Lichen Sclerosus
Lichen sclerosus is a type of skin disease. It is usually seen in women. Although very rarely, it can appear on the arms, legs and trunk; it is seen most often in the genital areas and the vulvovaginal region. Lichen sclerosus can occur in all age groups, but it is more common in adult and middle-aged women. So what are the symptoms of lichen sclerosus?
White spots form in the vulvovaginal area in women, and the itching that develops there is extremely uncomfortable. This itching is worst at night and can disturb sleep. The itching can be very severe. Lichen sclerosus does not extend into the anus and vagina, but it forms around them and is extremely uncomfortable. So what causes lichen sclerosus?
Medicine does not know the causes of lichen sclerosus, but inflammation develops in the vulvovaginal area and this causes changes in the skin. This is how it is known to arise. Although the cause is unknown, an immune response develops in the affected skin, producing the reactions we call inflammation. This creates the problem we call lichen sclerosus, and it is not contagious. One in 4 women with lichen sclerosus also has conditions such as pernicious anaemia or vitiligo. Since this is one of their common problems, it may also be regarded as a cause.
Lichen sclerosus can cause various and severe pain during sexual intercourse. Burning may also occur when passing urine. This disease is a problem that can also turn into skin cancer. These are problems that are seen alongside it.
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is an inherited, autosomal recessive, multisystem metabolic disease affecting the elastic fibres, particularly in the skin, retina and blood vessels. Its prevalence is between 1 in 25,000 and 1 in 100,000. The average age of onset is 13.5 years. On clinical examination, the 1–3 mm yellowish papules seen on the skin, and plaques formed by their merging in a linear or reticular pattern, are located most often in flexural areas such as the antecubital fossa, the back of the knee, the groin, below the collarbone, the neck, the armpits and the umbilicus, and in areas of trauma. 85% of patients have eye involvement; the first eye finding is punctate retinal pigmentation. Cardiovascular complications usually occur in adults. Intermittent claudication is the most common and earliest cardiovascular sign. There is no specific treatment for the skin signs. Lifestyle changes may be thought to have a favourable effect on the course of the disease.
Pseudoxanthoma elasticum (PXE) is a multisystem, metabolic connective tissue disease which, due to calcification of the elastic fibres, causes damage particularly to the skin, Bruch's membrane of the eye and the blood vessels. It is inherited in an autosomal recessive manner. It is also called Grönblad-Strandberg syndrome or systemic elastorrhexis. Its prevalence is between 1 in 25,000 and 1 in 100,000. The average age of onset is 13.5 years, though it can appear at any age. It occurs twice as often in women as in men.
Mutations in the ATP-binding cassette, subfamily C, member 6 (ABCC6) gene, which encodes MRP6, a transmembrane transporter protein produced mainly in the liver and believed to play a role in cellular detoxification, have been reported to cause PXE. Genetic mutation screening of the ABCC6 gene can now be carried out. To date, more than 200 mutations have been identified. The fact that ABCC6 has at least two pseudogenes has complicated mutation analysis.
On clinical examination, the yellowish papules of one to three mm seen on the skin, and plaques formed by their merging in a linear or reticular pattern, are located most often in flexural areas such as the antecubital fossa, the back of the knee, the groin, below the collarbone, the neck, the armpits and the umbilicus, and in areas of trauma. The appearance can be likened to "plucked chicken skin" or "cobblestones". The same papules can also be seen on the oral, gastric, vaginal and rectal mucosa.
85% of patients have eye involvement. It is generally bilateral and begins between the ages of 20 and 40. The first eye finding is punctate retinal pigmentation. Early diagnosis of eye disorders is important, as vision can be preserved with laser treatment.
Cardiovascular complications usually appear in adults. Intermittent claudication is the most common and earliest cardiovascular sign.
Ehlers-Danlos Syndrome
This is a group of inherited connective tissue disorders of variable severity, with autosomal recessive, autosomal dominant or X-linked recessive inheritance.
Its primary characteristic features are hyperextensible skin and joints, easy bruising, impaired wound healing, pseudotumours and eye defects. Marked abnormalities of collagen synthesis have been identified in some subtypes of Ehlers-Danlos syndrome (types IV, VI and VII). The prognosis of the various EDS subtypes depends on the specific associated features and their complications.
