porphyria

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dermatology

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By: naushinaara (110 month(s) ago)

very nice presentation with all relevant information in a short package

Presentation Transcript

Porphyria : 

Porphyria Presented by : Dr. Deepak Kumar

Introduction : 

Introduction The porphyrias are caused by deficiencies of enzymes involved in heme biosynthesis which lead to blockade of the porphyrin pathway and subsequent accumulation of porphyrins and their precursors.

Introduction : 

Introduction Seven major types of porhyria are now recognized . They include acute and non-acute forms.

Classification of porphyrias : 

Classification of porphyrias

Introduction : 

Introduction Cutaneous features are not seen in acute intermittent porphyria (AIP) or the very rare aminolevulinic acid dehydratase (ALA-D) deficient porphyria. Erythropoietic protoporphyria and congenital erythropoietic porphyria are characterized by porphyrins produced mainly in the bone marrow. The reminder are primarily hepatic porhyrias.

Introduction : 

Introduction Excessive concentrations of porhyrins exposed to day-light generate free radicals, leading to cell membrane damage and cell death.

Introduction : 

Introduction The type of cellular damage depends on the solubility and tissue distribution of the porphyrins. Two main patterns of skin damage are seen in the porphyries: accumulation of water soluble uro- and coproporphyrins leads to blistering. accumulation of the lipophilic protoporphyrins leads to burning sensations in the exposed skin.

PORPHYRIA CUTANEA TARDA : : 

PORPHYRIA CUTANEA TARDA :

PCT Epidimiology : 

PCT Epidimiology It is the most common porphyria. It may be acquired (type I) or genetically inherited (typeII). 60% of PCT patients are male, most of whom ingest excess alcohol. Women who develop PCT are often on estrogen-containing medications. Most patients are ≥ 40years, and 66% have evidence of iron overload.

PCT Pathogenesis : 

PCT Pathogenesis Iron overload leads to reduce activity of the uroporphyrinogen decarboxylase enzyme which leads to elevated porphyrin levels, in particular uroporphyrins. Associated disorders Alcoholism Haemochromatosis HCV HIV HBV CMV

PCT Pathogenesis : 

PCT Pathogenesis Familial PCT (typeII) accounts for 10-20 % of cases. It is inherited as an autosomal dominant trait. Most PCT is acquired (typeI) and multifactorial in origin.

PCT Clinical features : 

PCT Clinical features Increased fragility On light-exposed skin Bullae Painfull Heal with crust Atrophic scars, Milia, Mottled pigmentation Other Scarring alopecia (scalp) Hypertrichosis (body), Photo-induced onycholysis Morphoea-like plaques

PCT : 

PCT

PCT : 

PCT

PCT : 

PCT

PCT Pathology : 

PCT Pathology Subepidermal blister with minimal “cell-poor ” dermal inflammatory infiltrate.

PCTInvestigations : 

PCTInvestigations

Investigation : 

Investigation

PCTTreatment : 

PCTTreatment Photoprotection Sunblock Filter films for windows Elinination of risk factors Avoid alcohol Avoid estrogen therapy Treat Hepatitis C Specific treatment Venesection/desferioxamine Low dose chloroquine Erythropoietin in renal failure

Treatment : 

Treatment

Erythropoietic Protoporphyria: : 

Erythropoietic Protoporphyria:

Erythropoietic Protoporphyria Epidemiology : 

Erythropoietic Protoporphyria Epidemiology It is the most common childhood porphyria. It is usually evident by 2 years of age.

Erythropoietic Protoporphyria Pathogenesis : 

Erythropoietic Protoporphyria Pathogenesis Protoporphyrin levels are elevated because of deficient activity of ferrochelatase enzyme.

Erythropoietic Protoporphyria Clinical features : 

Erythropoietic Protoporphyria Clinical features Immediate pain On exposure to sunlight Babies usually present with Crying in sunny weather, or Crying for no obvious reason at night in summer. Few minutes to an hour of sun exposure Discomfort, tingling or itching in exposed skin

Erythropoietic Protoporphyria Clinical features : 

Erythropoietic Protoporphyria Clinical features Childhood Thickening of skin over Metacarpophalangeal and interphalangeal joints Superficial vermicular scarring On the nose, Shallow linear, punctate or small circular scars On cheeks and forehead Radial scars around the lips

Clinical features, complications and base line investigation : 

Clinical features, complications and base line investigation

Erythropoietic Protoporphyria : 

Erythropoietic Protoporphyria

Erythropoietic Protoporphyria : 

Erythropoietic Protoporphyria

Erythropoietic Protoporphyria : 

Erythropoietic Protoporphyria

Erythropoietic Protoporphyria : 

Erythropoietic Protoporphyria

Erythropoietic ProtoporphyriaTreatment : 

Erythropoietic ProtoporphyriaTreatment Photoprotection Symptomatic Antihistamines Analgesics Specific Oral β-carotene PUVA Narrow-band UVB

Treatment : 

Treatment

Congenital Erythropoietic porphyria ( Gunther's disease ): : 

Congenital Erythropoietic porphyria ( Gunther's disease ):

CEP Epidemiology : 

CEP Epidemiology It is a very rare autosomal recessive disorder. Patients usually present during infancy and rarely present in adult life with milder forms.

