Abstract
Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of skin and neurological symptoms. Here, we reported a 7-year-old boy with homozygous VP and novel mutation on PPOX gene. He was admitted with three episodes of generalized tonic-clonic seizure in the last 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin. The weakness of limbs and brachydactyly were observed. In the follow-up, he had aggressive behavior, learning disability and abdominal pain, particularly around the navel. Eventually, the whole exome sequencing (WES) result reported a novel homozygous pathogenic variant (c.1072G > A p.G358R) in PPOX gene which confirmed the VP. He had been advised to be away from the sun and use sunscreen regularly.
Highlights
The porphyria are a group of genetic rare metabolic disorders which are characterized with a wide range of clinical symptoms based on specific subtype [1]
Hyperpigmentation, fragility and blistering of sun-exposed skin, and thickened skin were observed we reported the first case of homozygous Variegate porphyria (VP) with novel mutation on protoporphyrinogen oxidase (PPOX) gene in Iran
Various skin and neurological symptoms may be found in these patients, which are probably due to different mutations in PPOX genes
Summary
The porphyria are a group of genetic rare metabolic disorders which are characterized with a wide range of clinical symptoms based on specific subtype [1]. The WES result reported a novel homozygous pathogenic variant (c.1072G > A p.G358R) in PPOX gene which indicates the Porphyria Variegate. Cutaneous symptoms, including erosive lesions scars, hyperpigmentation, fragility and blistering of sun-exposed skin, and thickened skin on hands and feet were observed (Fig. 2) He had presented with weakness of limbs, tremor of the legs while walking and brachydactyly. The patient past medical history revealed that he has had developed with skin lesions when he was 2 year old He was admitted to a local hospital and received anti-seizure drug due to episodes of generalized tonic-clonic seizure (GTC). She had a history of delayed developmental milestones and started walking by 3 years old. His first episode of generalized tonic-clonic seizure was occurred when he had 3 years old
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