It is an inherited disease whose common features include fragile skin, easy tissue bruising, delayed wound healing and joints that are looser than normal.
The disease was named after Edvard Ehlers and Henri-Alexandre Danlos, Danish and French dermatologists, following their discoveries and research in 1901 and 1908.
There are 7 known genetic types:
Although the biochemical changes produced by types 1, 2 and 3 are not known, all three are known to be autosomal dominant;
Type 4 is also autosomal dominant and its cause is known: owing to a defect in the alpha-1 type III collagen (COL3A1) gene, type III collagen cannot be produced, so the connective tissues remain lax.
Type 5 is X-linked and shows reduced activity of the enzyme lysyl oxidase.
Type 6 is autosomal recessive; insufficient hydroxylysine amino acid is found in the collagens, and, as in type 5, abnormal lysyl oxidase enzyme activity is seen.
Type 7 is also autosomal recessive, but the disease arises from collagen deficiency in the body due to a lack of procollagen peptidase, the enzyme that converts procollagen into collagen.
Acquired Cutis Laxa
Acquired cutis laxa (ACL) is an elastolytic disease characterised by loose, sagging skin folds with loss of dermal elastic tissue, giving rise to a "sad bloodhound" appearance and carrying a risk of systemic involvement.
History:
In 1966 Marshall, Heyl and Weber produced a classification separating the acquired and genetic types of cutis laxa, which is still accepted today.
Epidemiology:
ACL is a rare disease seen mostly in adults. Although it can occur at any age, it most often appears in the 2nd and 3rd decades. It shows no sex or racial predilection. ACL is rarer than congenital cutis laxa.
Aetiology and Pathogenesis:
In ACL, the loss of elastic tissue is thought to be due to reduced synthesis of serum elastase inhibitors such as alpha-1 antitrypsin. In addition, proteolytic elastases released into the extracellular matrix from neutrophils (serine elastase) or monocyte-macrophages (metalloelastase) may be responsible for the elastolytic activity. Furthermore, in lesional skin, elastolytic activity in dermal fibroblasts is increased and elastin gene expression is reduced. A reduction in serum copper (a lysyl oxidase cofactor) levels may be responsible for decreased elastic fibre synthesis. Rarely, IgG deposition on elastic fibres has been reported in patients with plasma cell dyscrasia and multiple myeloma, and IgA deposition in a patient with blepharochalasis, suggesting that immunological mechanisms may also be responsible for elastolysis. Genetic predisposition is also implicated in the development of ACL: mutations in the elastin and fibulin-5 genes may be responsible for ACL developing after inflammation.
Elastosis Perforans Serpiginosa
Elastosis perforans serpiginosa (EPS) is a rare dermatosis characterised by papules, usually localised to one area, mostly on the neck, upper limbs or trunk, arranged in an annular pattern or in arcs, with an atrophic centre and, at the border, papules containing a central keratotic plug. Its aetiology is not fully known. About 25–40% of cases are accompanied by a systemic disease. Familial cases have also been reported.
Kyrle's Disease
Kyrle's disease belongs to the group of diseases involving perforation of the skin. It was first described by Kyrle in 1916. Clinically, the lesions are numerous dome-shaped, itchy papules with a keratinised centre, ranging in size from 2 mm to 8 mm. Some lesions tend to form plaques; this tendency has been found to be associated with the Koebner phenomenon. The lesions are widely distributed over the body and are often seen on the extensor surfaces of the lower limbs.
Reactive Perforating Collagenosis
Reactive perforating collagenosis (RPC) is a perforating dermatosis characterised by transepidermal elimination of collagen. Two clinical types have been described: a rare autosomal recessive type usually seen in children, and a more common acquired form usually seen in adults. The acquired form is generally associated with certain systemic diseases, chiefly diabetes mellitus (DM) or renal failure. The perforating diseases of the skin are elastosis perforans serpiginosa, reactive perforating collagenosis, Kyrle's disease and perforating folliculitis.
The mechanism of transepidermal elimination of dermal components in these perforating diseases is not clear.
