Vampire Girl Disease in Children Causes Symptoms and Treatment

This could be a sign of Congenital Erythropoietic Porphyria (CEP), also known as the “Vampire Child Disease.” CEP is a rare genetic condition that affects red blood cells and causes both skin and blood-related symptoms.In this guide, we’ll discuss the main causes, symptoms, stages, and diagnosis of CEP. We’ll also explore the available treatment options, nutritional tips for children with CEP, and practical advice for parents to help protect their child’s health and improve their quality of life.

Causes of Congenital Erythropoietic Porphyria (CEP) in Children

Congenital Erythropoietic Porphyria (CEP), also known as “Vampire Child Disease,” is a rare genetic disorder that usually appears during childhood. The main cause of the disease is a genetic mutation that affects the production of heme, the essential component of hemoglobin responsible for carrying oxygen in the blood.

Main Causes:

Genetic Mutation in the UROS Enzyme
- CEP occurs due to mutations in the gene responsible for producing the enzyme Uroporphyrinogen III Synthase (UROS).
- A deficiency or dysfunction of this enzyme causes the accumulation of toxic substances called porphyrins in the body, leading to the symptoms of the disease.
Defective Heme Production
- Heme is a vital part of hemoglobin that carries oxygen to all body organs.
- Any disruption in its production results in porphyrin buildup in the blood, bones, teeth, and skin.
Autosomal Recessive Inheritance
- For the disease to appear, the child must inherit the defective gene from both parents.
- If only one defective copy is inherited, the child becomes a carrier without showing symptoms.
Factors That Worsen the Condition
- Sun exposure: Triggers severe skin inflammation and blistering.
- Frequent infections or injuries: May worsen anemia and related complications.
- Liver or spleen problems: Increase porphyrin accumulation in the body.

Symptoms of Congenital Erythropoietic Porphyria (CEP) in Children

CEP is one of the rarest genetic disorders that appear early in childhood. Its symptoms are very distinctive, which is why it is often referred to as “Vampire Child Disease.”

Key Symptoms:

Severe Photosensitivity (Light Sensitivity)
- The child’s skin reacts strongly to sunlight.
- Even short sun exposure can cause redness, burns, blisters, or ulcers.
Dark or Reddish Urine
- Caused by the accumulation of porphyrins in the body.
Discoloration of Teeth and Bones
- Teeth may appear reddish-brown or violet and often glow under ultraviolet light.
- Bones may also show dark discoloration due to porphyrin buildup.
Skin Ulcers and Scarring
- Wounds heal slowly.
- Over time, repeated blistering can cause scarring, deformities in fingers, or facial changes.
Splenomegaly (Enlarged Spleen)
- May occur due to excessive accumulation of porphyrins in the blood.
Severe Anemia
- Children may experience persistent fatigue, paleness, and rapid heartbeat.
- This happens because red blood cells are destroyed prematurely by excess porphyrins.
Facial and Limb Deformities
- Chronic ulcers and infections may lead to loss of fingers or noticeable changes in facial features.

Stages of Congenital Erythropoietic Porphyria (CEP) in Children

Congenital Erythropoietic Porphyria (CEP), also known as “the vampire child disease,” is a rare genetic disorder that usually appears early in life. The disease progresses through different stages depending on how much porphyrin accumulates in the body, affecting the skin, blood, teeth, and bones.

1. Infancy (first months of life)

The disease may appear immediately after birth or within the first months.
Key signs:

Dark or reddish urine.
Severe photosensitivity, leading to burns or blisters after minimal sun exposure.
Early signs of pallor and fatigue due to anemia.

2. Childhood (1–10 years)

As the child grows, symptoms become more noticeable.
Key signs:

Fragile skin prone to wounds and ulcers.
Scars and deformities on the face and extremities.
Teeth turning reddish-brown and glowing under UV light.
Enlargement of the spleen and recurring anemia.

3. Adolescence

Symptoms of skin and bone involvement become more severe.
Key signs:

Deformities in the fingers or face due to chronic ulcers.
More pronounced anemia with fatigue and weakness.
Some patients may require regular blood transfusions.

4. Adulthood

Without proper treatment, long-term complications develop.
Key signs:

Severe deformities in facial features and extremities.
Bone problems caused by porphyrin accumulation.
Persistent photosensitivity affecting daily life.
Liver and spleen complications due to long-term porphyrin buildup.

