Dermatofibrosis lenticularis disseminata (DLD), also known as the atrophoderma of Pasini and Pierini, is a rare skin condition characterized by the development of multiple small, firm, flat-topped, and pigmented papules on various parts of the body. These papules can coalesce and form larger plaques, which can be disfiguring and lead to psychological distress.
There are several types of DLD, each with unique characteristics and clinical presentations. In this article, we will discuss the different types of DLD and their associated features.
- Classical type: This is the most common type of DLD, which typically occurs in young adults. The papules are usually distributed symmetrically on the trunk and limbs, and they may be itchy or asymptomatic. The color of the papules can vary from brown to black, and they can be up to a few millimeters in size.
- Localized type: This type of DLD is characterized by the development of papules in a specific area of the body, such as the face, neck, or extremities. The papules can be arranged in a linear or grouped pattern and may be associated with hyperpigmentation.
- Systemic type: This is a rare type of DLD that is associated with underlying systemic diseases, such as systemic lupus erythematosus, rheumatoid arthritis, or scleroderma. The papules in this type of DLD are usually distributed on the face, neck, and upper trunk and may be associated with other skin manifestations, such as erythema or telangiectasia.
- Linear type: This type of DLD is characterized by the development of linear streaks of papules along the lines of Blaschko. The papules can be distributed unilaterally or bilaterally and may be associated with hyperpigmentation or hypopigmentation.
- Familial type: This type of DLD is inherited in an autosomal dominant manner and can affect multiple members of a family. The papules in this type of DLD are usually distributed on the trunk and limbs and can be associated with hyperpigmentation or hypopigmentation.
- Non-pigmented type: This is a rare type of DLD where the papules are not pigmented and can be mistaken for other skin conditions such as flat warts. The papules are usually distributed on the trunk and limbs and may be associated with itching.
Causes
Causes of dermatofibrosis lenticularis disseminata, their symptoms, and treatment options.
- Genetics: Dermatofibrosis lenticularis disseminata is a genetic disorder that is inherited in an autosomal dominant manner. This means that if one parent has the defective gene, there is a 50% chance that their children will inherit the condition.
- Mutation in the PDGFRB gene: In some cases, dermatofibrosis lenticularis disseminata has been linked to a mutation in the PDGFRB gene. This gene provides instructions for making a protein that is involved in the regulation of cell growth and division. A mutation in this gene can lead to the abnormal growth of skin cells, resulting in the development of multiple dermatofibromas.
- Hormonal factors: Hormonal changes, such as those that occur during puberty or pregnancy, can trigger the development of dermatofibrosis lenticularis disseminata.
- Sun exposure: Prolonged sun exposure can damage the skin and increase the risk of developing dermatofibromas.
- Inflammation: Inflammation caused by injury or infection can trigger the development of dermatofibromas.
- Immune system disorders: People with immune system disorders, such as HIV/AIDS, are more susceptible to developing dermatofibrosis lenticularis disseminata.
- Chemical exposure: Exposure to certain chemicals, such as arsenic or vinyl chloride, can increase the risk of developing dermatofibromas.
- Trauma: Trauma to the skin, such as repeated scratching or rubbing, can cause the development of dermatofibromas.
- Age: Dermatofibrosis lenticularis disseminata is more common in adults, particularly those over the age of 30.
- Gender: Women are more likely than men to develop dermatofibrosis lenticularis disseminata.
- Family history: A family history of dermatofibrosis lenticularis disseminata increases the risk of developing the condition.
- Diabetes: People with diabetes are more susceptible to developing dermatofibrosis lenticularis disseminata.
- Obesity: Obesity is a risk factor for dermatofibrosis lenticularis disseminata.
- Smoking: Smoking can increase the risk of developing dermatofibromas.
- Poor diet: A poor diet lacking in essential nutrients can contribute to the development of dermatofibromas.
- Medications: Certain medications, such as anticonvulsants or immunosuppressants, can increase the risk of developing dermatofibromas.
- Hormonal therapies: Hormonal therapies, such as those used in the treatment of breast cancer, can increase the risk of developing dermatofibromas.
- Pregnancy: Pregnancy can trigger the development of dermatofibrosis lenticularis disseminata.
- Stress: Chronic stress can weaken the immune system and increase the risk of developing dermatofibromas.
- Genetics combined with environmental factors: While dermatofibrosis lenticularis disseminata is a genetic disorder, environmental factors can also play a role in the development of the condition.
Symptoms
Symptoms associated with DLD, their causes, and potential treatment options.
- Small, flat, scaly lesions on the skin – The most common symptom of DLD is the appearance of small, flat, scaly lesions on the skin, which may be red, brown, or skin-colored. These lesions are usually less than 5mm in diameter, and may have a rough, warty appearance.
- Lesions on the face – DLD lesions tend to occur on the face, particularly around the eyes, cheeks, and forehead. In some cases, lesions may also be present on the neck, chest, and arms.
- Lesions on the palms and soles – In rare cases, DLD lesions may also appear on the palms and soles of the feet.
- Lesions on the nails – DLD may cause nail changes, such as thickening or yellowing of the nails.
- Lesions on the mucous membranes – DLD lesions may occasionally occur on the mucous membranes, such as the inside of the mouth or the genital area.
- Itching – DLD lesions may be mildly itchy, but this symptom is not always present.
- Pain – DLD lesions are usually painless, but in some cases, they may become inflamed and painful.
- Bleeding – DLD lesions may bleed if they are scratched or injured.
- Scarring – DLD lesions may leave scars or pigmentation changes after they heal.
