Lethal acantholytic epidermolysis bullosa

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Lethal acantholytic epidermolysis bullosa
Synonyms
Pronounce
Specialty	Dermatology, Genetics
Symptoms	Blistering, Skin fragility, Erosions
Complications	Infection, Sepsis, Dehydration
Onset	Neonatal
Duration	Lifelong
Types
Causes	Mutations in the DSP gene
Risks
Diagnosis	Genetic testing, Skin biopsy
Differential diagnosis	Other forms of epidermolysis bullosa
Prevention
Treatment	Supportive care, Wound management
Medication
Prognosis	Poor
Frequency	Rare disease
Deaths	N/A

Lethal Acantholytic Epidermolysis Bullosa (LAEB) is a rare and severe form of Epidermolysis Bullosa (EB), a group of genetic conditions that cause the skin to be very fragile and to blister easily. LAEB is characterized by widespread blistering that leads to significant skin damage, mucosal involvement, and, in many cases, early death. This condition falls under the broader category of dermatological disorders and is considered one of the most severe forms of EB due to its high mortality rate in infancy or early childhood.

Etiology

LAEB is caused by genetic mutations that affect the proteins responsible for the structural integrity and cohesion of the skin and mucous membranes. These mutations are typically inherited in an Autosomal Recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific genes involved in LAEB include those encoding for proteins that are critical for the adhesion between the epidermis and the dermis.

Pathophysiology

The pathophysiology of LAEB involves the disruption of the normal adhesion between the skin layers due to defective or absent proteins. This leads to the formation of blisters and erosions with minimal trauma. The skin's inability to properly adhere results in widespread blistering, which can lead to severe complications, including infections, loss of fluids, and electrolyte imbalances.

Clinical Presentation

Patients with LAEB typically present at birth or shortly thereafter with widespread blistering and areas of missing skin, a condition known as Aplasia Cutis Congenita. The blisters can occur anywhere on the body but are most severe in areas subject to friction or trauma. Other symptoms may include nail dystrophy, mucosal involvement leading to feeding and breathing difficulties, and failure to thrive.

Diagnosis

The diagnosis of LAEB is based on clinical presentation, family history, and laboratory tests. Skin biopsy and immunofluorescence mapping are crucial for visualizing the structural defects in the skin. Genetic testing can confirm the diagnosis by identifying the specific mutations present.

Treatment

There is no cure for LAEB, and treatment focuses on managing symptoms and preventing complications. This includes wound care to prevent infection, nutritional support to promote healing, and pain management. In severe cases, systemic antibiotics may be necessary to control infection, and surgical intervention may be required for complications such as esophageal strictures.

Prognosis

The prognosis for individuals with LAEB is generally poor, with many affected infants dying in the first year of life due to complications such as sepsis or failure to thrive. However, with intensive supportive care, some patients may survive into childhood or adolescence.

See Also

• Epidermolysis Bullosa
• Dermatology
• Genetic Disorders
• Skin Diseases

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