Skin is not involved in –
Correct Answer: Acute intermittent porphyria
Description: Ans. is 'c' i.e., Acute intermittent porphyriaType of PorphyriaNeuropsychiatric symptomsSkin symptoms/PhototoxicityA. Hepatic porphyrias1) Acute intermittent porphyria2) 5-ALA dehydratase deficiency3) Hereditary coproporphyria4) Variegate porphyria5) Porphyria cutanea tarda++++---+++B. Erythropoietic porphyrias1) Erythropoietic protoporphyria2) Congenital erythropoietic porphyria3) X-linked sideroblastic anemia---++-Porphyriaso Porphyrias are heterogenous group of disorders characterized by defective metabolism of porphyrins. Porphyrins are important intermediates in biosynthesis of heme from glycine and succinyl CoA. Each step is controlled by specific enzyme. So, prophyrias are due to inherited or acquired deficiency of enzymes in heme bio-synthetic pathways (also called porphyrin pathway). They manifest with either neurological complications or skin problems (or rarely both). Based on the site of overproduction and accumulation of porphyrins, porphyrias are broadly classified asAcute (hepatic prophyria)Acute intermettant porphyria5-ALA dehydratase deficiencyHereditary CoproporphyriaVariegate porphyriaPorphyria cutanea tardaCutaneous (erythropoeitic) porphyriaErythropeitic protoporphyriaCongenital erythropoeitic porphyriaX-linked sideroblastic Anemiao The acute (hepatic) porphyrias primarily affect nervous system resulting in abdominal pain, vomiting, acute neuropathy, seizures, muscle weakenss, psychiatric/mental symptoms (i.e., Hallucination, depression, anxiety, paronoia); and autonomic nervous disturbances like hypertension, tachycardia, constipation, arrhythmias, sweating,o The cutaneous (erythropoietic) porphyrias primarily affect skin causing photosensitivity (photodermatitis) blisters, itching, maculopapular rash. There is no abdominal pain,o There are some variation in above presentation.Following two types of hepatic (acute) porphyrias also affect skin : - Hereditary coproporphyria and varigated porphyria. Therefore these two have both neuropsychiatric as well as skin manifestations.Porphyria cutanea tarda (a hepatic porphyria) does not have neuropsychiatric symptom, rather it has only skin manifestation.X-linked sideroblastic anemia (an erythropoietic porphyria) has neither neuropsychiatric nor skin symptoms.
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