junctional epidermolysis bullosa with pyloric atresia

Junctional Epidermolysis Bullosa with Pyloric Atresia (EB-PA) is a rare and severe genetic disorder that affects the skin and digestive tract. It is characterized by:

• Generalized blistering at birth: EB-PA is a subtype of junctional epidermolysis bullosa (JEB) that presents with widespread blisters on the skin at birth.
• Congenital pyloric atresia: This condition is also associated with a congenital obstruction of the pylorus, which is the passage between the stomach and small intestine.

This rare disorder is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to inherit it. EB-PA is considered a distinct entity within the broader category of epidermolysis bullosa (EB) disorders.

Key Features:

• Severe skin blistering at birth
• Congenital pyloric atresia
• Autosomal recessive inheritance pattern

References:

[1] [2] [3] [4] [5]

Note: The numbers in square brackets refer to the context search results provided, which were used to generate this answer.

Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare and severe form of junctional epidermolysis bullosa, characterized by fragility of the skin and mucous membranes. The signs and symptoms of JEB-PA can be severe and life-threatening.

Common Signs and Symptoms:

• Widespread blistering at birth [12]
• Congenital pyloric atresia (obstruction of the lower part of the stomach) [6][14]
• Vomiting [2]
• Swollen (distended) abdomen [2]
• Absence of stool [2]
• Severe mucocutaneous fragility [13]
• Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway [11]

Other Possible Signs and Symptoms:

• Rudimentary ears [8]
• Nail dystrophy and loss [8]
• Pyloric atresia is usually evident within the first days-week of life [8]
• May have problems with fluid and electrolytes, as well as sepsis [9]
• Protein-losing enteropathy [10]

It's essential to seek immediate medical attention if you suspect JEB-PA in a newborn. Early diagnosis and treatment can improve outcomes, but the condition is often severe and life-threatening.

References: [2] - Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. [6] - This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, ... [8] - Severe phenotypes can present with rudimentary ears. Nail dystrophy and loss. Pyloric atresia is usually evident within the first days-week of life. May have ... [9] - There is widespread generalized blistering, mucosal involvement, and often problems with fluid and electrolytes, as well as sepsis. Exuberant granulation tissue ... [10] - Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. [11] - Summary. Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. [12] - Junctional epidermolysis bullosa (JEB) affects the part of the skin at the most interior layer of the epidermis. This type of EB may be severe, with symptoms ... [13] - Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction. [14] - Pyloric atresia (obstruction of the lower part of the stomach) ... Also see a healthcare provider for any signs of infection such as chills, fever, or red, painful, foul-smelling skin.

Diagnostic Testing for Junctional Epidermolysis Bullosa with Pyloric Atresia

J

**Current Drug Treatments

Differential Diagnosis of Junctional Epidermolysis Bullosa (JEB) with Pyloric Atresia

Junctional epidermolysis bullosa (JEB) is a rare genetic disorder characterized by skin blistering and fragility. In some cases, JEB can be associated with pyloric atresia, a condition where the pylorus, the passage between the stomach and small intestine, is blocked. The differential diagnosis of JEB with pyloric atresia involves identifying other conditions that may present similar symptoms.

Conditions to Consider

• Pyloric stenosis: A condition where the pylorus is narrowed or blocked, leading to vomiting and abdominal distension.
• Gastrointestinal obstruction: Any blockage in the digestive tract can cause similar symptoms to pyloric atresia.
• Intestinal atresia: A congenital defect where a portion of the intestine is missing or blocked.
• Other genetic disorders: Certain genetic conditions, such as epidermolysis bullosa with pyloric atresia (EB-PA), can present with similar symptoms to JEB with pyloric atresia.

Key Differences

• Genetic testing: Genetic testing can help differentiate between JEB and other conditions. For example, mutations in the ITGA6, ITGB4, or PLEC genes are associated with EB-PA.
• Immunofluorescence mapping: This diagnostic tool can help identify the presence of specific proteins involved in skin fragility and blistering.

References

• [3] Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than genetic mutations.
• [9] Differential Expression of Pyloric Atresia in Junctional Epidermolysis Bullosa with ITGB4 Mutations Suggests that Pyloric Atresia is due to Factors Other than Genetic Mutations.