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A dermatologist needs diagnostic equipment. What is "tuber" in tuberous sclerosis

Sturge-Weber syndrome causes a port-wine stain, usually on the forehead and upper eyelid, in the region of the 1st or 2nd branch of the trigeminal nerve. Leptomeningeal angioma occurs in 90% of patients when the patch involves the upper and lower eyelids on one side, but only in 10-20% of cases when only one eyelid is damaged. Neurological complications include seizures, focal neurological deficits (eg, hemiparesis), and mental retardation. The disorder may also lead to the development of glaucoma and vascular malformations, which may increase the risk of cardiovascular events (eg, stroke, thrombosis, venous occlusion, heart attack). The syndrome is not inherited; etiology is not clear. Types.

There are 3 types.

  • Type I: port wine stain and brain angioma.
  • Type II: port wine stain without cerebral angioma.
  • Type III: brain angioma without port wine stain.

Symptoms and signs of Sturge-Weber syndrome

Port wine stains can vary in size and color from light pink to dark purple.

Seizures occur in approximately 75-90% of patients and usually begin at 1 year of age. Seizures are usually focal but may become generalized. Hemiparesis on the side opposite to the port wine stain develops in 25-50% of patients. About 50% of patients are mentally retarded and more than half have some learning difficulty. Development may be delayed.

The eyeball may be enlarged and protrude from the orbit (buphthalmos).

Diagnosis of Sturge-Weber syndrome

The diagnosis is suggested by the presence of a characteristic port wine stain. CT and MRI are used to check for the presence of leptomeningeal angioma. A neurological examination is performed to detect neurological complications.

Treatment of Sturge-Weber Syndrome

Treatment focuses on symptoms. Anticonvulsants and medicines are used to treat glaucoma. Small doses of acetylsalicylic acid are often prescribed to help prevent strokes. Selective photothermolysis can lighten a port wine stain.

33-year-old Katie Piper, who almost lost her face with sulfuric acid poured on her, took part in a charity project. The TV presenter and model invited four British women with various serious skin problems and helped them transform with makeup.

Women all over the world struggle with self-doubt. This battle against self-imposed complexes can be even more difficult for those who suffer from rosacea, vitiligo, or whose face is covered with welts and scars. British TV presenter Kathy Piper, who was doused with sulfuric acid, decided to draw attention to this topic. She invited four women with skin problems to one of the London beauty salons to show how you can change yourself with makeup.

Katy wanted to prove that makeup can be used as a tool to boost self-esteem, and not just to cover up imperfections. “My face is a unique canvas. I can proudly walk without makeup at all, ”Piper said in an interview.

The dramatic transformations of the four heroines of the TV presenter's project will be shown as part of the documentary "Katy Piper: Face to Face", which will air in mid-April.

fill: scars

Fille, 23, was injured in a car accident two years ago while volunteering in Ghana. Makeup artists gave such beauty tips to Fill: “Start your makeup with a moisturizer, and apply a tonal foundation with a beauty blender. This will “drive” the product into the skin and create an even coating without noticeable scars and dents.”

Rochelle: vitiligo

Rochelle was diagnosed with vitiligo when she was only 11 years old. At school, her classmates bullied her because of the white spots on her skin. Now 27-year-old Rochelle prefers not to wear makeup because she doesn't want to hide her natural beauty. But now she is ready to experiment. With the help of concealer, makeup artists managed to completely hide the traces of the disease, but Rochelle herself admitted that she would hardly be able to do such a make-up every day before leaving the house.

Lisa: port stain

Lisa was born with a unique skin defect called port wine stain. An accumulation of dilated capillaries appears on the affected area of ​​the face, forming a red spot, which can be of different sizes and different shades - from light pink and red to dark purple. When the make-up was completed, Lisa was simply stunned. "I'm going to cry. I thought I hated my face, but now I realized that I can be different, and it's great! "- she said.

