Cases | Skin symptoms | Other clinical findings | Refs |
---|---|---|---|
A 30-year-old woman | Repeated vesicles and brownish pigmentation; brownish pigmentations and crusts in hands and forearms | Weakness and dysesthesia in all limbs; hallucination; urinary disturbance; dark-red urine | [7] |
A 9-month girl | Blistering of the face and hands; erosions; crusting; pigmentation and milia; scarring of sun-exposed areas; thickened and infiltrated skin | Elevated erythrocyte protoporphyrin; marked foreshortened; stubby fingers and toes; brachydactyly; delayed motor development; | [8] |
A male infant | Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; | Epilepsy; developmental delay; nystagmus and clinodactyly | [8] |
A 14-year-old girl | Photosensitivity | Mental retardation; clinodactyly; enhanced erythrocyte protoporphyrin concentration | [9] |
A 7-year-old boy | Severe photosensitivity; skin fragility, blistering, erosions and pronounced scarring in sun-exposed body areas | Brachydactyly; raised proto-porphyrin concentrations; | [10] |
A 73 years old woman | Cutaneous eruptions to the sun-exposed areas; increased facial pigmentation | Acute abdominal pains and bloating | [11] |
A 25-year-old female | Rash; bullous lesions in the light exposed area | Dark coloured urine; nausea and vomiting; afebrile; attack of abdominal pain; constipation | [12] |
An Italian case | Photosensitivity; photomutilations; | mental retardation; aphasia and aggressivity | [13] |
A 35 years old female | Blister formation after sun exposure; | Reddish urine; abdominal pain, nausea, vomiting and seizures; muscular weakness; Amyloid A amyloidosis | [14] |
A 12-year-old female | Blisters | Epilepsy; mental retardation; premature adrenarche; death | [15] |
A 23-year-old female | Itchy blisters in face and upper limbs; scarring; erythematous maculopapular lesions; cutaneous porphyria, cutaneous lupus, drug-induced photosensitivity, epidermolysis bullosa acquisita and actinic prurigo | Excess protoporphyrin and coproporphyrin in stool | |
A 36-year-old woman | cutaneous manifestations; photosensitivity | Elevated erythrocyte protoporphyrin | [16] |
A 24-year-old female | Blisters; superficial erosions; haemorrhagic crusts, milia and patchy hyper pigmentation of the extensor sites of fingers and hands; skin fragility | No neurological symptoms; enhanced urinary coproporphyrin; faecal protoporphyrin excretion; decrease of porphobilinogen deaminase activity; dark urine; coproporphyrin and faecal protoporphyrin excretion |