Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin and subcutaneous tissue over one or more areas of the body. It is a type of ectodermal dysplasia that affects the skin, scalp, and skull. The condition is present at birth and can be associated with other anomalies such as neural tube defects, limb malformations, and craniofacial abnormalities.
There are several types of ACC, which are classified based on the location and extent of the skin defects. The following are the main types of ACC:
- Scalp ACC: This is the most common type of ACC and is characterized by the absence of skin and hair on the scalp. The underlying bone may be exposed, and there may be associated cranial anomalies such as skull defects, cranial dysraphism, or cranial nerve abnormalities.
- Non-scalp ACC: This type of ACC affects areas other than the scalp, such as the trunk, arms, legs, or face. The skin defects may be isolated or multiple and can range in size from small to large.
- Cranial ACC: This type of ACC is characterized by the absence of skin and subcutaneous tissue on the skull, with or without associated cranial defects.
- Congenital Stellate Lesions: This is a subtype of ACC characterized by the presence of star-shaped skin defects, usually on the trunk or limbs.
It can occur anywhere on the body, but the scalp is the most common site affected. ACC can range from a small, localized lesion to a large, extensive defect.
- Scalp ACC: This is the most common type of ACC, affecting about two-thirds of all cases. It can range from a small, isolated lesion to a large, widespread defect involving the entire scalp.
- Trunk ACC: This type of ACC affects the trunk, including the chest, back, and abdominal areas. It is less common than scalp ACC but can be more severe.
- Limb ACC: This type of ACC affects the arms or legs, and is the least common form of ACC.
- Cranial ACC: This type of ACC affects the cranial vault, including the skull and brain. It is rare and can be life-threatening.
- Congenital Nevus: A congenital nevus, also known as a birthmark, is a type of ACC that affects the skin. It is a collection of abnormal melanocytes, or pigment-producing cells, that can range in size from a few millimeters to several centimeters in diameter.
- Congenital Melanocytic Nevus: This is a type of ACC that is similar to a congenital nevus, but it is composed of abnormal melanocytes. It is often larger than a congenital nevus and may be associated with an increased risk of skin cancer.
- Epidermolysis Bullosa: This is a genetic condition that affects the skin and other tissues. It is characterized by fragile skin that blisters easily, as well as other symptoms such as joint contractures and an increased risk of skin cancer.
- Ectodermal Dysplasia: This is a group of genetic conditions that affect the ectoderm, the outermost layer of the developing embryo. It can cause a wide range of symptoms, including ACC, hair and nail abnormalities, and dental problems.
- Klippel-Trenaunay Syndrome: This is a rare congenital disorder that affects the skin, bones, and blood vessels. It is characterized by abnormal blood flow, overgrowth of bones and soft tissues, and skin discoloration.
- Proteus Syndrome: This is a rare congenital disorder that affects the skin, bones, and other tissues. It is characterized by overgrowth of tissues, skin abnormalities, and an increased risk of tumors.
- VACTERL Association: This is a group of birth defects that often occur together. It includes ACC, as well as other abnormalities such as vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
- Goldenhar Syndrome: This is a rare congenital disorder that affects the eyes, ears, and spine. It is characterized by facial asymmetry, hearing loss, and other symptoms.
- Apert Syndrome: This is a genetic condition that affects the skull, hands, and feet. It is characterized by fusion of the bones in the skull, as well as webbed fingers and toes.
- Crouzon Syndrome: This is a genetic condition that affects the skull and face. It is characterized by fusion of the bones in the skull, as well as other symptoms such as eye problems and hearing loss.
Causes
The exact cause of ACC is often unknown, but there are several known factors that can contribute to its development. Here is a list of 20 potential causes of ACC:
- Genetic factors: ACC may be caused by genetic mutations or inheritance of a genetic disorder.
- Teratogenic agents: Certain medications, drugs, and chemicals can cause ACC if they are taken during pregnancy.
- Infections: Infections during pregnancy, such as rubella, cytomegalovirus, and varicella, can cause ACC.
- Maternal diseases: Certain medical conditions in the mother, such as lupus, diabetes, and hypertension, can increase the risk of ACC.
