Nevus flammeus is a capillary angiodysplasia that occurs in the embryonic period of intrauterine development. Occasionally, there is an acquired form of nevus associated with injuries, infections, and medication. Disease has the appearance of a bright pink, red or purple spot of different sizes and a bizarre shape. It is mainly located on the face, neck and upper torso. Diagnosis requires a clinical examination, ultrasound Dopplerography, MR angiography and computed tomography. Laser coagulation is recognized as the most effective method of treatment.
ICD 10
Q82.5 Congenital non-tumor nevus
General information
In the medical literature, two synonymous concepts are used: a nevus flammeus and a wine stain (port wine stains, PWS), which describe the same congenital malformation. Pathology occurs in 0.3-0.5% of newborns, no significant sexual, ethnic and racial differences were found. Due to its prevalence and pronounced cosmetic defect, nevus flammeus is an important problem in practical dermatology. The efforts of specialists are aimed at developing minimally invasive and effective ways to remove stains.
Causes
The etiological structure of wine stains is not precisely established. Advances in genetics have made it possible to identify several point mutations, probably associated with capillary malformations. Children with nevus flammeus often have defects in the genes GNAQ6, RASA16, EPHB4 and PIK3CA. In some patients, vascular angiodysplasia on the skin is part of genetic syndromes, such as:
- Sturge-Weber syndrome. This disease is characterized by the location of wine spots on the face along the branches of the trigeminal nerve. In addition to skin symptoms, vascular anomalies of the brain and eyes occur, and atrophy of nervous tissue is possible.
- CLOVES syndrome. Pathology is manifested by multiple capillary, venous and lymphatic dysplasia in combination with epidermal nevi. Children suffer from lipomatosis, scoliosis, bone and joint damage.
- Proteus syndrome. Vascular malformations are combined with abnormally rapid and excessive growth of individual parts of the body. The pathognomonic manifestation of the disease is considered to be an overgrowth of the skin in the area of the palms and soles.
- CLAPO syndrome. Capillary dysplasia is localized in the lower lip area with overgrowth on the skin of the perioral zone. Pathology is accompanied by macroglossia, deformity of facial features and limbs.
- Klippel-Trenone syndrome. A distinctive feature of the nevus flammeus with this defect is its location on the lower extremities. The pathology is accompanied by varicose veins on the legs, hypertrophy of bones and soft tissues.
The acquired nevus flammeus, which was first described by the German dermatologist F., is singled out in a separate category. Fegeler in 1949. Wine stains occur after injury to the cervical or thoracic spine. Pathology can manifest itself at any age. Later, other triggers of acquired PWS were established: frostbite, taking hormonal and lipid-lowering medications, and herpes zoster.
Pathogenesis
The formation of congenital pathology occurs in 5-10 weeks of the intrauterine period. There are two key hypotheses in pathogenesis: violation of vascular innervation and genetic mutations of angiogenesis. It was found that the number of S-100 nerve fibers in pathological dermal vessels was sharply reduced. This causes a decrease in basal vascular tone and a decrease in the number of neurotrophic factors – the main causes of abnormal vascular growth.
Pathological expression of arterial (EfnB2) and venous markers (EphB1) occurs in abnormal skin vessels. Such processes cause disturbances in the primary differentiation of dermal arterioles and venules, promotes excessive capillary growth. The pathogenesis of the disease involves the pathological activation of signaling pathways of enzymes: activated protein kinases, phosphoinositide-3-kinases.
Pathomorphologically, the nevus flammeus is characterized by dilated capillaries and postcapillary venules, which are located in the papillary layer and the upper part of the mesh layer of the dermis. There are no signs of endothelial proliferation and cellular atypia. Gradually, the number of ectated vessels increases, perivascular fibrosis progresses.
Symptoms
The vascular spot develops even in the prenatal period and is well contoured immediately after the birth of the child. The typical localization is the scalp and neck, and in 85% of patients the neoplasm is located on one side of the body relative to the median line. In infants, the spot is colored pink, eventually acquires a reddish, wine-colored or purple hue. The skin defect has clear contours resembling the outlines of geographical maps.