Sanna: rosacea

Sanna was diagnosed with rosacea in September last year. The girl admitted that the disease affected her relationship with business partners, and now she is very worried about what people think of her. After seeing the results of her transformation, she praised the makeup artists for their excellent work: “Thank you, my red spots on my cheeks have almost disappeared, it's amazing!”.

The film will also tell the story of Katie Piper herself. She was the victim of her abusive ex-boyfriend, Daniel Lynch, who hired an accomplice to throw sulfuric acid in the model's face. As a result of the attack, Piper lost her eyelids, most of her nose, and part of her ear. Her facial skin was eaten away so that her skull was visible. She spent seven weeks in the hospital. After a major operation, Katie remained in a coma for 12 days. Piper lost 38 kg and was fed through a catheter for a while. Then for two years, 23 hours a day, she wore a special plastic mask to keep her scars to a minimum. In total, the girl underwent about 100 operations to restore her facial skin. Now she runs a charitable foundation and helps thousands of women with similar problems.

A flaming nevus is a congenital birthmark on the skin of the face, neck, and torso. It is a vascular disease. It just doesn't go away. Works well with laser.

Synonyms: wine stain, port wine stain, fiery nevus, capillary angiodysplasia of the face, flaming nevus.

Flaming nevus at Mikhail Gorbachev

Flaming nevus

Causes

The main cause of a port-wine stain is an intrauterine disorder in the development of skin vessels. Skin vessels in the area of ​​the spot are dilated, but do not have tumor growth, as in hemangioma. Such a condition in medicine is called a malformation, or dysplasia, that is, a developmental disorder.

Attention: A flaming nevus is not a hemangioma or cancer!!! This condition is not life threatening.

Symptoms and manifestations

The main and main symptom of a fiery spot is that in a newborn, irregularly shaped red or red-bluish spots appear on the face, neck, rarely on the body. With diascopy (finger pressure) - the spot turns pale.


These spots:

  • do not itch, no itching,
  • do not inflame
  • don't bleed
  • do not go away on their own
  • grow in size with the child,
  • with age, they may become more cyanotic, nodules may appear in the center of such spots (these are angiofibromas).

Capillary angiodysplasia in a woman

Diagnostics

It is not difficult to make a diagnosis of a flaming nevus.

But there is a big BUT:

In some cases, wine stains on a child's face can be combined with serious congenital pathologies of internal organs (brain or spinal cord, eyes, dwarfism or gigantism of a limb).

Therefore, the pediatrician during the initial examination of such a newborn should first of all exclude the pathology of the internal organs. The doctor should prescribe additional examinations and consultations of related specialists (ophthalmologist, neurologist). And if such a pathology is not found, then you can calm down and start treating the port-wine stain on your face.

Even today, children with port-wine stains are often misdiagnosed as hemangioma. If the hemangioma is very difficult to cure, which leads to psychological deformation of the child's personality. Either capillary angiodysplasia, or a flaming nevus, or port wine stain is successfully treated in several procedures. And subsequently, children forget about such a pathology, no one teases them, they successfully develop their personal lives.

Treatment

  • cauterize with liquid nitrogen
  • use a conventional laser -
  • sclerotherapy of blood vessels with alcohol

Attention: flaming nevus, wine stains - this pathology is very successfully treated. If a dermatologist told you - accept it, this is for life - do not believe him. Change dermatologist.

In the last 20 years, all over the world, the treatment of a flaming nevus has been carried out using a laser.

Attention: only a pulsed dye laser (so-called vascular laser) can be used. All other lasers can burn the skin of the child's face and cause scarring.

The mechanism of action of a pulsed dye laser: a laser beam of a certain power is emitted for several milliseconds. A certain laser wavelength leads to heating of the capillaries (vessels) of the skin in the area of ​​the spot. Vessels stick together. They don't bleed through. As a result, the spot becomes lighter.
The skin itself is not affected. There is no skin burn, which means there are no scars on the skin.

Is it possible to use folk remedies?

You can, it won't hurt. But they WILL NOT HELP!!!