- Chromosomal abnormalities: Chromosomal abnormalities, such as trisomy 13, 18, and 21, can cause ACC.
- Maternal age: Older maternal age is a risk factor for ACC.
- Multifetal pregnancy: ACC is more common in multiple pregnancies, such as twins or triplets.
- Maternal malnutrition: Malnutrition in the mother can increase the risk of ACC.
- Maternal stress: Severe stress during pregnancy can increase the risk of ACC.
- Placental problems: Abnormalities in the placenta, such as placental insufficiency, can cause ACC.
- Umbilical cord problems: Abnormalities in the umbilical cord, such as nuchal cord, can cause ACC.
- Umbilical cord compression: Compression of the umbilical cord during pregnancy can cause ACC.
- Vascular problems: Abnormalities in the blood vessels, such as arteriovenous malformations, can cause ACC.
- Trauma: Trauma to the fetus during pregnancy, such as a car accident, can cause ACC.
- Premature rupture of membranes: Premature rupture of the membranes during pregnancy can increase the risk of ACC.
- Rh incompatibility: Rh incompatibility between the mother and fetus can cause ACC.
- Maternal substance abuse: Substance abuse during pregnancy, such as alcohol or drug use, can cause ACC.
- Maternal autoimmune disorders: Autoimmune disorders in the mother, such as lupus or rheumatoid arthritis, can increase the risk of ACC.
- Maternal thyroid disorders: Thyroid disorders in the mother, such as hypothyroidism, can increase the risk of ACC.
- Environmental factors: Exposure to environmental toxins, such as pesticides or radiation, can cause ACC.
It is important to note that in many cases, the cause of ACC is unknown. Additionally, it is possible for ACC to be caused by a combination of factors.
Symptoms
Potential symptoms of ACC:
- Skin lesion: One of the most obvious symptoms of ACC is the presence of a skin lesion or defect. This can vary in size and location, but is typically found on the scalp, forehead, or other parts of the head and neck.
- Absence of hair: In many cases, the affected area may also be hairless, or there may be a patch of hair loss.
- Scarring: ACC can result in scarring of the affected area, which can be noticeable and unsightly.
- Numbness or tingling: Some people with ACC may experience numbness or tingling in the affected area due to nerve damage.
- Pain: Depending on the severity of ACC, some individuals may experience pain in the affected area, which can be quite debilitating.
- Swelling: Swelling of the affected area is another common symptom of ACC.
- Bleeding: If the ACC lesion is located near a blood vessel, there may be a risk of bleeding.
- Infection: ACC can be prone to infection due to the absence of skin and the exposure of underlying tissue.
- Deformity: Depending on the location and severity of ACC, the affected area may become deformed, which can result in functional and cosmetic issues.
- Hypopigmentation: In some cases, the affected area may appear lighter in color than the surrounding skin, which is known as hypopigmentation.
- Hyperpigmentation: Conversely, the affected area may appear darker in color, which is known as hyperpigmentation.
- Crusting: The affected area may develop crusting, which is a buildup of dried bodily fluids, such as blood and pus.
- Drainage: If the ACC lesion becomes infected, there may be drainage from the affected area.
- Foul odor: If the ACC lesion becomes infected, there may be a foul odor associated with the drainage.
- Difficulty healing: Depending on the severity of ACC, the affected area may be slow to heal, or may not heal at all.
- Itching: Some individuals with ACC may experience itching in the affected area, which can be quite bothersome.
- Abnormal growth patterns: Depending on the location of ACC, there may be abnormal growth patterns associated with the affected area, such as stunted hair growth or distorted nails.
- Psychological impact: ACC can have a significant psychological impact on individuals, particularly children, who may feel self-conscious about their appearance.
- Chronic infections: If ACC is not properly treated, there may be a risk of chronic infections in the affected area.
- Recurrence: In some cases, ACC may recur in the same or different location, which can be a source of significant distress for individuals and their families.
