Congenital erythropoietic porphyria in three siblings.

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dc.contributor.authorBari, Arfan Ulen_US
dc.date.accessioned2009-05-28T08:04:22Z
dc.date.available2009-05-28T08:04:22Z
dc.date.issued2007-09-09en_US
dc.description.abstractCongenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis.en_US
dc.description.affiliationDepartment of Dermatology, Combined Military Hospital, Muzaffarabad, AJK, Pakistan. albariul@yahoo.comen_US
dc.identifier.citationBari AU. Congenital erythropoietic porphyria in three siblings. Indian Journal of Dermatology, Venereology and Leprology. 2007 Sep-Oct; 73(5): 340-2en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/52066
dc.language.isoengen_US
dc.source.urihttps://www.ijdvl.comen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshConsanguinityen_US
dc.subject.meshFemaleen_US
dc.subject.meshHand --pathologyen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPorphyria, Erythropoietic --geneticsen_US
dc.subject.meshSkin --pathologyen_US
dc.subject.meshTooth Discoloration --pathologyen_US
dc.titleCongenital erythropoietic porphyria in three siblings.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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