Types of Congenital Erythropoietic Porphyria (CEP) in Children

Although CEP is caused by mutations in the UROS gene, the severity and onset can vary, leading doctors to classify the disease into different types:

1. Classic CEP

The most common type.
Appears during infancy (first months or first year of life).
Symptoms: Severe photosensitivity, dark urine, reddish-brown teeth, and variable anemia.

2. Severe Early-Onset CEP

Symptoms appear at birth or even before (in the womb).
Symptoms: Severe skin deformities from birth, life-threatening anemia, frequent blood transfusions, and sometimes early bone marrow transplant.

3. Late-Onset CEP

Very rare.
Symptoms appear later in adolescence or adulthood.
Symptoms: Milder photosensitivity, mild dental discoloration, slight urine changes, and rarely requires regular transfusions.

4. Mutation-Dependent CEP

Severity depends on the exact mutation in the UROS gene.
Strong mutations → very severe symptoms from birth.
Mild mutations → delayed onset with less severe symptoms.

Complications of Congenital Erythropoietic Porphyria (CEP) in Children

CEP doesn’t just affect the skin—it can damage many parts of the body if untreated.

1. Skin Damage

Chronic blisters and wounds after even mild sun exposure.
Repeated infections and ulcers leaving scars and deformities.
Loss of fingers, ears, or nose tissue due to skin destruction.

2. Effects on Teeth and Bones

Teeth become reddish or brown due to porphyrin deposits.
Teeth are usually weaker and more prone to fractures.
Bone deformities may develop over time due to porphyrin accumulation and chronic anemia.

3. Effects on Blood

Chronic anemia makes the child constantly tired and weak.
Some children may require frequent blood transfusions to replace damaged red blood cells.
Enlarged spleen (splenomegaly) occurs due to rapid destruction of red blood cells.

4. Effects on Kidneys and Liver

Porphyrin buildup puts pressure on the kidneys, affecting their function.
Possible long-term liver complications, including liver fibrosis or gallstones.

5. Psychological and Social Effects

The child may feel embarrassed due to skin appearance or teeth discoloration.
Sun sensitivity prevents participation in outdoor play or normal activities.
In some cases, this may lead to social isolation or depression.

Diagnosis of Congenital Erythropoietic Porphyria (CEP) in Children

Diagnosing CEP is difficult because it is very rare, but its distinctive features often help doctors suspect it early. Steps include:

1. Medical History and Physical Examination

Asking parents about skin blisters after sun exposure, teeth discoloration, and anemia.
Checking for skin lesions or deformities in fingers.
Assessing overall health, activity level, and energy.

2. Laboratory Tests

Complete Blood Count (CBC): Shows anemia and low red blood cell count.
Porphyrin tests in blood, urine, and stool:
- High levels of Uroporphyrin I and Coproporphyrin I are key markers.
- Urine often appears dark or red.

3. Genetic Testing (DNA Test)

The most important step to confirm diagnosis.
Detects mutations in the UROS gene, which produces the enzyme uroporphyrinogen III synthase.
Enzyme deficiency leads to porphyrin buildup and disease symptoms.

4. Additional Tests

X-rays: To check for bone deformities or erosion.
Liver and spleen assessment: To detect enlargement or complications.
Dental examination: Shows reddish/brown fluorescence under UV light.

Treatment of Congenital Erythropoietic Porphyria (CEP) in Children with Medications

CEP is a chronic and extremely rare condition, with no complete cure yet. However, several medications and supportive treatments can reduce symptoms, prevent complications, and improve quality of life.

1. Medications for Anemia

Regular blood transfusions: Essential to maintain hemoglobin levels.
Frequent transfusions may cause iron overload, requiring:
- Iron chelators:
  - Deferoxamine
  - Deferasirox
- Aim: Prevent iron accumulation and protect the liver and heart.

2. Medications to Protect Skin from Sunlight

High SPF sunscreen (50+): To reduce photosensitivity.
Antioxidants (e.g., Vitamin E, beta-carotene) may help strengthen the skin against UV damage.

3. Antibiotics (Topical or Oral)

Used when blisters or skin wounds become infected.
Aim: Prevent secondary bacterial infections.

4. Medications to Reduce Porphyrin Accumulation (Experimental)

Hydroxyurea: Helps lower porphyrin production in bone marrow.
Cimetidine: Tried in some cases to reduce porphyrins, but with limited success.

5. Pain Relief and Anti-inflammatory Drugs

To ease pain from skin blisters and inflammation.
Paracetamol (Acetaminophen) or Ibuprofen may be prescribed under medical supervision.