- Symmetrical distribution – DLD lesions tend to occur symmetrically on both sides of the body.
- Slow progression – DLD lesions may develop slowly over time, with new lesions appearing intermittently.
- Familial occurrence – DLD may run in families, suggesting a genetic component to the disease.
- Sun exposure – DLD lesions may be exacerbated by sun exposure, and may be more prominent in areas of the skin that are frequently exposed to the sun.
- Smoking – Smoking has been associated with an increased risk of developing DLD.
- Age – DLD typically occurs in adolescents and young adults, but can occur at any age.
- Gender – DLD affects both men and women equally.
- No systemic symptoms – DLD is a skin-specific condition and does not typically cause systemic symptoms.
Diagnosis
The diagnosis of DFLD can be challenging because the bumps can be similar to other skin conditions. Here is a list of diagnoses and tests that can help to identify DFLD.
- Clinical examination: A doctor may perform a physical examination to evaluate the appearance of the skin bumps.
- Family history: A family history of DFLD can be a strong indicator of the condition.
- Skin biopsy: A skin biopsy involves taking a small sample of skin tissue to examine under a microscope. In DFLD, the biopsy can show characteristic changes in the collagen fibers.
- Histopathology: Histopathology involves examining the tissue samples under a microscope to identify the presence of characteristic changes in the collagen fibers.
- Genetic testing: Genetic testing can confirm the presence of mutations in the LEMD3 gene, which is associated with DFLD.
- Ultrasound: An ultrasound can be used to assess the thickness and structure of the skin.
- X-ray: X-rays can be used to assess the bones for any abnormalities.
- Magnetic resonance imaging (MRI): MRI can help to evaluate the internal structures of the skin and underlying tissues.
- Computed tomography (CT) scan: A CT scan can provide a detailed view of the bones and surrounding tissues.
- Dermoscopy: Dermoscopy involves using a special magnifying device to evaluate the skin lesions.
- Wood’s lamp examination: A Wood’s lamp examination involves using a black light to evaluate the skin lesions.
- Skin culture: A skin culture involves taking a sample of the skin lesion to identify any bacterial or fungal infections.
- Blood tests: Blood tests can help to rule out other conditions that can present with similar symptoms.
- Immunological tests: Immunological tests can be used to rule out autoimmune disorders.
- Skin prick test: A skin prick test can be used to evaluate for any allergic reactions.
- Patch test: A patch test involves applying different substances to the skin to evaluate for any allergic reactions.
- Allergy testing: Allergy testing can be used to identify any food or environmental allergens that may be contributing to the skin lesions.
- Urine analysis: Urine analysis can help to identify any underlying metabolic or kidney disorders.
- Electrocardiogram (ECG): ECG can be used to evaluate the heart for any abnormalities.
- Pulmonary function test: A pulmonary function test can be used to evaluate lung function for any abnormalities.
Treatment
While there is no cure for DLD, there are various treatments that can help manage the symptoms and improve the appearance of the skin. Here are treatments for dermatofibrosis lenticularis disseminata:
- Sun protection: The most important step in managing DLD is to protect your skin from further sun damage by wearing protective clothing and using sunscreen with a high SPF.
- Topical retinoids: Retinoids are a type of vitamin A derivative that can improve skin texture and reduce the appearance of fine lines and wrinkles. Topical retinoids may also help improve the appearance of DLD papules.
- Topical corticosteroids: Corticosteroids are anti-inflammatory medications that can help reduce redness, swelling, and itching in the affected areas of the skin.
- Topical calcineurin inhibitors: Calcineurin inhibitors are medications that can help reduce inflammation in the skin. These medications are often used as an alternative to corticosteroids.
- Cryotherapy: Cryotherapy involves freezing the affected areas of the skin with liquid nitrogen to destroy the abnormal tissue.
- Laser therapy: Laser therapy involves using a laser to destroy the abnormal tissue. This can help improve the appearance of DLD papules.
- Chemical peels: Chemical peels involve applying a chemical solution to the skin to remove the top layer of dead skin cells. This can help improve the appearance of DLD papules.
- Microdermabrasion: Microdermabrasion involves using a special device to remove the top layer of dead skin cells. This can help improve the appearance of DLD papules.
- Dermabrasion: Dermabrasion is a more aggressive form of microdermabrasion that involves using a high-speed brush to remove the top layer of skin. This can help improve the appearance of DLD papules.
- Photodynamic therapy: Photodynamic therapy involves applying a medication to the skin that makes it more sensitive to light. The skin is then exposed to a special light that destroys the abnormal tissue.
- Oral retinoids: Oral retinoids are a type of vitamin A derivative that can help improve the appearance of DLD papules. However, these medications can have significant side effects and are usually only used in severe cases.
- Oral corticosteroids: Oral corticosteroids are anti-inflammatory medications that can help reduce redness, swelling, and itching in the affected areas of skin. However, these medications can have significant side effects and are usually only used in severe cases.
- Oral antibiotics: Oral antibiotics can help reduce inflammation in the skin and prevent infections. These medications are often used in combination with other treatments for DLD.
- Oral antimalarials: Oral antimalarials are medications that can help reduce inflammation in the skin. These medications are often used in combination with other treatments for DLD.
- Phototherapy: Phototherapy involves exposing the skin to a special type of light that can help reduce inflammation and improve the appearance of DLD papules.
- Ultrasound therapy: Ultrasound therapy involves using high-frequency sound waves to penetrate the skin and destroy the abnormal tissue. This can help improve the appearance of DLD papules.
- Electrosurgery: Electrosurgery involves using a special device to destroy the abnormal tissue with an electric
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