When should treatment be started?

Already in the first months of life. The older the child, the larger, darker, and more difficult the spot becomes to cure.

How many procedures will be needed?

From 1 to 5 depending on the size and color of the spot. The interval between procedures is 2-4 weeks.

Anesthesia required?

Depends on the age of the child and the location of the spot. Infants are given general anesthesia.

Watch a video of how children with wine stains are treated at the Russian Cancer Center:

Nevus of Unna

Nevus Unna is a red birthmark on the skin of the face, back of the head and neck in newborns. It occurs in 30-40% of newborns. Passes on its own. Does not require treatment.

Synonyms: stork bite (or kiss), birth spot, salmon spot, red fish spot, angel kiss, occipital nevus, vanishing spot, telangiectatic nevus.

ICD10 code: Q82.5 (congenital non-neoplastic nevus)

Nevus of Unna in a child


Causes

Causes of Unna's nevus: expansion of capillaries on the scalp during childbirth. A number of researchers believe that temporary fetal hypoxia, that is, a lack of oxygen during childbirth, leads to this. Another important factor is the pressure of the mother's pelvic bones on the baby's scalp. Recall that the head of a child is the most voluminous part of the body during childbirth.

Attention:"kiss of a stork" or Unna's nevus is not a hemangioma!!!
This is a benign variant of a flaming nevus. That is, over time, this stain goes away on its own, without treatment.

Symptoms and clinic

Symptoms of the nevus of Unna:

  • a patch of pink or reddish color on the skin of the nose, bridge of the nose, forehead, eyelids, upper lip, neck, occiput, sometimes on the sacrum,
  • the spot is flat, does not rise above the adjacent skin,
  • an irregular spot, with brighter areas of passing vessels in the center (the so-called telangiectasias),
  • when pressed with a finger (diascopy), the spot turns pale at the point of pressure,
  • when straining, crying the child, the spot becomes bright,
  • no itching, no itching, no pain.

Treatment

Treatment is not required. Passes independently in the first months, sometimes - the first years of a child's life.

The prognosis is favorable.

If the stain does not disappear with age, after 3-5 years, the patient should be referred for stain removal with a dye laser (vascular laser).

Folk remedies?

They don't help!!! The main factor in the speedy healing of Unna's spot is a calm, stress-free regimen for an infant.

Attention: if the doctor did not answer your question, then the answer is already on the pages of the site. Use the search on the site.

In 1879, W.A. Sturge reported a 6-year-old girl with buphthalmos, hemiparesis, and angioma of the facial skin, also involving the mucous membranes of the lips, gums, palate, pharynx, and uvula. F.P.Weber (1922) revealed intracranial calcifications in an X-ray examination of a patient with facial skin angioma and hemiplegia. Sturge-Weber-Krabbe syndrome includes the following clinical features:

Epidemiology and genetic research. The disease is usually sporadic. Casuistic cases of the development of the disease in several members of the same family are known. It is not possible to explain the mechanism of inheritance using Mendel's laws.

Ophthalmic manifestations. Eye changes are very diverse, the degree of their severity varies significantly. These include angiomatosis of the eyelids, protruding tortuous conjunctival and episcleral choroid plexuses, ipsilateral iris heterochromia, choroidal hemangioma, and glaucoma.

Choroidal angioma occurs in approximately 40 % patients with Sturge-Weber-Krabbe syndrome. In some of them, the choroidal angioma may be localized (limited), representing a red-orange neoplasm in the posterior field. In most patients, a diffuse angioma of the choroid is noted, spreading to all parts of the choroid, causing an ophthalmoscopic phenomenon called the "tomato ketchup" reflex (Fig. 11.14).


Diffuse angioma of the choroid is more often congenital and develops asymptomatically for some time. As a rule, both eyes are affected. Visual disturbances usually appear at age 6-12 years. Children with diffuse choroidal angioma usually have hypermetropia, which may gradually increase.