Cutis Verticis Gyrata
Cutis verticis gyrata (CVG) is a condition affecting the skin of the scalp, in which the scalp skin becomes thickened. The thickening causes deep folds that closely mimic the convolutions of the brain. There are two classifications of primary causes and one classification for secondary causes of CVG.
Primary essential CVG is used to describe the presence of CVG when no underlying condition is known and no other abnormalities that might be associated with it are found. This form of CVG develops around puberty and is more common in males than in females. Primary CVG progresses slowly, which makes diagnosis in the earlier stages possible.
The second primary classification is primary non-essential CVG. Specific neurological conditions, such as epilepsy and cerebral palsy, may be associated with CVG. These conditions do not necessarily cause CVG, but they are often seen together with it. Research has shown that many people with various neurological disorders also have some degree of CVG, whether or not it leads to deep skin folds. Some patients do not progress to developing folds but frequently suffer from scalp infections and lesions.
Secondary cutis verticis gyrata is diagnosed when an underlying condition directly causes CVG. Not all conditions cause CVG; only conditions that change the scalp or its structure have the potential to do so. Examples include folliculitis, eczema, acromegaly and various cutaneous conditions grouped as genodermatoses.
Although cutis verticis gyrata is usually not seen until the onset of puberty, there have been some early-stage cases present at birth. When CVG arises from cutaneous conditions and is secondary, plaques or flaking of the scalp may be seen in newborns and infants. Topical medicines can help to treat the visible symptoms temporarily, but the condition will continue to progress.
Treatment of cutis verticis gyrata includes medicines used to deal with symptoms such as infections and dry skin, but there are no medicines that will cure CVG. Avoiding infections through hygiene is important. If skin lesions appear or the skin folds are troublesome, surgery is an option. Skin lesions can be repaired with minor surgery, and the skin folds can be removed and the skin rejoined with cosmetic reconstructive surgery.
Striae (Stretch Marks)
These are linear, atrophic (thin-looking) bands that are common in the population. They develop due to dermal damage caused by stretching of the skin. As stretch marks form, a pink discolouration and itching first appear in the skin. Soon afterwards a red-purple line appears (striae rubrae). Over time these red marks fade and turn white (striae albae).
What causes striae?
- Pregnancy
- Rapid weight gain or loss
- Rapid growth in height during puberty
- Cushing's syndrome
- Creams, tablets and injections containing corticosteroids
- Certain medicines used in patients with AIDS
- Certain genetic diseases
- Chronic liver disease
Where on the body do striae most often develop?
- During pregnancy, striae usually develop on the abdomen and breasts.
- During puberty, the outer thighs and lower back are often affected.
- In bodybuilders, they may appear on the shoulders.
- In overweight people, they can develop on different parts of the body.
- In Cushing's syndrome, widespread striae develop and may sometimes be seen on the face. These striae are larger and wider than others.
- Striae caused by corticosteroid creams appear at the site where the creams are applied and usually develop more often in skin folds.
Do diet and exercise reduce stretch marks?
Dieting and exercise prevent new stretch marks from developing but do not reduce existing ones.
What is used to treat striae?
- Tretinoin cream
- Trofolastin cream
- Massage with plant oils
- Glycolic acid (20%)
- Trichloroacetic acid (10–35%)
- Laser
- PDL: effective on red stretch marks in the early stage.
- Excimer laser: alters pigmentation but has no effect on skin thinning.
- Copper bromide laser: mildly to moderately effective in fair-skinned people.
- Diode laser: ineffective.
- IPL: found to be effective on white stretch marks.
- Fractional laser: effective on both red and white stretch marks.
- Phototherapy (combined UVB/UVA1 treatment): helpful in correcting the colour of stretch marks.
- Microdermabrasion
- Derma roller
- Radiofrequency
- Combination of radiofrequency and PRP (platelet-rich plasma)
Does using plant oils during pregnancy prevent stretch marks?
While 15-minute massage with plant oils such as almond oil during pregnancy has been found to reduce stretch mark formation, using plant oil alone has been shown to have no effect in reducing stretch marks.
Are stretch marks harmful?
Stretch marks usually cause only a cosmetic problem. Sometimes they can open easily after trauma or scratching and ulceration may develop. There may also be an increase in elastic tissue in striae, which can appear as yellowish linear raised areas (linear focal elastosis).
