Childhood porphyria causing lifelong multilating photosensitivity
نویسندگان
چکیده
منابع مشابه
Photosensitivity skin disorders in childhood.
Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child's skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis. It might indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or a rare group of genetic skin disorders like Xeroderma pigmentosum, Cockayne syndr...
متن کاملIncreased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus.
The association of porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE) is rare. Systemic lupus erythematosus, of complex pathophysiology and pleomorphic clinical manifestations, is similar to PCT regarding photosensitivity. One finding that can differentiate both diseases is the presence of cutaneous blisters, which are rare in SLE, but characteristic of PCT. We report one case...
متن کاملTransient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient
Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C m...
متن کاملInducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation of nonphysiologic isomer I porphyrin metabolites, resulting in ineffective erythropoiesis and devastating skin photosensitivity. Management of the disease primarily consists of supportive measures. Increased activi...
متن کاملPhotosensitivity in epileptic syndromes of childhood and adolescence.
PURPOSE Photosensitivity, a reaction of the brain to external photic stimulation, can be graded from 1 to 4, and is most frequently seen in the first decades of life. This study investigated photosensitivity in children with epilepsy. METHODS A retrospective study performed in the neuropaediatric department of the largest paediatric hospital in Kiel, treating patients at all medical care leve...
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ژورنال
عنوان ژورنال: Indian Journal of Medical Research
سال: 2020
ISSN: 0971-5916
DOI: 10.4103/ijmr.ijmr_1891_19