Ophthalmoscopy in these cases reveals cystic maculopathy, diffuse deposits of solid exudate in the posterior pole (see Fig. 11.14), tortuosity of the retinal vessels, multiple arteriovenous communications, hyperplasia of the retinal pigment epithelium. Exudative retinal detachment often develops (Fig. 11.15). When echography in children with diffuse angioma of the choroid, a significant thickening of the choroid is recorded, mainly in the posterior pole (see Fig. 11.15).


Glaucoma develops in 33 % patients with Sturge-Weber syndrome. An unfavorable symptom in the development of glaucoma in these patients is traditionally considered to be the spread of angioma of the skin of the face to the upper eyelid. Meanwhile R.F. Stevenson and J.D. Morin| (1975) noted that in patients with a nevus of the lower eyelid, glaucoma develops as often as with lesions of the upper eyelid. In some patients with choroid hemangioma in Sturge-Weber syndrome, the development of glaucoma may be associated with hyperemia of the ciliary body, which causes hypersecretion of intraocular fluid. Other reasons for the development of glaucoma in Sturge-Weber syndrome are abnormalities in the development of the trabecular network and arteriovenous communications of the anterior chamber angle, leading to a violation of the outflow of intraocular fluid.

Systemic manifestations. Congenital angioma of the facial skin (“flame-shaped nsvus”, or “port wine stain”) is observed in almost all patients with Sturge-Weber disease (see Fig. 11.13). Angioma is usually located along the branches of the trigeminal nerve, but sometimes extends to the cervical segments.

Focal or generalized motor paroxysms are observed in 80 % patients with Sturge-Weber-Krabbe syndrome. Some may have mental retardation. These disorders are caused by a slowing of the blood flow velocity in the affected pia mater, which leads to anoxia of the underlying area of ​​the cerebral cortex. Vascular malformations in the occipital lobes can cause themianoptic defects in the visual field.

A typical radiological sign for angiomatosis of the brain is the presence of calcifications in the leptomeningeal space, localized mainly in the parietal-occipital region (Fig. 11.16).


Ophthalmic rehabilitation. In the treatment of patients with Sturge-Weber-Krabbe syndrome and glaucoma, both medical and surgical methods are used. Massive choroidal effusion is a frequent intraoperative complication of fistulizing interventions in patients with Sturge-Weber-Krabbe syndrome.

With local (limited) angiomas of the choroid, laser coagulation and cryotherapy are used, but, unfortunately, these methods are palliative, allowing only for a while to slow down the progression of the disease. Nevertheless, in some cases, the use of laser coagulation makes it possible to control the accumulation of subretinal fluid for a sufficiently long time and restrain the development of exudative retinal detachment, while maintaining object vision in patients.

Laser coagulation is indicated for patients with limited angioma of the choroid of extrafoveal localization, which in some cases can be combined with exudative retinal detachment extending to the fovea. Before laser coagulation, FAG is necessary to accurately determine the boundaries of the angioma. For coagulation of limited choroidal angiomas, argon green, neodymium:YAG green, or diode lasers are commonly used. Coagulation parameters: exposure 0,1-1,0 s, spot diameter 200-50 0 µm, power 200-800 uV. The parameters of laser coagulation are selected in such a way as to obtain coagulates of II-III degree (white focus with clear or sharply black borders). Retinal coagulation is carried out directly above the angioma, while the distance between adjacent coagulates does not exceed their diameter. After laser coagulation, within 1-2 weeks, complete or partial resorption of the subretinal fluid and reattachment of the detached retina occur.

Ranand et al. used xenon or laser photocoagulation 71 patient ( 71 eye) with limited al glaucoma. At 55 (78 % ) patients with choroidal angioma was combined with exudative retinal detachment. After the first course of treatment, complete resorption of the subretinal fluid was achieved in 79 % cases. Nevertheless, 40 % patients, reaccumulation of the subretinal fluid was noted, which required additional coagulation, as a result of which the authors managed to achieve complete reattachment of the detached retina in all cases. After photo- or laser coagulation, an increase in visual acuity was observed in 20 % patients, stabilization or slight fluctuations - in 80 % . When re-examining patients whose visual acuity after treatment exceeded 20/200 , through ] 0 years, its decrease to 20/200 and below in 36 % cases.

