Ichthyosis Vulgaris
Sometimes called fish scale disease or fish skin disease, ichthyosis vulgaris is a hereditary skin disorder that causes dead skin cells to accumulate on the surface of the skin as thick, dry scales. These scales may be present at birth but usually first appear in early childhood. Ichthyosis vulgaris sometimes disappears completely for most of the adult years but then returns.
Although most cases are mild, some cases of ichthyosis vulgaris are severe. As there is no cure, treatment focuses on controlling the symptoms.
Signs and Symptoms
Ichthyosis vulgaris presents with severely dry, scaly skin. The scales are small and polygonal, and their colour ranges from white to dirty grey and brown. People with darker skin usually develop darker scales.
These scales are usually seen on the elbows and lower legs and can be particularly thick and dark over the shins. Ichthyosis can also cause the scalp to become dry and flaky and deep, painful cracks to form on the palms and soles. Although most cases of ichthyosis are mild, some can be severe.
Symptoms usually worsen or become more noticeable in cold, dry environments and tend to improve or even clear completely in warm, humid environments.
X-linked Ichthyosis
This type of ichthyosis, which begins shortly after birth, occurs only in males. The noticeable dirty-brown scales that characterise this skin disease are most prominent on the back of the neck, the arms and the backs of the knees. The symptoms usually do not improve with age.
Lamellar Ichthyosis
This severe type of the disease is present at birth and continues throughout life. Babies with lamellar ichthyosis are born wrapped in a translucent membrane that peels off after 10 to 14 days, revealing skin covered with scales. These scales can range from thin and white to thick and dark and, although they are usually seen over the whole body, they may be larger on the legs. Lamellar ichthyosis can be extremely disfiguring and can cause great psychological distress in children and adults with the condition.
Congenital Non-bullous Ichthyosiform Erythroderma
An uncommon disorder that can represent more than one metabolic abnormality. It is inherited recessively, and the skin changes, usually appearing at birth, present as generalised erythroderma and fine scaling of the entire skin surface. The erythema tends to decrease in later life and may disappear by middle age, but the scaling is permanent and may even worsen with age. Short stature, intellectual disability, ocular defects and other developmental abnormalities are sometimes associated with this condition.
Epidermolytic Hyperkeratosis
Epidermolytic hyperkeratosis is a rare, autosomal dominant disorder of keratinisation. As in non-bullous ichthyosiform erythroderma, there is widespread erythema. The presence of a collodion membrane at birth in some patients may herald this disease. The course of the disease is characterised by a tendency to form vesicles, or erosions may develop at the edges of traumatised skin. The erythema and vesicles may improve with age. Characteristically, the scaling and hyperkeratosis are wavy and ridged in the body folds.
Because of the hyperkeratosis, which often causes physical disability and creates an unsightly appearance that is socially hard to accept, patients are constantly in need of help. In addition, the hyperkeratotic areas are often infected and malodorous. Ectropion and deformed (crumpled) ears are common.
The pathognomonic histological feature of epidermolytic hyperkeratosis is the degenerative changes seen in a reticular pattern in the epidermis. As in non-bullous ichthyosiform erythroderma, there is increased epidermal cell production. In recent years, several keratin gene mutations causing this disease have been found.
In general, topical moisturisers and keratolytics are not helpful. Oral retinoids, when the dose is adjusted appropriately, can markedly improve the physical appearance. However, although these medicines reduce hyperkeratosis, they may temporarily increase the number of vesicles.
Collodion Baby
The ichthyoses (disorders of cornification) are a hereditary group of diseases characterised clinically by widespread, severe dryness of the skin and variable scaling, and histopathologically by hyperkeratosis. The term ichthyosis comes from the Greek word ‘ichthys’ (fish). The most common forms of ichthyosis are ichthyosis vulgaris, X-linked recessive ichthyosis, bullous ichthyosis (epidermolytic hyperkeratosis), lamellar ichthyosis and congenital ichthyosiform erythroderma (non-bullous congenital ichthyosiform erythroderma).
“Collodion” babies are covered at birth with a thick, taut layer resembling parchment paper, which is later shed. Collodion babies are a rare congenital anomaly, occurring in 1 in 50,000 to 1 in 100,000 live births and equally in both sexes, and these babies are often premature. The main complication is pneumonia secondary to aspiration of squamous material in the amniotic fluid, appearing in the first days of life. It has been reported that, because of the inadequate skin barrier that results when the collodion membrane is later shed, hypothermia, increased insensible fluid loss, hyponatraemic dehydration, skin infection and sepsis may develop.