Initially, the spot has a smooth surface and rises slightly above the level of unchanged skin. It is not accompanied by pain, itching and other subjective symptoms. The nevus flammeus increases in proportion to the patient’s height. Gradually it becomes bumpy, separate vascular nodes appear on the surface. Occasionally, hypertrophy of the skin and soft tissues is observed in the affected area.
Complications
The main problem of wine stains is a cosmetic defect in appearance, because of which patients are ashamed of themselves, have difficulties meeting new people and communicating with the opposite sex, are limited in choosing professions and career growth. Large nevi located on the face often cause depressive disorder, social isolation, and unsettled personal life.
The skin in the area of the wine stain is easily injured, irritated by mechanical friction with underwear or clothing. Adult patients may experience paresthesia and itching, which worsen the quality of life. If a nevus occurs as a component of a genetic syndrome, a large list of complications from the nervous, musculoskeletal, cardiovascular and lymphatic systems develops.
Diagnostics
Nevus flammeus is accompanied by characteristic external symptoms, so the verification of the diagnosis is quite simple. The examination of patients is conducted under the guidance of a pediatrician and a pediatric dermatologist. The congenital nature of the spot, its typical localization and wine color play a decisive role in the diagnosis. Valuable information is obtained when clarifying obstetric and family history. Additionally , the following research methods are carried out:
- Ultrasound with dopplerography. Ultrasound diagnostics of the affected area of the body is necessary to assess blood flow in pathological vessels, to exclude more dangerous arteriovenous malformations that can mimic a nevus flammeus.
- MR angiography. Magnetic resonance diagnostics is recommended as the most accurate and safe method of investigation, which is used in complex cases. On the pictures it is possible to consider any superficial and deep vascular anomalies.
- Computed tomography. The study is carried out with malformations in order to assess the structure of connective tissue, to identify pathologies of the musculoskeletal system. With concomitant neuralgic symptoms, a CT scan of the brain is indicated.
- Tissue biopsy. Biomaterial sampling is required for differential diagnosis between congenital and acquired forms of wine stain, genetic studies in the diagnosis of hereditary syndrome.
In practical pediatrics, difficulties arise in the syndromic diagnosis of nevus flammeus as a component of genetic diseases. Since it is part of the structure of more than 10 combined malformations, to determine the nosology, a consultation of a geneticist, a clinical and genealogical method, and a study of skin biopsies are required. In particularly difficult cases, genome sequencing is performed.
Treatment
Wine stains are subject to aesthetic correction by laser therapy. The effectiveness of treatment depends on the age of the patient, the size, number and depth of the vessels. The optimal age for the first procedure is from 3 months to 6 years. In this period, it is possible to achieve lightening by 55% in one procedure, whereas in older children the effectiveness of laser coagulation is 1.5-2 times lower.
The “gold standard” of nevus flammeus therapy is treatment with a pulsed laser with a wavelength of 595 nm. The technique shows maximum effectiveness in superficially located neoplasms. Wine spots on the side surfaces of the face are best amenable to correction, since the vessels are located in the papillary layer of the dermis. Nevi in the central part of the face and on the body go away more slowly, require a long course of laser therapy.
Resistance to standard laser treatment is observed in 20% of patients with giant and nodular vascular malformations. In such a situation, alternative hardware procedures are used: exposure to intense pulsed light (phototherapy), alexandrite and neodymium lasers. To achieve a lasting result, it will take about 10 sessions with intervals of 2 to 6 weeks between them.
Prognosis and prevention
The technique of laser coagulation makes it possible to significantly lighten the nevus flammeus, which has a positive effect on the appearance and psychological comfort of patients. With an isolated vascular anomaly, the prognosis is favorable. When vascular spots are combined with genetic syndromes, the prognosis is determined by the severity of somatic symptoms. Measures to prevent the disease have not yet been developed.