research is currently underway to determine whether the addition of drugs to laser therapy improves the outcome of the therapy.
Syndromes
The stain of fire can in some cases be an indication of another disease. Up to 30 syndromes have so far been linked to the occurrence of a fire mark:
- The eyes, meninges and brain can also be involved in Sturge-Weber syndrome . Affected children can suffer from epileptic seizures , glaucoma and mental retardation. If there is a fire mark on the face, the risk of Sturge-Weber syndrome is 6%. If the fire mark is in the innervation area of the first trigeminal branch , the ophthalmic nerve , the risk increases to 26%.
- The Klippel-Trénaunay-Weber syndrome is a syndrome that is associated with partial giant growth of the trunk or extremities. In addition, there can be causal malformations of the deep blood and lymphatic system.
- The Maffucci syndrome is also associated with extensive vascular malformations. In addition, many benign bone tumors occur ( enchondromatosis ).
Famous people
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Mikhail Gorbachev is one of the best-known personalities who wear a fire mark - which, against better knowledge, was often referred to in the media as a “ mole ”, especially during his politically active time .
See also
literature
- Bernard A. Cohen: Pediatric Dermatology. Textbook and atlas. 2nd Edition. Elsevier et al., Munich et al. 2007, ISBN 978-3-437-24250-2 .
Individual evidence
- ↑ Matthew D. Shirley, Hao Tang, Carol J. Gallione, Joseph D. Baugher, Laurence P. Frelin, Bernard Cohen, Paula E. North, Douglas A. Marchuk, Anne M. Comi, Jonathan Pevsner: Sturge – Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ . In: New England Journal of Medicine. 2013; Volume 368, Issue 21 of May 23, 2013, pp. 1971-1979; doi: 10.1056 / NEJMoa1213507 .
- ↑ Z. Tannous, N. Rubeiz, AG Kibbi: Vascular anomalies: port-wine stains and hemangiomas. In: J Cutan Pathol. 2010; 37, pp. 88-95.
- ↑ MH Klapman, JF Yao: Thickening and nodules in port-wine stains. In: J Am Acad Dermatol. 2001; 44, pp. 300-322.
- ↑ CJ Chang, YC Hsiao, MC Mihm Jr, JS Nelson: Pilot study examining the combined use of pulsed dye laser and topical imiquimod versus laser alone for treatment of port wine stain birthmarks. In: Lasers in Surgery and Medicine 2008; 40, pp. 605-610.
- ↑ AM Tremaine, J. Armstrong, YC Huang, L. Elkeeb et al: Enhanced port-wine stain lightening achieved with combined treatment of selective photothermolysis and imiquimod. In: J Am Acad Dermatol. 2012; 66, pp. 634-641.
- ↑ TL Phung, DA Oble, W. Jia, LE Benjamin et al .: Can the wound healing response of human skin be modulated after laser treatment and the effects of exposure extended? Implications on the combined use of the pulsed dye laser and a topical angiogenesis inhibitor for treatment of port wine stain birthmarks. In: Lasers in Surgery and Medicine 2008; 40, pp. 1–5.