6. Curative (Non-drug) Option

Bone Marrow Transplant (BMT): Currently the only potential cure for CEP.
- A complex procedure requiring specialized medical care and long-term follow-up.

Surgical Treatment of Congenital Erythropoietic Porphyria (CEP) in Children

Congenital Erythropoietic Porphyria (CEP), also known as “the vampire child disease,” is a rare genetic condition that affects bone marrow and hemoglobin production. This makes drug therapy limited in managing symptoms, and in some cases, surgical treatment becomes the most effective solution.

1. Bone Marrow Transplant (BMT)

The main and only curative surgical treatment for CEP.
Concept: Replacing the defective bone marrow with healthy marrow from a compatible donor (often a first-degree relative).
Outcome:
- Stops abnormal porphyrin production.
- Gradual disappearance of skin symptoms and photosensitivity.
- Significant improvement in anemia and reduced need for frequent blood transfusions.
Note: Best results are achieved if the transplant is performed at a young age before complications such as liver fibrosis or bone deformities develop.

2. Splenectomy

Considered when the spleen is severely enlarged and destroys red blood cells too quickly, worsening anemia.
Helps reduce hemolysis but is not a definitive cure.
Often used as a supportive procedure before or after bone marrow transplant.

3. Liver Transplant

Rarely performed, but may be necessary if liver failure occurs due to excessive porphyrin and iron accumulation.
In some advanced cases, liver transplant is combined with bone marrow transplant for better long-term outcomes.

4. Reconstructive or Cosmetic Surgery

Some children develop facial deformities (nose, ears, lips) due to chronic sun-related ulcers.
Reconstructive surgery improves appearance and overall quality of life.

How to Manage CEP in Children

Managing CEP requires long-term medical, psychological, and social care. Proper management helps reduce complications and improve the child’s quality of life.

1. Sun Protection

The most important step to reduce skin lesions and photosensitivity.
Avoid direct sunlight and strong artificial light.
Use protective clothing: long sleeves, wide-brimmed hats, and sunglasses.
Apply high-SPF sunscreens (SPF 50+).

2. Skin Care

Avoid scratches and injuries as the skin is very fragile.
Use medical moisturizers to reduce dryness and ulcer formation.
Treat blisters or infections promptly with antibiotics or as prescribed by a doctor.

3. Managing Anemia

Anemia is common in CEP.
Children may require regular blood transfusions depending on severity.
Monitor iron levels to avoid iron overload.
Splenectomy may be considered to reduce red blood cell destruction.

4. Nutritional Support

Balanced diet rich in protein, vitamins, and moderate iron.
Stay well-hydrated.
Avoid foods or medications that worsen photosensitivity (as guided by the physician).

5. Regular Medical Follow-up

Frequent check-ups with dermatologists and hematologists.
Routine tests for porphyrin levels in blood and urine.
Imaging of liver and spleen to detect complications early.

6. Psychological and Social Support

Because CEP is rare and unusual, children may feel isolated or face bullying.
Family support is essential:
- Explain the condition to the child in a simple way.
- Encourage them to live as normally as possible.
- Work with schools to create a safe environment and protect them from sun exposure.

7. Definitive Treatment

Bone marrow transplant remains the only curative option.
Not suitable for every child, but highly effective in severe cases.

Nutrition for Children with CEP

While diet does not cure CEP, proper nutrition helps improve blood health, strengthen immunity, and protect the skin.

1. Moderately Iron-Rich Foods

Lean red meat, poultry, and fish.
Eggs.
Legumes such as lentils, chickpeas, and beans.
Benefit: Supports red blood cell production and reduces anemia, but should be balanced to avoid excess porphyrin accumulation.

2. Foods Rich in Folate (Vitamin B9)

Dark leafy greens like spinach, broccoli, and lettuce.
Fruits such as bananas and oranges.
Whole grains.
Benefit: Supports red blood cell production and reduces anemia symptoms.

3. Foods High in Vitamins C and E

Citrus fruits (oranges, kiwi, grapefruit).
Nuts, olive oil, avocado.
Benefit: Natural antioxidants that protect skin from porphyrin damage and reduce sun sensitivity.

4. Adequate Hydration

Encourage frequent water intake.
Benefit: Keeps skin and liver healthy, and supports overall body function.

5. General Dietary Tips

Small, balanced meals throughout the day to maintain energy.
Avoid processed foods and excessive sugar, which may burden the liver and worsen photosensitivity.
Vitamin and mineral supplements may be prescribed by the doctor if necessary.