Harlequin Foetus
Harlequin ichthyosis is inherited in an autosomal recessive manner. Mutations have been identified in the ABCA12 gene. It is a very rare but usually fatal disorder of keratinisation. The underlying problem is reported to be an abnormality of the lamellar granules, which play an important role in desquamation. Premature birth is common. In this disease, plaques that encase the skin like armour and deep fissures are seen. There is ectropion (eversion of the eyelids) of both eyes, eclabium (eversion of the lips), a fish-mouth appearance and flattening of the ears and nose. The ears and nose appear hypoplastic. The hair and nails are underdeveloped. The hands and feet are hypoplastic, and necrosis may develop at the extremities because of the armour-like structure of the skin. Joint movement is restricted.
Patients with harlequin ichthyosis need to be monitored in fully equipped intensive care units with a multidisciplinary approach. The key points of treatment are very frequent moisturising of the skin to prevent fluid loss, use of humidified incubators, adherence to hygiene rules, appropriate fluid therapy, maintaining temperature balance and protection from infection. These patients usually die in the first days of life because of severe fluid loss, disturbed temperature balance and sepsis. Vitamin A treatment gives good results in terms of skin findings, reducing hyperkeratosis and correcting ectropion and eclabium. In cases surviving beyond the newborn period, very good neonatal intensive care and the use of vitamin A have been reported to be effective.
Acquired Ichthyosis
Ichthyosis is a skin disease, which may be congenital or acquired, characterised by dryness and scaling of the skin. It is usually congenital; when it appears later in life it is associated with malignancy. Acquired ichthyosis usually resembles ichthyosis vulgaris clinically, but may sometimes have the appearance of X-linked recessive or lamellar ichthyosis.
Diffuse, small, white or brown, parallel scales with raised edges are located on the trunk and the extensor surfaces of the arms and legs. Except in X-linked ichthyosis, the flexural folds and palmoplantar region are generally spared. 70–80% of cases associated with malignancy are associated with Hodgkin lymphoma. Associations with non-Hodgkin lymphoma, multiple myeloma, leukaemias, Kaposi sarcoma, leiomyosarcoma, cutaneous T-cell lymphoma and, less often, solid tumours have also been reported. Acquired ichthyosis usually occurs after the diagnosis of the malignancy but may also occur before it. The dermatosis usually follows a course parallel to that of the tumour. After treatment of the tumour, acquired ichthyosis usually regresses.
Trichothiodystrophy
A group of autosomal recessive diseases characterised by abnormal, short, brittle hair with a very low sulphur content. These syndromes are associated with neuroectodermal disorders. Repair of UV-induced DNA damage is defective in half of patients. When the hairs are viewed under a light microscope, they look like a tiger’s tail because of their low sulphur (cystine) content. In addition, there may be trichorrhexis nodosa-like fractures. Photosensitivity has been reported in half of patients. This group of diseases/syndromes can be briefly classified as follows:
Photosensitivity
Ichthyosis
Brittle hair
Intellectual impairment
Decreased fertility
Short stature
Diseases with nucleotide repair defects include xeroderma pigmentosum (XP) and Cockayne syndrome in addition to the photosensitive form of TTD. Unlike xeroderma pigmentosum, no increase in skin cancer has been observed in patients with TTD.
Erythrokeratodermia Variabilis
Erythrokeratodermia variabilis is a rare genodermatosis inherited in an autosomal dominant manner. The characteristic skin lesions consist of hyperkeratotic plaques and migrating erythematous areas. The lesions usually appear in the first years of life and tend to be asymptomatic and chronic. A case with late onset and rosette-type lesions that benefited from systemic retinoic acid treatment is presented.
Palmoplantar Keratoderma
Palmoplantar keratoderma consists of a group of hereditary or acquired diseases presenting with abnormal thickening of the palms and soles. The hereditary form results from defects in genes encoding structural components of keratinocytes, resulting in abnormal thickening of the epidermis. The acquired form is associated with various inflammatory or infectious skin diseases, including psoriasis and chronic eczema.
Depending on the appearance on the palms and soles, the clinical lesions of PPK can be classified into 3 forms: diffuse, focal and punctate. Non-volar skin and areas including the teeth, nails and sweat glands may also be involved. Treatment includes topical keratolytic agents and topical and oral retinoids.
Mal de Meleda
Mal de Meleda (MdM) is a rare skin disease inherited in an autosomal recessive manner. It is characterised by palmoplantar keratoderma (PPK) with a 'glove and stocking' distribution, keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. The effect of oral retinoids in disorders of keratinisation is well known. Mal de Meleda was first described in 1826 on the island of Meleda in Dalmatia. It is a rare autosomal recessive form of palmoplantar keratoderma.
