Port-wine stain

The port-wine stain or nevus flammeus, is a benign lesion that takes a dark red to reddish purple color, which is why it is also commonly referred to as " port wine stain ". This stems from English, where the port- wine stain birthmark actually means.

Origin

The port wine stain is due to a congenital malformation. Tiny blood vessels that run underneath the epidermis, are propagated and expanded what the reddish color due to the blood filling of vessels. Most venous vessels are affected. In most cases, the port wine stain occurs before or shortly after birth and it is not subsequently to further growth. Presumably through improved circulation it is also often a benign soft tissue and bone overgrowth, which can sometimes be very pronounced.

In a DNA sequencing study showed in 92 % of the examined biopsies from a birthmark a somatic mosaic mutation with replacement of one base pair ( Single Nucleotide Polymorphism: c.548G → A, on chromosome 9q21 p.Arg183Gln ) in the gene GNAQ, the protein Gαq encoding a protein of the q- class of G-protein α - subunit, which serves to further effector for intracellular signal transduction by G- protein-coupled receptors. Arginine at position 138 is conserved in all twenty human G -protein α - subunits. It is the GTP - binding site and plays an important role in the hydrolysis of GTP. By mutation of the GTPase activity is reduced and it results in an increased signal - GTP activity.

Similar activating somatic GNAQ mutations were also found in blue nevi and at Ota's nevus. Melanocytic nevi are found in the same place like a birthmark, it is a Phakomatosis pigmentosum vascularis, which was originally described in association with Sturge -Weber syndrome, which in turn usually also present an activating somatic mutation GNAQ.

Frequency

An extensive wine stain occurs in about 0.2-0.3 % of all newborns before. In contrast, the small variant, the so-called stork bite, with 60-70 % is much more likely.

Appearance and localization

The port wine stain is present either at birth or develops in early childhood. It usually occurs singly; several spots but can also flow together. The size is different: The spots may be small or even cover all parts of the body. Particularly common is the birthmark on his face, in the neck or forehead.

In contrast to the stork bite, a wine stain usually is not declining, but is rather darker in adulthood. In the course of small nodules and induration may form in the region of the times.

Therapy

While a purely cosmetic coverage of the fire is often times expensive and rarely leads to a satisfactory outcome, there is also the possibility of laser therapy. Nowadays, a so-called flash lamp -pumped dye laser ( Flashlamp pumped dye laser, FPDL ) is used for this purpose. Scarring are rare in this method. Such treatment can go on for several years. A total of up to ten sessions needed between those for the Cure about two months should be paused.

Syndromes

The port wine stain may be evidence of other disease in some cases. Up to 30 syndromes have now been associated with the occurrence of a fire Malles to:

• In Sturge -Weber syndrome include eye, meninges and brain may be involved. Affected children can have epileptic seizures, suffer glaucoma and mental retardation. A port-wine stain is in the face, so the risk of Sturge -Weber syndrome is 6%. If the birthmark in Innervationsbereich of the first trigeminal branch, the ophthalmic nerve, the risk increases to 26%.

• Klippel Trenaunay - Weber syndrome is a syndrome that is associated with partial gigantism of the trunk or extremities. In addition, there may be cause malformations of the deep blood and lymphatic system.

• Maffucci 's syndrome is also associated with extensive vascular malformations. In addition, many benign bone tumors occur ( Enchondromatosis ).

Famous People

Mikhail Gorbachev is one of the best known personalities wearing a birthmark - which has been very frequently referred to in the media especially during his politically active time against my better judgment erroneously as " Mole ". In an interview Gorbachev once replied to the question of a possible surgical removal of their fire several times that he did not give the impression that aesthetic him things are more important than politics - and therefore focus primarily on the latter.

See also: Mongolian spot, birthmark, beauty mark, lentigo maligna, stigma