CEP Pathogenesis : 

CEP Pathogenesis It is caused by elevation of both water-soluble and lipid-soluble porphyrin levels due to deficiency of uroporphyrinogen III synthase enzyme.

CEP Clinical features : 

CEP Clinical features Very severe photosensitivity phototoxic burning and blistering mutilation of light exposed parts. erosion of the terminal phalanges, onycholysis and destructive changes affecting pinna and nose Eyes Keratoconjunctivitis, blepharitis, cataracts, corneal ulcers, ectropion and loss of eyelashes and eyebrows

CEP Clinical features : 

CEP Clinical features Teeth brown (fluoresce under Wood’s light) Bone Decreased bone density, osteopenia and osteolytic lesions resorption of terminal phalanges Haematology haemolytic anaemia

CEP : 

CEP

CEP : 

CEP

CEPTreatment : 

CEPTreatment Photoprotection β-carotene Blood transfusion with hydroxyurea Bone Marrow transplantation

Treatment : 

Treatment

Acute porphyrias : : 

Acute porphyrias :

Acute porphyrias INTRODUCTION : 

Acute porphyrias INTRODUCTION AIP is the most common of the acute porphyries. Its true incidence is unknown as it remains latent and thus undiagnosed in many peoples. VP is less common but , again , latent cases is common. Hereditary coproporphyria (HC) is very rare , as is ALA-D deficient porphyria. As disease in many patients carrying gene for acute porphyria remains latent, overt disease probably occurs in only 10% of abnormal gene carriers.

Acute porphyrias Pathogenesis : 

Acute porphyrias Pathogenesis AIP  porphobilinogen deaminase deficiency. ALA-D deficient porphyria  ALA dehydratase deficiency. VP  protoporphyrinogen oxidase deficiency. HC  coproporphyrinogen oxidase deficiency.

Acute porphyrias Pathogenesis : 

Acute porphyrias Pathogenesis The exact biochemical basis of acute attacks is unknown, and raised ALA levels in plasma are insufficient to induce an acute attack. Polypeptide levels increase during acute attacks and may mediate some of the symptoms. other causes include : infection, pregnancy, excess alcohol consumption and hormonal fluctuation.

Acute porphyrias Clinical features : 

Acute porphyrias Clinical features No dermatological signs in AIP or ALA-D deficient porphyria , because the porphyrins that accumulate are not ring molecules therefore photosensitivity does not occur. Cutaneous features of VP and HC are identical to those seen in PCT. Acute porphyria presents usually after puberty, less than 10 % of patients with overt acute porphyria will develop an acute attack.

Acute porphyrias Clinical features : 

Acute porphyrias Clinical features Acute attack features include: Abdominal pain, nausea, vomiting, constipation, diarrhea. peripheral neuropathy, Paraesthesia, anxiety, seizures, aphonia, muscle and back pain, ascending paralysis. tachycardia, hypertension.

Acute porphyriasTreatment : 

Acute porphyriasTreatment Acute attack Avoid drugs causing acute attack Supportive Analgesia Sedatives Fluid balance Specific I/V haematin or haem arginate

Acute porphyriasTreatment : 

Acute porphyriasTreatment Skin disease β-carotene Narrow-band UVB

Treatment : 

Treatment

Pseudoporphyria: : 

Pseudoporphyria:

Pseudoporphyria : 

Pseudoporphyria In certain settings patient develop blistering and skin fragility identical to PCT with the histologic features but with normal urine and serum porphyrins. Hypertrichosis, dyspigmentation and cutaneous sclerosis do not occur. This condition called  pseudoporphyria.

Pseudoporphyria : 

Pseudoporphyria Most commonly due to medications especially NSAIDs , usually naproxen . other NSAIDs and tetracycline can cause similar picture . Some patient on hemodyalisis develop a similar PCT-like picture.

Pseudoporphyria : 

Pseudoporphyria

Thank you : 

Thank you

Hepatoerythropoietic porphyria : 

Hepatoerythropoietic porphyria

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