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Dysplasia is a variety of pathological conditions or abnormalities that occur in the tissues of the human body. Dysplasias can be congenital, but it is not uncommon to diagnose dysplasias that develop during adolescence during the process of cell differentiation. What types and degrees of dysplasia are there? How are different types of dysplasia treated and can they be prevented?
What is dysplasia?
The word dysplasia comes from the Latin “dysplasia” which means malformation or maturation. In medical terminology, dysplasia is defined as abnormalities in the appearance of cells and disorders in the structure of the tissue that indicate early possible neoplastic transformation, disturbances in the structure, maturation and differentiation of cells and their structure.
In the case of abnormalities in the appearance of cells, they are usually cytological changes, while in the case of cell structure disorders we are dealing with polymorphism or an abnormality of the testicles. In abnormally maturing cells, numerous mitoses occur, and structural disturbances result in a loss of cell polarity and nuclear layering.
Dysplasia is a disease in which there is a gradual transformation and reconstruction of a previously healthy organ. It is worth mentioning that dysplasia mainly affects the epithelium and connective tissuetherefore, impaired differentiation is usually confined to the epithelial layer. Less frequently, serious invasions in deeper tissues occur, as the changes do not cross the basement membrane.
Dysplasia is often described as the transitional stage between tissue growth and cancer. It is believed that this disease is a very common histopathological marker of the pre-cancerous condition.
If you want to know more about connective tissue, check out: Connective tissue
Features of cells affected by dysplasia
The changes in cells that occur in dysplasia are microscopic changes and certain features can be distinguished among them. Dysplasia may include changes such as:
- various sizes of cells, i.e. anisocytosis;
- various shapes of cells, i.e. heterocytoza;
- increasing the size of cells, i.e. macrocytosis;
- cell nucleus enlargement;
- change of the nucleus to cytoplasm ratio in favor of the cell nucleus;
- increasing the color of the cell nucleus, i.e. hyperchromasia;
- the presence of many cell nuclei in one cell;
- the presence of pronounced nuclei in the cell nucleus;
- an increase in the number of vacuoles or their complete absence in cells;
- the presence of numerous mitotic figures, which is evidence of rapid, often abnormal cell division.
If you want to know how skin is built, check out: The structure of the skin
Degrees of dysplasia
Dysplasia is a progressive disease, therefore, there are several stages of its advancement. The division of the severity of dysplasia is as follows:
- 1st degree, i.e. low grade dysplasia – it is diagnosed when the disease advancement is insignificant and the cells with dysplasia are located in the ⅓ epithelium;
- 2st degree, i.e. moderate dysplasia – it is diagnosed when dysplastic cells are located in the ⅔ epithelium;
- 3st degree, i.e. high degree of dysplasia – it is diagnosed when the cells affected by dysplasia are located in the upper part of the epithelium. The appearance of these cells is practically the same as that of cancer cells.
As it is easy to deduce from the above division, the higher the level of dysplasia in cells or tissues, the more likely it is to turn into a cancer. Diagnosed dysplasia usually requires further examination, therefore the patient usually has tissue samples taken and, based on the results, is referred to pharmacological or surgical treatment.
Find out about the list of carcinogens. Check: Mechanisms of tumor formation
Types of dysplasia
Dysplasia is a disease that affects different organs in the human body, which is why there are different types of it. The most frequently diagnosed and described dysplasias include:
- bone or osteoarticular dysplasia – depending on the localization of osteoarticular dysplasia, dysplasias of epiphysis, epiphysis, bone shaft and epiphyseal cartilage are replaced. Epiphyseal cartilage dysplasia is one of the most frequently diagnosed dysplasias, i.e. hip dysplasia. Among the osteoarticular dysplasias there are also clavicular-cranial dysplasia, metaphyseal dysplasia, McKusick’s dysplasia, congenital bone fragility, fibrous bone dysplasia and dentin dysplasia;
- ectodermal dysplasia;
- congenital collagen disorders, for example, Ehlers-Danlos syndrome;
- storage diseases;
- hamartoma;
- focal cortical dysplasia.
If you want to know more about Ehlers-Danlos Syndrome, please read: Ehlers-Danlos Syndrome (EDS) – symptoms and treatment of the disease
Osteoarticular dysplasias
Osteoarticular dysplasia is a diverse group of diseases that are caused by a disruption of the formation, growth or development of individual elements of the bones and cartilage in the joints.
The abnormalities occurring in the bones and joints lead to the disruption of their functionality. Improper joint structure, in turn, affects the difficulties in moving and performing everyday activities.
Most of the osteoarticular dysplasias are genetically determined. As previously mentioned, depending on the location of dysplasia, there are epiphyses, epiphyses, bone shaft dysplasias and epiphyseal dysplasias.