The most effective methods of treating patients with both local and diffuse angiomas of the choroid are radiation and brachytherapy, as well as external directed non-contact radiation. H. Schilling et al. (1997) reported the successful use of external targeted non-contact irradiation for the treatment of diffuse choroidal angioma in 12 sick ( 15 eye) with Sturge-Weber syndrome. In 6 eyes before treatment, neovascular glaucoma was also detected, which could not be stopped with medication. The total absorbed dose per course of treatment was 20 Gr. After treatment, all patients showed a decrease in tumor height, complete or partial resorption of the subfluid, and reattachment of the detached retina. As a result of treatment, an increase in visual acuity by two or more lines of the table was noted by the authors in 46,6 % eyes, stabilization of visual acuity or its slight fluctuations - in 53,4 % . Intraocular pressure in all patients with neovascular glaucoma reached normal levels. The follow-up period for patients averaged 5,3 of the year. There were no cases of recurrence of the disease.

In patients with diffuse angioma of the choroid and total retinal detachment, radiation therapy is carried out with an organ-preserving goal to prevent the development of neovascular glaucoma. For cosmetic purposes, laser therapy for angioma of the eyelid skin can be performed.

- Neurofibromatosis.
- Tuberous sclerosis.
- Sturge-Weber Syndrome.

What is the type of inheritance of various neurodermatoses?

- Neurofibromatosis - autosomal dominant.
- Tuberous sclerosis - autosomal dominant.
- Hippel-Lindau syndrome - autosomal dominant.
- "Pigmentary incontinence" - X-linked dominant.
- Sturge-Weber syndrome - sporadic cases.
- Klippel-Trenaunay-Weber syndrome - sporadic cases.

What is the origin of the term phakomatosis?

The term "phakomatosis" comes from the Greek. phakos (spot) and is used to refer to skin lesions that have a variegated appearance and are delimited from healthy skin. This type of foci are markers of diseases belonging to this group. In addition to dermatological manifestations, with phakomatosis, there is a hamartomatous lesion of the tissues of other organs, especially the eyes and the central nervous system. The term "neurocutaneous syndrome" is more commonly used.

What are the diagnostic criteria for neurofibromatosis-1?

The presence of two or more of the following:
- cafe-au-lait spots (6 or more spots greater than 5 mm in diameter before puberty, greater than 15 mm in diameter after puberty);
- "freckles" (in the inguinal or axillary areas);
- neurofibromas (2 or more) of any type or 1 plexiform neurofibroma;
- glioma of the optic nerve;
- Lisch nodules (2 or more);
- characteristic bone pathologies (dysplasia of the sphenoid bone of the skull, thinning of the cortical layer of long tubular bones with or without pseudarthrosis);
- Neurofibromatosis-1 (NF-1) in the next of kin.

How is NF-1 different from NF-2?

NF-1, classic Recklinghausen's disease, has a higher prevalence (1:3000-4000 newborns); NF-1 accounts for up to 90% of cases of neurofibromatosis. NF-2 occurs with a frequency of 1:50,000 newborns and is characterized by the presence of bilateral acoustic neuromas, intracranial tumors and tumors of the spinal canal, as well as the detection of a similar pathology in the next of kin. The emergence of NF-1 is associated with damage to the 17th chromosome, and NF-2 is based on damage to the 22nd chromosome. Skin manifestations and peripheral neuromas are rare in NF-2. Other subtypes of neurofibromatosis (e.g., segmented distribution) have also been described, but are much less common.

How common are coffee-au-lait spots in newborns?

Almost 2% of black newborns have three café-au-lait spots on their skin, while 0.3% of white newborns have only one such spot. Neurofibromatosis is more likely to develop in Caucasian children with multiple café-au-lait spots. In the older age group, a single spot with a diameter of more than 5 mm is observed in 10% of white children and in 25% of children with black skin.