Its prevalence in the general population is 1 in 100,000 2,3 . Homozygous mutations in the ARS gene have been identified in families with MdM 3,4 . Various cases have been reported, including a large series from Turkey 4,5 . This rare disease is characterised by widespread keratoderma extending from the palms and soles to the backs of the hands and feet (glove and stocking distribution). Perioral erythema, brachydactyly, nail abnormalities, keratotic skin lesions, hyperhidrosis and maceration usually accompany the palmoplantar hyperkeratosis.
Papillon-Lefèvre Syndrome
Papillon-Lefèvre syndrome is a very rare hereditary disease inherited in an autosomal recessive manner. It is characterised by hyperkeratinisation, usually of the palms and soles, and early destruction of the periodontal tissues in the primary and permanent dentition. Early destruction of periodontal tissues and early tooth loss in children are very rarely encountered. Such periodontal diseases are mostly seen as a result of a deficiency in the child’s defence mechanisms, a systemic disease or as part of a syndrome.
One of the syndromes in which such early periodontal tissue destruction is seen is Papillon-Lefèvre syndrome. As reported by Galanter, Papillon-Lefèvre syndrome (PLS) was described by Papillon and Lefèvre (1924) as a hereditary disease characterised by hyperkeratosis of the palms and soles together with early destruction of the periodontium in the primary and permanent dentition. Again as reported by Galanter (4), although similar diseases with this type of skin finding had been described earlier, e.g. the palmoplantar hyperkeratosis of Unna and Thost (Unna 1883) and Mal de Meleda (Hovorka and Ehlers, 1887), no oral findings were reported in these. The syndrome, whose incidence is estimated at about one in 4 million, is autosomal recessive, and a family line is observed in 23% of cases.
Olmsted Syndrome
It is a TRPV3-related condition. TRPV3 (transient receptor potential vanilloid-3)-related disease is rare. There is symmetrical, diffuse keratoderma of the palms and soles, amputation of the fingers and hyperkeratosis around the mouth, anus and genital area. Most cases arise spontaneously. The number of genetically inherited cases is very small.
It begins in the first years after birth. It starts locally at first and later spreads. Nail irregularities are seen. Hair loss, deafness and tooth loss have also been reported in some cases.
Over time, SCC and malignant melanoma develop in the affected areas.
Pachyonychia Congenita
Pachyonychia congenita (PC) is a rare hereditary ectodermal disease characterised mainly by hypertrophic nail dystrophy and focal palmoplantar keratoderma. The disease is divided into two clinical subgroups, PC-1 and PC-2, which correlate with mutations in keratin genes. Although the most prominent clinical feature of both groups is hypertrophic nail dystrophy, oral leukokeratosis is usually seen in PC-1, whereas PC-2 often presents with nail dystrophy, widespread steatocystoma, natal teeth and hair abnormalities. Here a case is presented that showed the classic findings of PC-2 and in whose family four generations were affected.
Punctate Palmoplantar Keratoderma
Punctate palmoplantar keratoderma (PPPK) type 1 (Buschke-Fischer-Brauer disease) is a rare genodermatosis presenting with numerous hyperkeratotic papules of varying diameter in the palmoplantar region. Although it is mostly asymptomatic, tenderness on pressure may be seen. Punctate palmoplantar keratoderma is a type of hereditary keratoderma inherited in an autosomal dominant (AD) manner, presenting with raindrop-like hyperkeratosis in the palmoplantar region. Its prevalence is 1.17 per 100,000, and it is rare. Unlike other hereditary keratodermas, it has a later age of onset, beginning in the 2nd to 3rd decades.
Darier Disease
Darier disease may be familial or idiopathic (without a cause). It can also arise spontaneously. It is a chronic disease that can flare up at certain periods throughout life. The disease is characterised by papular eruptions in the form of raised bumps on the skin. It is typical for the papular skin lesions of the disease to be malodorous. The eruptions can also lead to an undesirable physical appearance. Darier disease can also affect the nails and the inside of the mouth. It is seen equally in both sexes. The skin eruptions are adversely affected by sunlight, so the disease may flare up in the summer months. Irritation of the skin also has an adverse effect on the lesions. Humidity and heat are other factors that affect the disease adversely.
What Are the Symptoms of Darier Disease?
The eruptions are itchy. They can sometimes be painful. An unpleasant odour may be noticed.
Lesions are common on the back and chest. Eruptions may also be seen on the edges of the ears and nose. The scalp, groin and forehead are other areas that may be affected. Breakage or cracks may occur in the nails due to thinning. White bumps may also be seen inside the mouth and on the lips and gums.