The following diseases are listed among epiphyses dysplasia:
- hip dysplasia – it is insufficient development of bones and other elements that make up this joint. You can read more about this disease in the next part of the article;
- Scheuermann’s disease – often also called juvenile kyphosis. It is a disease that is caused by abnormal ossification of the vertebral bodies of the thoracic or lumbar spine;
- vertebral-epiphyseal dysplasia – is a disease that affects the body of the spine, epiphyses and epiphyses of long bones;
- polybasic disorder of endochondral ossification – in the case of this disease, degenerative changes occur in the joints, which cause persistent pain and impaired movement of the hip, knee or wrist joints.
The following diseases are listed among the dysplasia of the epiphyses of the bones:
- hypophosphatase – is a genetic disease in which the function of one of the types of the enzyme alkaline phosphatase is disturbed. As a result, compounds accumulate that inhibit bone mineralization, which can lead to rickets, osteomalacia, and arthritis;
- cranio-epiphyseal dysplasia – in this case, there are changes in the structure of the skull, which is visible in the external appearance of the patient, e.g. a prominent mandible or a wide, flat nose.
The following diseases are listed among the bone shaft dysplasia:
- congenital fragility of bones – is a disease caused by a collagen mutation. Due to the lack of proper collagen, bones are not strong, break easily, are very brittle and flexible;
- idiopathic acquired diaphyseal hyperplasia – in the development of this disease, there is deformation of the feet and contractures in the hip joints, which limits the ability to move.
The following diseases are listed among epiphyseal cartilage dysplasia:
- achondroplazja – as a result of gene mutation, the development of the epiphyseal cartilage of the bones is disturbed;
- enchondromatoza – in the course of this disease, cartilage tumors form around the metaphyses or shafts of long bones.
Osteoarticular dysplasias are relatively rare, and the most common diagnoses are hip dysplasia or Scheuermann’s disease. Osteoarticular dysplasias are usually diagnosed at a very young age of patients, often right after birth.
Parents should be worried about short stature, body disproportions, abnormal gait and joint pain. It is very important to perform the appropriate diagnosis quickly and start treatment under the close supervision of a pediatrician and a geneticist.
What are the most common bone diseases? Check: Bones get sick too. What diseases is our skeleton exposed to?
Hip dysplasia
Hip dysplasia is called osteoarticular dysplasia. This disease is diagnosed in newborns and infants. The earlier it is diagnosed, the better the chances of successful treatment. A young child’s joints are unstable and very fragile. Therefore, the bones that form them can be moved relatively easily against each other. When bones lose their proper position in a joint, the joint cannot develop properly.
Hip dysplasia in children is also called hip dislocation. This disease is caused by insufficient development of the bones and the elements that make up the joint.
Most often, hip dysplasia is caused by too shallow edges of the acetabulum on the hip bone, in which the femur is located. In this case, as the muscle strength increases, the femur may completely slide out of the acetabulum. This is when we deal with a hip dislocation. This disorder prevents the child from walking normally.
If the diagnosis is too late and not treated properly, your baby will have a limp in the future that makes him walk like a duckling. Dysplasia is usually one-sided, although there are cases bilateral dysplasia. This disease is much more common in girls.
Hip dysplasia can be identified by the instability of the baby’s hips. Jumping in the hip joint is noticeable during the daily care of the child.
Of course, hip dysplasia should be diagnosed by a pediatrician during compulsory hip examination in the neonatal unit, as well as during periodic preventive visits in the first year of life. The result of the examination from the neonatal unit should be recorded in the child’s health booklet.
Treatment of hip dysplasia can only be performed non-operatively if the disease is diagnosed relatively early. If the diagnosis is made too late, surgery will be required, which is associated with a long-term immobilization of the child in a cast and a greater risk of complications.
If you want to know more about hip dysplasia, read on: Hip dysplasia
Cervical dysplasia
Cervical dysplasia or so cervical intraepithelial neoplasia is referred to as a precancerous condition. In cervical dysplasia, there are abnormal, pathological changes in the structure of the cervical tissues. These changes can be malignant and develop into cervical cancer. The likelihood of developing cancer depends on the severity of your dysplasia.
Based on the advancement of dysplastic changes, the following division is used:
- low grade dysplasia – this is a very early stage of the disease with minor changes;
- moderate dysplasia;
- high degree of dysplasia;
- intraepithelial cancer.
Currently, in Poland, cervical dysplasia is most often diagnosed by cytological examination. The obtained result is determined on the basis of the five-point Papanicolau scale or the Bethesda scale.
The most frequently mentioned cause of cervical dysplasia is an oncogenic infection that affects the development of cancer cells. The virus that causes this infection is HPV, or the human papillomavirus. Women who smoke and use contraceptives are more likely to develop cervical dysplasia.
