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(Q80.3) Congenital bullous ichthyosiform erythroderma
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16 951 in individuals diagnosis congenital bullous ichthyosiform erythroderma confirmed
1 607 deaths with diagnosis congenital bullous ichthyosiform erythroderma
10% mortality rate associated with the disease congenital bullous ichthyosiform erythroderma
Diagnosis congenital bullous ichthyosiform erythroderma is diagnosed Men are 19.34% more likely than Women
10 115
Men receive the diagnosis congenital bullous ichthyosiform erythroderma
995 (9.8 %)Died from this diagnosis.
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6 836
Women receive the diagnosis congenital bullous ichthyosiform erythroderma
612 (9.0 %)Died from this diagnosis.
Risk Group for the Disease congenital bullous ichthyosiform erythroderma - Men and Women aged 0
In Men diagnosis is most often set at age 0-49, 60-64, 70-84
Less common in men the disease occurs at Age 50-59, 65-69, 85-95+Less common in women the disease occurs at Age 40-49, 60-79, 85-95+
In Women diagnosis is most often set at age 0-39, 50-59, 80-84
Disease Features congenital bullous ichthyosiform erythroderma
Absence or low individual and public risk
Congenital bullous ichthyosiform erythroderma - what does this mean
Congenital bullous ichthyosiform erythroderma is a rare skin disorder caused by a genetic mutation that affects the development of the skin barrier and results in abnormal skin scaling, blistering, and redness. it is usually diagnosed at birth or shortly thereafter and can be associated with other medical conditions.
What happens during the disease - congenital bullous ichthyosiform erythroderma
Congenital bullous ichthyosiform erythroderma is a rare genetic disorder caused by mutations in the genes that encode for proteins involved in the formation of the skin barrier. these mutations lead to the production of abnormal proteins, which cause the skin to become fragile and blister easily. the blisters can be filled with clear or yellow fluid, which can lead to severe skin inflammation and infection. the affected skin may also become thickened, scaly, and red. in some cases, the disorder can cause scarring and alopecia.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Skin biopsy to evaluate the condition of the skin
- Blood tests to check for any underlying medical conditions
- Genetic testing to detect any genetic mutations
- Skin culture to identify any bacterial or fungal infections
- Imaging tests such as X-rays or MRI to rule out any underlying causes
- Patch testing to identify any contact allergens
- Phototesting to identify any photosensitivity
Treatment and Medical Assistance
Main goal: To reduce symptoms and improve the patient's quality of life.
- Use topical emollients and moisturizers.
- Avoid exposure to irritants and allergens.
- Use topical corticosteroids.
- Use topical antibiotics.
- Use topical antifungal agents.
- Use systemic antibiotics.
- Use systemic antifungal agents.
- Use systemic retinoids.
- Use phototherapy.
- Use immunosuppressants.
- Undergo skin grafting.
15 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Congenital bullous ichthyosiform erythroderma - Prevention
The best way to prevent congenital bullous ichthyosiform erythroderma is to seek genetic counseling prior to conception. genetic testing can be done to determine if either parent is a carrier of the condition. if both parents are found to be carriers, then it is recommended to seek out alternative methods of conception, such as in vitro fertilization with preimplantation genetic diagnosis.