Congenital erythropoietic porphyria:
This form is inherited as an autosomal recessive form.
Clinical manifestations:
Skin manifestations:
- Skin manifestations begin early in infancy in sun-exposed areas, resulting in a hypersensitivity. Painful pustular lesions heal with a scarring, discolored scarring and damage to the cartilage of the nose, ears and nails.
- Scarlet alopecia (non-inversion).
- Hyperthyroidism with hair on the cheeks, thick eyebrows and long eyelashes (face of the monkey) Urine hand a large amount of copro and uroporferone.
Diagnosis methods:
Congenital bovine porphyria has the following characteristics and can be diagnosed even in early gestational age:
- Red urine in early breastfeeding.
- Photodynamic sensitivity.
- Subsequent anemia.
- Spinal hypertrophy.
- Red teeth in both permanent and temporary teeth.
- Pink red fluorescence in the teeth when exposed to wood rays.
This form is inherited as an autosomal recessive form.
Clinical manifestations:
Skin manifestations:
- Skin manifestations begin early in infancy in sun-exposed areas, resulting in a hypersensitivity. Painful pustular lesions heal with a scarring, discolored scarring and damage to the cartilage of the nose, ears and nails.
- Scarlet alopecia (non-inversion).
- Hyperthyroidism with hair on the cheeks, thick eyebrows and long eyelashes (face of the monkey) Urine hand a large amount of copro and uroporferone.
Diagnosis methods:
Congenital bovine porphyria has the following characteristics and can be diagnosed even in early gestational age:
- Red urine in early breastfeeding.
- Photodynamic sensitivity.
- Subsequent anemia.
- Spinal hypertrophy.
- Red teeth in both permanent and temporary teeth.
- Pink red fluorescence in the teeth when exposed to wood rays.
Labels
skin diseases