Summary about Disease
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is a rare genetic skin disorder characterized by widespread blistering and scaling of the skin at birth. The blistering usually improves with age, but the scaling and thickening (hyperkeratosis) persist throughout life. It is caused by mutations in genes that encode keratins, structural proteins found in skin cells.
Symptoms
At Birth: Widespread blistering, redness (erythroderma), and peeling of the skin.
Infancy and Childhood: The blistering usually decreases, replaced by thick, dark, spiky scales, particularly on the palms, soles, and in skin folds. A characteristic "ridged" or "cobblestone" appearance can develop on the skin.
Throughout Life: Persistent scaling and thickening of the skin (hyperkeratosis), odor due to bacterial overgrowth, increased susceptibility to skin infections, and sometimes nail abnormalities. Heat intolerance can also occur.
Causes
BCIE is caused by mutations in genes that provide instructions for making keratin proteins, specifically keratin 1 (KRT1) and keratin 10 (KRT10). These proteins are vital for the structural integrity of skin cells. Mutations in these genes disrupt the formation of keratin filaments, leading to fragile skin cells that are prone to blistering and abnormal skin development. The inheritance pattern is typically autosomal dominant, meaning that only one copy of the mutated gene is needed to cause the disorder.
Medicine Used
There is no cure for BCIE, and treatment focuses on managing the symptoms. Common treatments include:
Emollients: To moisturize the skin and reduce dryness.
Keratolytics: To help remove scales, such as creams containing urea, lactic acid, or salicylic acid.
Topical retinoids: To reduce scaling and inflammation.
Oral retinoids (e.g., acitretin): May be used in severe cases to reduce scaling and thickening of the skin, but can have significant side effects.
Antibiotics: To treat secondary skin infections.
Antiseptic washes: To reduce bacterial colonization and odor.
Is Communicable
No, BCIE is not communicable. It is a genetic disorder caused by gene mutations and cannot be spread from person to person.
Precautions
Skin Care: Gentle skin care is essential. Avoid harsh soaps, scrubbing, and excessive bathing.
Moisturizing: Frequent application of emollients is crucial to keep the skin hydrated.
Avoiding Irritants: Protect the skin from irritants, allergens, and harsh chemicals.
Sun Protection: Protect the skin from sun exposure with sunscreen and protective clothing.
Preventing Infections: Promptly treat any skin infections to prevent complications.
Temperature Regulation: Because people with BCIE may have difficulty regulating their body temperature, it is important to avoid overheating.
How long does an outbreak last?
The blistering phase is most prominent at birth and in early infancy. While the blistering may lessen over time, the scaling and hyperkeratosis are chronic and persistent throughout life. There are no specific "outbreaks" in the typical sense, but the severity of symptoms can fluctuate depending on factors like season, infection, and overall health.
How is it diagnosed?
Diagnosis of BCIE typically involves:
Clinical Examination: Evaluation of the characteristic skin findings (blistering, erythroderma, scaling).
Skin Biopsy: Microscopic examination of a skin sample can reveal the characteristic histopathological features of epidermolytic hyperkeratosis.
Genetic Testing: To confirm the diagnosis and identify the specific gene mutation.
Timeline of Symptoms
At Birth: Widespread blistering, redness, and peeling.
Infancy: Blistering may decrease, replaced by scaling and thickening of the skin.
Childhood and Adulthood: Persistent scaling and hyperkeratosis, odor, increased susceptibility to skin infections, and potential nail abnormalities. The severity of symptoms can vary throughout life.
Important Considerations
Genetic Counseling: Important for families with BCIE to understand the inheritance pattern and the risk of recurrence in future pregnancies.
Psychosocial Support: Living with a visible skin condition can impact self-esteem and quality of life. Psychosocial support and counseling can be beneficial.
Multidisciplinary Care: Management of BCIE often requires a team approach involving dermatologists, geneticists, and other healthcare professionals.
Research: Ongoing research is focused on developing new and more effective treatments for BCIE.