What is the likelihood of developing neurofibromatosis in a 2-year-old child with 7 café-au-lait spots larger than 5 mm in diameter?

In such a child, neurofibromatosis (most often type I) will develop with a probability of up to 75%. At yearly examinations, a complete dermatological and ophthalmological examination and blood pressure measurement should be performed.

How often do patients with NF-1 have a family history?

This autosomal dominant disease is characterized by a high incidence of spontaneous mutations, so only 50% of patients have a family history of cases of NF-1.

What are Lisch nodules?

These are pigmented hamartomas of the iris. They are not always found in newborns with NF-1, but they appear in 90% of such patients by the age of 6 years.

What are the diagnostic features of tuberous sclerosis?

- Angiofibroma of the face.
- Sublingual or paralingual fibromas.
- "Mounds" of the cortical layer.
- Subependymal nodes or giant cell astrocytomas (histologically confirmed).
- Multiple calcified subependymal nodes protruding into the ventricular cavity (confirmed by x-ray).
- Multiple retinal astrocytomas.

What are the most common early symptoms of tuberous sclerosis?

Seizures. Almost 90% of patients with tuberous sclerosis have seizures of various types. This disease is the cause of 5-10% of cases of infantile seizures. Mental retardation is noted in 60% of these patients.

Why the term "sebaceous gland adenoma" should not be used when describing the symptoms present in a patient with tuberous sclerosis?

With a biopsy, these formations turn out to be angiofibromas; they have nothing to do with adenomas or sebaceous glands. Rashes of this type occur in almost 75% of patients aged 5-13 years and are usually localized on the face (mainly on the nose). These are monomorphic papular elements of red color; they are often mistaken for acne.

What is "tuber" in tuberous sclerosis?

These are nodules 1-2 cm in diameter, consisting of small stellate neurons and elements of astroglia, derived from primitive cell lines resulting from pathological differentiation. Such nodules can be found in various parts of the cerebral cortex. To the touch they are dense, like small potatoes.

What tissue do the "shagreen" areas consist of?

"Shagreen" areas are areas of thickening of the skin, having the appearance of a cobblestone pavement. A biopsy reveals that these are connective tissue nevi. The term "shagreen" comes from the name of specially processed leather, which is given a relief pattern during the dressing process.

What types of "port wine stains" on the face are most likely to be associated with CNS pathology or ophthalmic pathology?

"Port wine spots" may be isolated birthmarks on the skin, and may also be associated with pathological changes in other tissues, especially underlying: (1) the choroidal vessels of the eye (resulting in glaucoma); (2) leptomeningeal vessels of the brain (resulting in epileptiform seizures; (3) spinal cord (resulting in hemangiomas). ", which notes:
1) eyelid involvement;
2) symmetrically located "birthmarks";
3) involvement of all three branches of the trigeminal nerve on one side.

If such signs are found, an ophthalmological examination and computed tomography (or MRI tomography) are indicated.

What are the three stages of "pigment incontinence"?

Incontinentia pigmenti is an X-linked, dominantly inherited syndrome characterized by recurrent seizures and mental retardation. The male fetus usually dies in utero, so 100% of patients are girls.

Stage 1
Vesicular - chains of blisters appear on the skin of the trunk and limbs of the newborn, which resolve within a few weeks or months. These blisters may resemble the vesicles that form with herpes. Microscopic examination reveals eosinophils in the vesicular fluid.

Stage 2
Verrucous - skin rashes appear at the age of about 3-7 months. Elements of rashes are similar to brown hyperkeratotic warts. Rashes disappear by 1-2 years.

Stage 3
Pigmentary - there are spiral hyperpigmented ("marble cake") linear rashes, the elements of which are spots. The rashes may disappear over time; by early adolescence or adulthood, there is usually only residual hypopigmentation (sometimes referred to as stage 4).