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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


Skin symptoms

Other clinical findings


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


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;


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


A 14-year-old girl


Mental retardation; clinodactyly; enhanced erythrocyte protoporphyrin concentration


A 7-year-old boy

Severe photosensitivity; skin fragility, blistering, erosions and pronounced scarring in sun-exposed body areas

Brachydactyly; raised proto-porphyrin concentrations;


A 73 years old woman

Cutaneous eruptions to the sun-exposed areas; increased facial pigmentation

Acute abdominal pains and bloating


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


A 35 years old female

Blister formation after sun exposure;

Reddish urine; abdominal pain, nausea, vomiting and seizures; muscular weakness; Amyloid A amyloidosis


A 12-year-old female


Epilepsy; mental retardation; premature adrenarche; death


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


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