Porphyria Cutanea Tarda Presenting Research Articles

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions

Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation mostly on the photo-exposed sites. A urine fluorescence of coral red color helps in the diagnosis. Here, we present a rare case of porphyria cutanea tarda in a 15 years old male who presented with multiple targetoid plaques.Keywords: Erythema-multiforme; porphyria cutanea tarda; targetoid.

Porphyria cutanea tarda presenting with sclerodermatous changes and scarring alopecia

Porphyria cutanea tarda presenting with sclerodermatous changes and scarring alopecia

Sclerodermoid changes and dystrophic calcification: A unique presentation of porphyria cutanea tarda

Sclerodermoid changes and dystrophic calcification: A unique presentation of porphyria cutanea tarda

A Case of Porphyria Cutanea Tarda Presenting with Pigmentation

A Case of Porphyria Cutanea Tarda Presenting with Pigmentation

Familial and Sporadic Porphyria Cutanea Tarda

Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case.

Localized sclerosis of the scalp (alopecia porphyrinica) as predominant presentation of porphyria cutanea tarda

Journal of the European Academy of Dermatology and VenereologyVolume 21, Issue 8 p. 1125-1127 Localized sclerosis of the scalp (alopecia porphyrinica) as predominant presentation of porphyria cutanea tarda SIL Volksbeck, SIL Volksbeck Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorD Nashan, D Nashan Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorL Bruckner-Tuderman, L Bruckner-Tuderman Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorM Braun-Falco, Corresponding Author M Braun-Falco *Corresponding author, Department of Dermatology, University Freiburg, Hauptstraße 7, 79104 Freiburg, Germany, tel. +49-761-270-6771; fax +49-761-270-6829; E-mail: [email protected]Search for more papers by this author SIL Volksbeck, SIL Volksbeck Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorD Nashan, D Nashan Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorL Bruckner-Tuderman, L Bruckner-Tuderman Department of Dermatology, University Freiburg, Freiburg, Germany.Search for more papers by this authorM Braun-Falco, Corresponding Author M Braun-Falco *Corresponding author, Department of Dermatology, University Freiburg, Hauptstraße 7, 79104 Freiburg, Germany, tel. +49-761-270-6771; fax +49-761-270-6829; E-mail: [email protected]Search for more papers by this author First published: 02 August 2007 https://doi.org/10.1111/j.1468-3083.2006.02113.xCitations: 8 DOI: 10.1111/j.1468-3083.2006.02113.x Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume21, Issue8September 2007Pages 1125-1127 RelatedInformation

Bullous amyloidosis in a hemodialysis patient is myeloma-associated rather than hemodialysis-associated amyloidosis

We report a 78-year-old woman on hemodialysis who presented with refractory multiple pruritic vesicles and bullae on her trunk and extremities for 2 months. Histopathologic examination of skin biopsy specimen showed subepidermal bullae with many amyloid deposits in the papillary dermis. No evidence of systemic amyloidosis could be found on physical examination. While the initial clinical diagnosis was bullous pemphigoid, the histopathology and direct immunofluorescence result favored hemodialysis-associated amyloidosis. However, immunochemical study for β2-microglobulin was negative. Further hematologic and immunologic work-up revealed the presence of multiple myeloma and that the deposit was AL amyloid. This is the first case of bullous amyloidosis in a hemodialysis patient and should remind dermatologists that bullous amyloidosis should be considered in addition to the usual presentation of porphyria cutanea tarda and pseudoporphyria for bullous dermatosis in the hemodialysis patient. We also suggest that hemodialysis-associated amyloidosis should not be taken for granted in the hemodialysis patient with cutaneous amyloidosis without systemic signs and symptoms. Further testing for other types of amyloid should be performed.

Porphyria cutanea tarda presenting as cicatricial conjunctivitis

PURPOSE: To report a case of porphyria cutanea tarda presenting as cicatricial conjunctivitis. DESIGN: Observational study. METHODS: A 31-year-old man presented with bilateral inferior symblepharon, superior tarsal conjunctival scarring and concretions, and recurrent conjunctival and episcleral injection. RESULTS: Four years after initial presentation, the patient developed hepatitis C, and 2 years later blisters on his scalp and hands. Direct immunofluorescence studies of biopsies taken from the palpebral conjunctiva of the right lower lid were negative for cicatricial pemphigoid. A twenty-four hour urine specimen analysis revealed elevated levels of uroporphyrins and polycarboxylated porphyrins, confirming the diagnosis of porphyria cutanea tarda. The patient was treated with repeated phlebotomies and oral hydroxychloroquine, which resulted in a significant decrease in the skin lesions, conjunctival injection, and concretions under the upper lids. CONCLUSIONS: Cicatricial conjunctivitis may be a manifestation of porphyria cutanea tarda.

Porphyria Cutanea Tarda Presenting as ‘Neurotic Excoriations’

Porphyria Cutanea Tarda Presenting as ‘Neurotic Excoriations’