How Is Darier Disease Diagnosed?
The physical examination by a dermatologist is the most important factor. The diagnosis is then confirmed with a skin biopsy.
How Is Darier Disease Treated?
Depending on the course of the disease, dermatologists may plan treatment with certain creams. Sunscreen creams are also preferred. Reducing skin irritation (preventing friction) is advised, and vitamin A may also be used. In advanced cases, surgical procedures may also be helpful.
What is keratosis pilaris?
This condition occurs when dead cells accumulate in the hair canal within the skin and block it. Keratosis pilaris is a common condition, seen in 40% of people. It is commonly seen on the upper outer arms. Apart from the cosmetic discomfort it causes, the condition has no other symptoms.
What does it look like?
It appears as numerous small, rough, skin-coloured, red or brownish bumps located where the hairs emerge from the skin. Although they can occasionally be itchy, they are usually a cosmetic concern.
Which parts of the body are most often affected?
It appears as tiny bumps especially on the outer arms, buttocks and cheeks, and less often on the forearms and upper back.
At what ages and in whom is it seen?
It becomes more noticeable during adolescence. It can also be seen in babies and may persist into adulthood. However, it is not common in the elderly. It is particularly common in overweight people and in white people with allergic eczema.
When does it become more noticeable?
Keratosis pilaris gets worse in the winter months and in low-humidity environments. It may gradually disappear over the years.
Are there different types of keratosis pilaris?
Keratosis pilaris rubra: The lesions are redder.
Keratosis pilaris atrophicans faciei: Seen on the face; it leaves slight pitted marks.
Ulerythema ophryogenes: Affects the outer part of the eyebrows.
Atrophoderma vermiculata: A worm-eaten appearance is seen on the cheeks.
Keratosis follicularis spinulosa decalvans: A rare hereditary form that causes loss of the eyebrows and scalp hair.
Lichen spinulosus (keratosis spinulosa): Seen anywhere on the body as areas of tiny bumps topped with spiny scales.
Is it hereditary, and what causes it?
Keratosis pilaris is hereditary in origin and its exact cause is not known. There is a disorder in the shedding of dead cells in the hair canal. Instead of being shed one by one, the dead cells are shed stuck together. This causes the hair openings to widen and become prominent. A hair coiled beneath the skin is often seen.
Is there a treatment?
Because the condition is hereditary, there is no complete cure. To reduce it, soap-free skin cleansers should be used, because soaps dry the skin. Creams with a mild peeling (exfoliating) effect work by opening the blocked hair canal. For example, moisturisers containing urea, salicylic acid or alpha hydroxy acids should be applied twice a day. Patients respond differently to treatments. However, the effect of these treatments is temporary, so treatment should be applied regularly. The skin can be rubbed with a pumice stone in the bath. Creams containing retinoids, which are vitamin A derivatives, can be used. Redness and peeling may be seen in the treated area in the first week of treatment. This treatment is not suitable for young children and pregnant women. Pulsed dye laser treatment may also be helpful. Laser hair removal is beneficial in some cases.
Acanthosis Nigricans
It appears as plaques of symmetrical darkening of the skin and velvety thickening of the skin. Most often seen on the sides of the neck, the nape, the armpits, the backs of the elbows and knees, under the breasts, in the abdominal fold, in the genital area and on the nipples, this condition is grey-brown or black and almost gives the impression that the area is dirty.
These plaques, also regarded as a reaction of the skin to various stimuli, can begin at any age and are seen equally often in both sexes. The stimuli are thought to be certain accompanying benign and malignant diseases. For this reason, acanthosis nigricans can be examined under two main headings: benign (familial, obesity, drug-related, certain hormonal diseases and diabetes-related) and malignant (related to stomach cancer, liver, breast, lung and certain other cancers).
DIAGNOSIS
The definitive diagnosis is made with the examination of a small piece of skin.
TREATMENT
When the underlying disease is identified and treated, the skin findings also improve on their own. For example, when overweight people get down to a normal weight, the skin also returns to its normal appearance. Acanthosis nigricans is a skin finding that is particularly important for the early diagnosis of malignant diseases. If similar complaints arise in any area of your skin, consult your family doctor.
Gougerot-Carteaud Syndrome
Gougerot-Carteaud syndrome (GCS) is a rare dermatosis of young adults characterised by reticulated, pigmented plaques that tend to merge, on areas such as the neck, upper trunk and armpits. Gougerot-Carteaud syndrome (GCS) is also known as confluent and reticulated papillomatosis. It is a rare dermatosis of young adults characterised by reticulated, hyperpigmented plaques that tend to merge, on areas such as the neck, upper trunk and armpits.