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Cutaneous Porphyrias by Mind Map: Cutaneous Porphyrias
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Cutaneous Porphyrias

Because of the presence of phototoxic porphyrins, all cutaneous porphyrias are associated with photosensitivity. The liver accounts for 15% of the heme synthesis, utilizing the synthesis of cytochromes and catalases. The remaining 85% of the synthesis occurs in the bone marrow. Partial enzymatic activity of any of the 8 enzymes of the heme synthesis pathway results in excessive accumulation and excretion of porphyrins and their precursors, porphyrinogens.  

Types

Child

Manifests in Infancy to Childhood Acute photosensitivity shortly after UVR Exposure

CEP, Mode of Inheritance, Autosomal Recessive, Enzyme Defect, Uroporphyrinogen III synthase, Clinical, Skin, Hypertrichosis and Alopecia, Bullae (Photodistributed), Pseudoscleroderma, Mutilation of Facial Skin and Cartilage, Other, Porphyrin Accumulation, Pink or Dar-Red staining of diapers, Erythrodontia, Fluorescence of Blood and Urine (Wood's Lamp), Hemolysis, Hepatosplenomegaly, Upper Right Quadrant Tenderness, + Murphy's Sign, Keratoconjuctivitis and Blindness, Short Stature, Bone Pathological Fractures, Labs, Uroporphyrin I predominates in urine, Erythrocyte porphyrins (EP) distinguish it from PCT (i.e., HEP), Stool porphyrins used for monitoring

HEP, Mode of Inheritance, Autosomal Recessive (homozygous) form of Familial PCT, Enzyme Defect, Uroporphyrinogen decarboxylase, Clinical, Same as PCT

EPP, Mode of Inheritance, Autosomal Dominant, Autosomal Recessive (Heterozygous Mutation), Chromosome Band: 18q21.3, Enzyme Defect, Ferrochelatase, Clinical, Painful phototoxicity due to Protoporphyrin IX, Caused by Visible Light, Petichiae, Purpura, Vesicles, Crusting, Labs, Can't PP with EPP, ZPP (Screening Test), EP

Homozygous VP, Mutilating Photosensitivity, ZPP Elevated

Adult

Manifests after 2nd Decade Chronic Symptoms Appears several days after sun exposure Increased fragility of the skin, scarring, especially on dorsal hands

Neurovisceral Symptoms, PBG, VP, Mode of Inheritance, Autosomal Dominant, Enzyme Defect, Protoporphyrinogen Oxidase, Clinical, PCT-like skin findings (Clinical and Histological), Psychiatric Symptoms, Labs, Stool Protoporphyrinogen, Fluorescence Emission Peak (625-627 nm), Urine (Copro > Uro), Homozygous VP, Mutilating Photosensitivity, ZPP Elevated, HCP, Mode of Inheritance, Autosomal Dominant, Enzyme Defect, Coproporphyrinogen oxidase, Clinical, PCT-like skin findings, Colicky epigastric pain, Psychiatric Symptoms, Labs, Stool Coproporphyrinogen, Urine (Copro > Uro)

