Disease Information for Congenital erythropoetic porphyria (Clinical Manifestations)
CEP, CEP Congenital erythropoietic porphyria, CEP Cong erythropoietic porphy, Congen erythropoietic porphyr, CONGEN ERYTHROPOIETIC PORPHYRIA, Congen photosensitive porphyr, congenital, Congenital Erythropoietic Porphyria, Congenital erythropoietic porphyria (disorder), Congenital Erythropoietic Porphyrias, congenital photosensitive porphyria, Congenital porphyria, Congenital porphyria (disorder), Disease, Gunther, Disease, Gunther's, Erythropoietic porphyria, Erythropoietic porphyria (disorder), Erythropoietic Porphyria, Congenital, Erythropoietic Porphyrias, Erythropoietic Porphyrias, Congenital, erythropoietic uroporphyria, GUNTHER DIS, Gunther Disease, GUNTHERS DIS, Gunthers Disease, Gunther's Disease, Haematoporphyria congenita, Hematoporphyria congenita, Hereditary erythropoietic porphyria, porphyria erythropoietic, PORPHYRIA ERYTHROPOIETIC CONGEN, Porphyria erythropoietica, Porphyria, Congenital Erythropoietic, Porphyria, Erythropoietic, PORPHYRIA, ERYTHROPOIETIC, CONGENITAL, PORPHYRIA, PHOTOSENSITIVE, CONGENITAL, Porphyrias, Congenital Erythropoietic, Porphyrias, Erythropoietic, UROPORPHYRIA, ERYTHROPOIETIC, Uroporphyrinog 3 synthas defic, Uroporphyrinogen III synthase deficiency, UROPORPHYRINOGEN III SYNTHASE, DEFICIENCY OF, UROS DEFICIENCY
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Clinical Manifestations
- Signs & Symptoms
- Facial ulceration/ulcers
- Scarring changes/facial
- Sun exposed areas/face, arms/involved
- Red/erythema skin discoloration
- Blebs/vesicles/skin
- Blisters
- Bulla/bullous rash
- Bullous lesion/local
- Cutaneous manifestations
- Disfiguring/mutilating/scarring skin lesions
- Erythematous generalized rash
- Extensor surfaces/skin manifestations
- Hirsutism
- Hypertrichosis
- Increased scalp hair/growth
- Intracutaneous edema signs
- Mutilating acrodermal areas/digits/nose/ears
- Mutilating/skin lesions/light exposed areas/face
- Photosensitivity/Sunsensitive skin
- Pruritic/itching rash
- Rash
- Rash face/exposed areas/arms/neck
- Rash, erythematous/Sunburn-like
- Residual Scars lower extremity lesions
- Scarring/blistered skin areas
- Skin lesions
- Skin sloughing/denuded/raw/oozing areas
- Skin tears/easy abrasions signs
- Skin trauma sensitive
- Vesicobullous rashes
- Vesicular rash
- Wheal/flare skin reaction/hive
- URINE Color Red
- Splenomegaly
- Diapers stain reddish/pink
- Scarring changes/eyelids
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Course/Progressive/slowly chronic illness
- Onset/Infancy
- Signs & Symptoms
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