It is important to note that the symptoms of ACC can vary greatly depending on the severity and location of the condition. In some cases, ACC may be mild and go unnoticed, while in others it can be quite severe and result in significant functional and cosmetic issues.
Diagnosis
Here is a list of diagnostic tests and procedures used to diagnose ACC:
- Physical examination: A physical examination is the first step in diagnosing ACC. The healthcare provider will examine the affected area for signs of skin and subcutaneous tissue absence.
- Medical history: The healthcare provider will take a detailed medical history to determine if there is a family history of ACC or other genetic disorders, as well as any other relevant medical conditions.
- Ultrasound: An ultrasound is a diagnostic imaging test that uses high-frequency sound waves to produce images of the body. It can be used to diagnose ACC by evaluating the underlying structures of the affected area and confirming the absence of skin and subcutaneous tissue.
- Magnetic resonance imaging (MRI): An MRI is a diagnostic imaging test that uses a strong magnetic field and radio waves to produce detailed images of the body. It can be used to diagnose ACC by producing detailed images of the affected area and the underlying structures.
- Computerized tomography (CT) scan: A CT scan is a diagnostic imaging test that uses X-rays and computer processing to produce detailed cross-sectional images of the body. It can be used to diagnose ACC by producing detailed images of the affected area and the underlying structures.
- Biopsy: A biopsy is a diagnostic procedure that involves removing a small sample of tissue from the affected area for examination under a microscope. This can be used to diagnose ACC by confirming the absence of skin and subcutaneous tissue.
- Genetic testing: Genetic testing can be used to diagnose ACC by identifying genetic mutations or abnormalities associated with the condition.
- Chromosomal analysis: Chromosomal analysis is a diagnostic test that examines the structure and number of chromosomes in a person’s cells. It can be used to diagnose ACC by identifying any chromosomal abnormalities or mutations associated with the condition.
- Gene sequencing: Gene sequencing is a diagnostic test that examines the DNA sequence of a person’s genes. It can be used to diagnose ACC by identifying mutations or changes in specific genes associated with the condition.
- Fluorescence in situ hybridization (FISH): FISH is a diagnostic test that uses fluorescent probes to detect specific genetic abnormalities or mutations. It can be used to diagnose ACC by identifying specific genetic mutations or abnormalities associated with the condition.
- Microarray analysis: Microarray analysis is a diagnostic test that uses a microarray chip to detect changes in the expression of many genes at once. It can be used to diagnose ACC by identifying changes in gene expression that may be associated with the condition.
- Polymerase chain reaction (PCR): PCR is a diagnostic test that amplifies specific DNA sequences for analysis. It can be used to diagnose ACC by detecting specific mutations or changes in the DNA sequence associated with the condition.
- Mutation analysis: Mutation analysis is a diagnostic test that examines specific genes or mutations associated with a particular condition. It can be used to diagnose ACC by identifying specific mutations or changes in the DNA sequence associated with the condition.
- Tissue culture: Tissue culture is a diagnostic procedure that involves growing cells from a sample of tissue in a laboratory. It can be used to diagnose ACC by evaluating the growth and behavior of cells from the affected area.
Treatment
Treatments for ACC, with a brief explanation of each:
- Observation: In mild cases of ACC, the skin may heal on its own without the need for any intervention. The affected area may be covered with a sterile dressing to protect it from infection.
- Antibiotic therapy: In cases where there is a risk of infection, antibiotics may be prescribed to prevent the development of a skin infection.
- Wound care: The affected area should be cleaned and kept moist to promote healing. The use of topical ointments and creams may also be recommended.
- Skin grafting: In cases where the skin does not heal on its own, a skin graft may be necessary. A skin graft involves removing a piece of skin from another part of the body and transplanting it onto the affected area.
- Scalp expansion: This is a surgical procedure that involves stretching the skin on the scalp to cover the affected area. A balloon is inserted under the skin and gradually inflated over time to create more skin.
- Scalp reduction: This is a surgical procedure that involves removing the affected area of the scalp and then bringing the surrounding skin together to cover the defect.
- Flap surgery: This is a surgical procedure that involves moving a piece of skin from one part of the body to the affected area. The skin is attached to its new location with sutures or staples.