Skin Only, PCT, Types, Sporadic (Type I), Mode of Inheritance, Acquired, No DNA mutation in the UROD, Familial, Type II, Mode of Inheritance, Autosomal Dominant (Heterozygous), Type III, Familial variant of PCT I, Biochemically indistinguishable from PCT I, Precipitating Factors, Iron Overload, Alcoholism, Hemochromatosis, Dialysis (ESRD), Estrogen Therapy, Viral Infections, HCV, Poor response to IFN-alpha treatment, HIV, CMV, Hepatic Tumors (Rare), Hexachlorobenzene, "Epidemic" Acquired Porphyria due to this fungicide, Clinical Presentation, Hypertrichosis, Hyperpigmentation, Sclerodermoid Changes, Milia, Alopecia, Dystrophic Calcifications, Non-healing Ulcers, Associations, Cirrhosis, Hepatocellular Carcinoma, Diabetes Mellitus, CTD: SLE, DLE, DM, SSc, Treatment, Phlebotomy, Antimalarials, Chloroquine Diphosphate, Hydroxychloroquine is seldomly utilized and is associated with early relapse, Interferon-alpha, Human recombinant erythropoietin, Deferoxamine (SubQ), Thalidomide, Labs, 24hr Urine Porphyrins, Wood's Lamp gives Pink fluorescence, Red-cell uroporphyrinogen decarboxylase activity, Pseudo-PCT, Causes, Medications, NSAIDs, Naproxen, Diflunisal, Ketoprofen, Nabumetone, Oxaprozin, Mefenamic acid, Rofecoxib, Aspirin, Antibiotics, Nalidixic acid, Tetracycline, Oxytetracycline, Ampicillin-sulbactam, Cefepime, Ciprofloxacin, Antifungals, - Voriconazole], Diuretics, Furosemide, Torsemide, Chlorthalidone, Butamide, Triamterene, Hydrochlorothiazide, Bumetanide, Antiarrhythmics, Amiodarone, Chemotherapy, 5-FU, Imatinib, Immunosuppressants, Cyclosporine, Sulfones, Dapsone, Vitamins, Brewers' yeast, Pyridoxine, Vitamin A derivatives, Etretinate, Isotretinoin, Muscle relaxants, Carisoprodol, Antiandrogens, Flutamide, Contraceptives, Levonorgestrel, Ethinyl estradiol, Narrow-band UVB, UVA (e.g., Tanning Beds), Hemodyalisis, Cola, Associations, Vitiligo, Naproxen, Dyazide, 2 Clinical Patterns, Similar to PCT, But, No Hypertrichosis, No Hyperpigmentation, No Sclerodermoid Changes, Similar to EPP, Children taking Naproxen for JRA, Labs, No porphyrin abnormalities, Exclude Connective Tissue Disease

Labs

Algorithmic Testing

Photosensitivity, Skin Only, Child, Urine Porphyrins, Uroporphyrin I predominates in urine, CEP, Erythrocyte porphyrins (EP), Normal Urine Porphyrins, ZPP, Erythrocyte Porphyrins (EP), EPP, Normal Erythrocyte porphyrins (EP), HEP, Normal ZPP, Consider Pseudo-PCT, Children taking Naproxen for JRA, Consider Connective Tissue Disease, Adult, Urine Porphyrins, Wood's Lamp: Pink Fluorescence, PCT, Red-cell uroporphyrinogen decarboxylase activity, Normal Porphyrin Levels, Consider Pseudo-PCT, Consider Connective Tissue Disease, Neurovisceral + Skin, PBG, Stool Copro, HCP, Stool Proto, VP

By Source

Blood, Erythrocyte porphyrins (EP), CEP, EPP, ZPP (Screening Test), EPP, HEP, Red-cell uroporphyrinogen decarboxylase activity, PCT

Urine, PBG, HCP, VP, Urine Porphyrins, Wood's Lamp gives Pink fluorescence, PCT, Uroporphyrin I predominates in urine, CEP, Child

Feces, Stool Copro, HCP, Stool Proto, VP

By Disease

CEP, Uroporphyrin I predominates in urine, Erythrocyte porphyrins (EP) distinguish it from PCT (i.e., HEP), Stool porphyrins used for monitoring

EPP, Can't PP with EPP, ZPP (Screening Test), EP

Homozygous VP, ZPP Elevated

VP, PBG, Stool Protoporphyrinogen, Fluorescence Emission Peak (625-627 nm), Urine (Copro > Uro)

HCP, Stool Coproporphyrinogen, Urine (Copro > Uro)

PCT, 24hr Urine Porphyrins, Wood's Lamp gives Pink fluorescence, Red-cell uroporphyrinogen decarboxylase activity

Pseudo-PCT, No porphyrin abnormalities, Exclude Connective Tissue Disease