It is difficult to make a clear cut symptoms of cervical dysplasia. The most important symptoms to observe concern the Pap smear result. As a result, various dimensions and shapes of cell nuclei, enlargement of the cell nucleus, reduction in the amount of cytoplasm, atypical cell division or lack of differentiation of the stratified squamous epithelium are diagnosed.
Early stages of cervical dysplasia they are usually asymptomatic. In some cases, there is discharge after intercourse, and the intercourse itself can be painful for a woman. Symptoms, on the other hand, begin to appear at a very advanced stage of cervical cancer. Then there is pain in the lower abdomen, malaise or a feeling of fatigue.
Treatment of cervical dysplasia it depends on the stage of the disease, as well as on the age and general condition of the sick woman. For grade XNUMX cervical dysplasia, the disease regresses spontaneously and if it does not worsen within two years, no treatment is given.
In the case of second and third degree cervical dysplasia, cytological and colposcopic examinations should be performed every six months and consult a gynecologist regularly. If cervical cancer is diagnosed, three treatment options are available: surgical conization, cervical amputation, or removal of the uterus with collateral lymph nodes. The complementary treatment in this case is radiotherapy or chemotherapy.
What is Pap smear? Check: Cytology
Nipple dysplasia
Another type of dysplasia is the mammary dysplasia, i.e. mastopathy or fibrocystic dysplasia. Nipple dysplasia is a benign, non-cancerous, non-inflammatory lesion within the nipple. Dysplasia can occur in one or both breasts, but most often it affects the outer, upper parts of the breast.
In this condition, fibrosis occurs, i.e. the glandular tissue changes into fibrous and less metabolically active. Nipple dysplasia is most common in women over the age of 40.
Currently, it is not known explicit and main the cause of the occurrence of breast dysplasia. Experts indicate, however, that the changes may be hormonal. In the case of an imbalance of estrogen and progesterone, a serious disturbance in the proper functioning of the body may occur. These hormones affect tissues, especially those in the breast and reproductive organs of a woman.
Nipple dysplasia can be identified by tight and tender breasts. After self-examination of your breasts, you may feel a lump or multiple lumps. It is also worth remembering that breast dysplasia may have no symptoms, and the condition will not be diagnosed until after an ultrasound or mammography.
Treatment of breast dysplasia it is mainly based on the compensation of hormonal disorders. In the treatment, progesterone is administered to bring its levels into line with estrogen. Surgical treatment is also possible. The cystic elements are punctured and then the fluid is removed from them.
What diseases can sore nipples indicate? Check: What could be the cause of nipple pain?
Fibrous dysplasia of bone
Fibrous bone dysplasia is a rarely diagnosed disease in which skeletal defects are diagnosed. In this disease, normal bone tissue is replaced with fibrous or cartilage tissue. This disease most often affects one bone and then the prognosis is much better. If the fibrous dysplasia of the bone is multifocal, the prognosis is much worse.
Fibrous bone dysplasia can be monofocal, multifocal, or craniofacial. The most severe form of this dysplasia is Albright’s syndrome, which is accompanied by the appearance of characteristic light brown spots on the skin. The course of the disease depends on how many bones are affected by dysplasia. The most common lesions concern the bones of the skull, face, jaw and mandible. Fibrous bone dysplasia can also occur in the femur, tibia or ribs.
Symptoms of fibrous bone dysplasia there are bone pain, bone deformities, bone deformities, frequent fractures, limitations in the range of motion and tissue edema.
Why is it worth making a bone profile? Check: Bone profile – what tests does it contain?
Ectodermal dysplasia
Ectodermal dysplasia is a term that includes many diseases related to disorders of the development of teeth and skin and its products, i.e. hair, nails and sweat glands. It is a genetic disease caused by a mutation in the EDA gene. Women are the carriers of the mutation. Women don’t get sick themselves, but they can pass the defective gene to their son.
Symptoms of ectodermal dysplasia it is most often observed within the skin and its products. The skin is dry, flaky and often infected. The symptom of this dysplasia is very slow growth of hair that is thin, sparse and easily shedding. In addition, there are nail problems that are thin, brittle, and often nonexistent. In addition, the dentition is distinctive and the teeth are altered in shape.
Teething does not occur until 12-15 months of age, and some teeth may not develop at all. Patients with ectodermal dysplasia also have a reduced number of sweat glands, and some have no sweat glands at all.
Such a large list of symptoms of the disease means that the patient must be under the care of many specialist doctors, including a dermatologist, dentist, pediatrician and geneticist. Unfortunately, treatment focuses on improving the patient’s quality of life by reducing symptoms. So far, no causal treatment options are known.
What is worth knowing about skin diseases? Check: Skin diseases
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