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Table 1 The most common clinical symptoms of VP reported by previous studies

From: A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review

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
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