Cases reported "Porphyrias"

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1/343. Pseudoporphyria induced by nabumetone.

    Nabumetone is a nonsteroidal anti-inflammatory drug, which has only rarely been associated with photosensitivity. We report a case of bullous lesions arising over photoexposed areas in a patient treated with nabumetone. ( info)

2/343. Variegate porphyria with unusual neurologic manifestations.

    A 62-year-old man with variegate porphyria is reported. This is the first case to be described in greece. Apart from the common features of the disease this patient exhibited sensory loss of the syringomyelic type. Though variegate prophyria with neurologic manifestations is not uncommon syringomyelic type of sensory loss is most unusual. ( info)

3/343. Pseudoporphyria induced by propionic acid derivatives.

    BACKGROUND: Pseudoporphyria is a photosensitive bullous skin disease that is distinguished from porphyria cutanea tarda (PCT) by its normal porphyrin profile. Drugs are a major cause of this disease, and the list of culprits is continually expanding. Nonsteroidal antiinflammatory agents (NSAIDs), especially naproxen and other propionic acid derivatives, appear to be the most common offenders. OBJECTIVE: The study was carried out to increase awareness about the etiology and characteristic features of pseudoporphyria. methods: We report two cases of pseudoporphyria caused by naproxen and oxaprozin. We review the current English language literature on this entity and discuss its clinical features, histology, ultrastructure, etiology, and pathophysiology. RESULTS: A 44-year-old man taking naproxen for chronic low back pain and a 20-year-old woman on oxaprozin for rheumatoid arthritis presented with tense bullae and cutaneous fragility on the face and the back of the hands. In both, skin biopsy showed a cell-poor subepidermal vesicle with festooning of the dermal papillae. Direct immunofluorescence revealed staining at the dermal-epidermal junction and around blood vessels with IgG in the first case and with IgG, IgA, and fibrin in the second case. urine collections and serum samples yielded normal levels of uro- and coproporphyrins. CONCLUSIONS: Most cases of pseudoporphyria are drug-induced. naproxen, the most common offender, has been associated with a dimorphic clinical pattern: a PCT-like presentation and one simulating erythropoietic protoporphyria in the pediatric population. Other NSAIDs of the propionic acid family can also cause pseudoporphyria. ( info)

4/343. Coexistence of discoid lupus erythematosus and porphyria cutanea tarda.

    A case of coexistent porphyria cutanea tarda and discoid lupus erythematosus is presented. Abnormal urinary porphyrins, the presence of liver fluorescence, chronic alcoholism, fatty metamorphosis of the liver and histologically typical LE with the demonstration of basement membrane fluorescence were present in the patient. awareness of the possible coexistence of these two conditions is of practical significance for the practicing dermatologist. The nature of the relationship between these conditions remains obscure. Is it coincidental or does it represent a common pathophysiological mechanism? Further work on this unique pair of diseases seems indicated. ( info)

5/343. Porphyria precipitated by hydroxychloroquine treatment of systemic lupus erythematosus.

    This case report emphasizes the fact that patients presenting with photosensitivity could have lupus erythematosus or porphyria or both; and since the therapy for one may aggravate the other, extreme caution is indicated. ( info)

6/343. Erthropoietic protoporphyria: first report of cases in the American Nergo.

    The first two cases of erthropoietic protoporphyria in the American Nergo are reported. The eruption was limited to the lips, subungual and periungual areas, which are relatively nonpigmented. Onset was at a later age and length of sun exposure required to produce symptoms was longer than that in most whites with the disease. The different presentation in Negroes is believed to be related to their increased pigmentation. Melanin appears to provide protection because of its free radical formation and absorption of 400 nm electromagnetic radiation. ( info)

7/343. Pseudoporphyria associated with Relafen therapy.

    Various oral medications including nonsteroidal anti-inflammatory drugs (NSAIDs) have been associated with pseudoporphyria, although the pathogenetic basis has not been elucidated. A novel NSAID nabumetone (Relafen) has become popular because of its minimal gastrointestinal side effects. Its association with pseudoporphyria is not reported save for its listing in the Physician's Desk Reference (PDR) as a possible side effect. Biopsies of lesional skin from 4 patients manifesting blisters and erosions on the hands and face within 4 months of starting nabumetone were submitted for light microscopic and immunofluorescent (IF) studies. Histories and serology were obtained. Two patients had rheumatoid arthritis (RA), 1 had mixed connective tissue disease (MCTD), and 1 received diltiazem. All 4 had antinuclear antibodies. Characteristic clinical, light microscopic and IF features in the absence of elevated urine porphyrin levels confirmed a diagnosis of pseudoporphyria in all 4 patients. Biopsies in three patients showed features attributed to underlying connective tissue disease (CTD), including ectasia of the superficial vascular plexus, mild leukocytoclastic vasculitis, superficial and deep perivascular lymphocytic infiltrates with dermal mucinosis, granular deposition of IgM along the dermoepidermal junction indicative of a positive lupus band test, and of IgG and C5b-9 within keratinocytes. Nabumetone (Relafen) can provoke pseudoporphyria; an underlying CTD diathesis may be a predisposing factor. ( info)

8/343. Prevention of premenstrual exacerbation of hereditary coproporphyria by gonadotropin-releasing hormone analogue.

    A 20-year-old Japanese female needed frequent hospitalization due to premenstrual exacerbation of hereditary coproporphyria (HCP). Intranasal buserelin acetate, a gonadotropin-releasing hormone analogue, was given to suppress her menstrual cycles. Her porphyric symptoms subsided dramatically as she became amenorrhoeic. Urinary excretion of porphyrin derivatives fell significantly. She has been free from recurrent attacks, but suffers a minor porphyric attack once in 5 years. However, borderline osteopenia secondary to hypoestrogenism has been noted. Although these analogues are potent in suppressing estrogen-induced porphyric symptoms, due precautions should be taken to avoid bone demineralization in the long-term use. ( info)

9/343. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

    mutation analysis was performed on dna samples of 965 individuals from four different ethnic groups in south africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation polymorphism (HEX-SSCP) method, revealed three previously described and four novel missense mutations. Novel variants V53M and V59M were identified in exon 2, Q127H in exon 3 and R330M in exon 5. The exon 5 variant was identified in one of 13 patients referred for a molecular diagnosis of hereditary haemochromatosis (HH), who tested negative for the known C282Y and H63D mutations. mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. The mutant allele frequency of the C282Y mutation was found to be significantly lower in 73 apparently unrelated VP patients with the R59W mutation than in 102 controls drawn from the same population ( P = 0.005). The population screening approach used in this study revealed considerable genotypic variation in the HFE gene and supports previous data on the involvement of this gene in the porphyria phenotype. ( info)

10/343. Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.

    A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair. ( info)
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