Chondrodermatitis Nodularis Helicis
Chondrodermatitis nodularis helicis (CNH) is a dermatological condition that most often affects the helix of the outer ear. Very rarely it can also be seen on the antihelix and tragus. It was first described by Winkler in 1916. It is usually seen in middle-aged men (aged 50–80). Sporadic juvenile and paediatric cases have also been reported in the literature. The male-to-female ratio is 10:1. Its true aetiology is unknown. It has been suggested that it is caused by ischaemic dermal damage arising from triggering factors such as repeated trauma, actinic and cold damage, and pressure during sleep or from frequent mobile phone use. Microvascular insufficiency accompanying autoimmune diseases has been thought to play a part in the pathophysiology of CNH, particularly in patients under 40. Recent studies also point to a genetic component of the disease.
Necrobiosis Lipoidica Diabeticorum (NLD)
Although it occurs in only 0.3% of diabetic patients, this is a chronic granulomatous skin disease of unknown aetiology that is quite specific to diabetes. The characteristic site of the asymptomatic lesions is the front and sides of the lower legs. It can also be seen on the face, arms and trunk. The lesions are sharply demarcated plaques, red-brown in colour, with a yellowish, atrophic-looking centre. The surface is smooth and shiny, and telangiectasias may be seen. In 30% of cases, ulceration may develop in the centre, either spontaneously or after trauma. NLD can appear at any age, but it is most common in the 3rd–4th decades. It is three times more common in women than in men.
Although most patients are diabetic or prediabetic, no association with diabetes is found in a small proportion of cases. The pathogenesis of NLD is not fully known. It is thought to be due to arteriolar changes in areas where the collagen has become necrobiotic, and to changes in the collagen caused by a granulomatous inflammatory reaction. The severity of NLD is not related to the severity of the diabetes.
Furthermore, control of the diabetes has no effect on the course of the disease. There is no effective treatment, but local and intralesional steroid applications can stop the lesion from spreading. Medicines that improve the microcirculation, such as pentoxifylline and aspirin, can also be used.
Granuloma Annulare
Granuloma annulare is a skin disease that presents with a raised, ring-shaped rash that tends to be single or grouped. Although it is seen particularly in children and young adults, it can occur in any age group. It is twice as common in women as in men.
What does granuloma annulare look like?
Granuloma annulare can be pearly white, skin-coloured, red or purple. It is often located in one area, but sometimes there may be a widespread rash over the whole body. It is commonly seen on the backs of the hands and feet and on the wrists and ankles. In granuloma annulare, round, firm, smooth bumps form a ring with a pale centre. There is usually no itching or peeling, so they often go unnoticed.
What causes granuloma annulare?
The cause of granuloma annulare is unknown. It is thought to be a reaction of the immune system. Whether it is associated with diabetes is still being investigated. There is no internal organ disease that accompanies it. However, your dermatologist may request blood tests for certain conditions that may be associated with it. The disease usually causes no discomfort.
What other diseases resemble granuloma annulare?
It is often confused with a fungal infection. Sometimes the lesions may look like insect bites. For this reason, when this type of rash appears, the diagnosis should always be made by a dermatologist.
How do dermatologists diagnose granuloma annulare?
Sometimes the diagnosis can easily be made by examination, while at other times a biopsy may be needed to establish it.
How is granuloma annulare treated?
As the disease causes no discomfort, treatment may not be needed. The disease disappears on its own within a few months, although it can sometimes last for years.
However, if the disease is present in many places, it can be cosmetically bothersome. There are many treatment options. Corticosteroid creams recommended by a dermatologist can be used, or the doctor can give corticosteroid injections. As corticosteroid creams can have side effects, the doctor's advice should be followed.
PUVA is a special ultraviolet light treatment. When the disease is very widespread, this treatment can be given under the supervision of a dermatologist. The most common side effect of PUVA is sunburn-like burns. Sometimes oral treatments may be given. The decision on the appropriate treatment is made by dermatologists.
Annular Elastolytic Giant Cell Granuloma
Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease, seen most often in women, characterised by phagocytosis of elastic fibres by multinucleated giant cells. Clinically, it is characterised by single or several grouped annular plaques with raised edges and an atrophic centre, or by red papules, usually on sun-exposed areas.