Condition Lookup
Sub-Category:
Blistering Skin Diseases
Number of Conditions: 2
Epidermolysis Bullosa
Specialty: Dermatology
Category: Other Dermatologic Conditions
Sub-category: Blistering Skin Diseases
Symptoms:
fragile skin that blisters easily; blisters form after minor trauma or friction; nail deformities and scarring in severe cases
Root Cause:
Genetic mutations affecting structural proteins (e.g., keratin, collagen) that provide skin integrity.
How it's Diagnosed: videos
Skin biopsy with immunofluorescence, genetic testing.
Treatment:
Wound care, prevention of trauma, and pain management.
Medications:
Topical antibiotics – to prevent infections. Pain relievers – for symptomatic relief.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 20 per million live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic inheritance (autosomal dominant or recessive).
Prognosis:
The expected outcome or course of the condition over time.
Variable; depends on the type (mild to life-threatening).
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infections; Malnutrition; Skin cancer in severe forms
Porphyria Cutanea Tarda
Specialty: Dermatology
Category: Other Dermatologic Conditions
Sub-category: Blistering Skin Diseases
Symptoms:
fragile skin on sun-exposed areas; blisters and erosions on hands and face; hyperpigmentation and facial hair growth
Root Cause:
Deficiency in uroporphyrinogen decarboxylase enzyme, leading to porphyrin accumulation and photosensitivity.
How it's Diagnosed: videos
Elevated porphyrin levels in urine or plasma.
Treatment:
Avoidance of triggers, phlebotomy, or low-dose hydroxychloroquine.
Medications:
Hydroxychloroquine – to reduce porphyrin levels.
Prevalence:
How common the health condition is within a specific population.
Rare, more common in individuals with liver disease or alcohol use.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Alcohol use, hepatitis C, iron overload, genetic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Good with treatment; relapses are possible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver damage; Chronic blistering and scarring