- Tissue engineering: This is a relatively new approach that involves using a combination of cells, scaffolds, and growth factors to create new skin.
- Stem cell therapy: This involves using stem cells to promote the growth of new skin. Stem cells have the ability to differentiate into any type of cell, including skin cells.
- Platelet-rich plasma (PRP) therapy: This involves using the patient’s own blood, which is processed to concentrate the platelets, and then injected into the affected area. Platelets contain growth factors that can promote the growth of new skin.
- Hyperbaric oxygen therapy: This involves exposing the affected area to high levels of oxygen, which can promote the growth of new skin and help to prevent infection.
- Laser therapy: This involves using a laser to stimulate the growth of new skin and promote healing.
- Ultraviolet light therapy: This involves exposing the affected area to ultraviolet light, which can help to promote the growth of new skin and prevent infection.
- Electron beam therapy: This involves using high-energy electrons to stimulate the growth of new skin and promote healing.
- Microskin: This is a type of artificial skin that can be used to cover the affected area. Microskin is made from a mixture of silicone and pigment, and is designed to match the color of the patient’s skin.
- Dermabrasion: This is a surgical procedure that involves removing the outer layer of skin to promote the growth of new skin.
- Tattooing: This involves using pigment to create an artificial skin-like appearance on the affected area.
- Tattooing with micropigmentation: This involves using a special type of pigment that is designed to match the color of the patient’s skin.
There is no cure for aplasia cutis congenita, but various treatments can be used to manage the symptoms and improve the quality of life of affected individuals.
- Surgical intervention: In cases where the lesion is large or deep, surgical intervention may be necessary to close the defect and prevent infection. The surgery can be performed using local or general anesthesia and may involve skin grafting or flaps to cover the defect.
- Antibiotic therapy: In cases where the defect is infected, antibiotics may be prescribed to treat the infection. The type of antibiotic used will depend on the type of bacteria causing the infection.
- Topical medications: In cases where the defect is not infected, topical medications such as topical corticosteroids or topical calcineurin inhibitors may be used to reduce inflammation and itching.
- Pain management: Pain management is an important aspect of treating aplasia cutis congenita, and various pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), may be prescribed to relieve pain and reduce inflammation.
- Wound care: Wound care is an important aspect of managing aplasia cutis congenita, and affected individuals may require frequent wound dressings and topical ointments to keep the defect clean and prevent infection.
- Physical therapy: Physical therapy may be necessary to help affected individuals regain mobility and strength, especially in cases where the defect is located on a limb.
- Occupational therapy: Occupational therapy may be necessary to help affected individuals with activities of daily living and to improve their overall quality of life.
- Psychological support: Aplasia cutis congenita can be a traumatic experience for affected individuals and their families, and psychological support may be necessary to help them cope with the emotional and psychological impact of the condition.
- Nutritional support: Nutritional support may be necessary for affected individuals, especially in cases where the defect is located on the scalp and affects the hair and scalp.
- Immunoglobulin therapy: In cases where the immune system is compromised, immunoglobulin therapy may be necessary to improve immune function and prevent infections.
- Skin substitutes: Skin substitutes, such as artificial skin or cultured skin, may be used to cover the defect and promote healing.
- Stem cell therapy: Stem cell therapy is a promising area of research for the treatment of aplasia cutis congenita, and studies are underway to determine the efficacy of this approach.
- Platelet-rich plasma (PRP) therapy: PRP therapy is a newer approach that involves the injection of platelet-rich plasma into the affected area to promote healing and tissue regeneration.
- Hyperbaric oxygen therapy: Hyperbaric oxygen therapy involves the use of high-pressure oxygen to promote healing and tissue regeneration. This therapy may be used in combination with other treatments, such as wound care and surgical intervention.
- Laser therapy: Laser therapy may be used to improve the appearance of scars and reduce the risk of infection in affected individuals.
- Electromagnetic therapy: Electromagnetic therapy, such as pulsed electromagnetic field therapy (PEMF), may be used to promote healing and tissue regeneration in affected individuals.
References
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