Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C

Abstract: A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported. Chronic hepatitis C and presence of high levels of porphyrins in urine were demonstrated. There was complete remission with the use of hydroxychloroquine, photoprotection, and treatment of hepatitis. Significant sclerodermoid involvement of the skin as a manifestation of porphyria cutanea tarda secondary to hepatitis C emphasizes the importance of diagnostic suspicion regarding skin manifestation in order to indicate the appropriate therapy, and to minimize the hepatic morbidity.

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.

Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars. Porphyria cutanea tarda occurs in relation to inhibition of uroporphyrinogen decarboxylase, a key enzyme in the heme biosynthesis pathway. A number of genetic and acquired factors increase susceptibility to PCT by reducing uroporphyrinogen decarboxylase activity. A handful of other vesiculobullous conditions may mimic PCT both clinically and histologically; therefore, both skin biopsy and laboratory evaluation are helpful in confirming the diagnosis. We report a case of PCT in the setting of cigarette usage and untreated hepatitis C infection.

Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.

Mechanobullous epidermolysis bullosa acquisita (mEBA) can have a clinical presentation that is very similar to other blistering diseases, such as porphyria cutanea tarda (PCT) and pseudoporphyria. Direct immunofluorescence is an important feature in the diagnosis of mEBA, although features that overlap with PCT and pseudoporphyria have been reported. This retrospective observational study investigated whether direct immunofluorescence can discriminate mEBA from PCT and pseudoporphyria. Biopsies of 13 patients with mEBA, 10 with PCT and 10 with pseudoporphyria were included. In 7 cases of PCT and 4 of pseudoporphyria, direct immunofluorescence showed a pattern at the dermal-epidermal junction that appeared similar to the u-serrated pattern in mEBA. Vessel wall depositions were observed in all 3 diseases, but were more frequent and more intense in PCT and pseudoporphyria than in mEBA. Careful examination of direct immunofluorescence of mEBA vs. PCT and pseudoporphyria revealed different staining patterns, although overlapping features were present. Therefore, integrating all clinical and laboratory data is essential to differentiate between mEBA, PCT and pseudoporphyria.

Porphyria cutanea tarda in a HIV- positive patient

Abstract: This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of uroporphyrinogen decarboxylase (Urod), which may be hereditary or acquired. Several studies suggest that HIV infection associated with cofactors might trigger the development of porphyria cutanea tarda. In this case report, we present a patient infected with HIV, who after the introduction of antiretroviral therapy (ART) enjoyed clinical improvement of porphyria cutanea tarda symptoms.

High-yield biopsy technique for subepidermal blisters.

Dermatologists often perform 2 biopsies in patients with widespread tense blisters: one for light microscopy and another for direct immunofluorescence (DIF). Biopsy techniques recommended for blistering diseases with tense blisters are discussed, and illustrations demonstrate an alternative approach utilizing a single punch biopsy. A single punch biopsy is more cost effective and provides the same diagnostic information as the standard 2-biopsy approach for subepidermal blisters plus additional salt-split skin-like diagnostic information. A limitation for bisecting the single punch biopsy specimen is a potential complete separation of the epidermis from the dermis. The single punch biopsy technique is a simple cost-effective method for obtaining necessary diagnostic information when sampling tense blisters in patients with blistering diseases.

Porphyria cutanea tarda and Sjogren's syndrome.

Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.

Porphyria cutanea tarda and Sjogren's syndrome

Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.

[Sclerodermatous changes in porphyria cutanea tarda: six cases]. / Lésions sclérodermiformes dans la porphyrie cutanée tardive : six observations.

BACKGROUND: The clinical features of porphyria cutanea tarda (PCT) are usually distinctive and include blistering on sun-exposed areas, fragile skin, hypertrichosis and hyperpigmentation. Sclerodermatous changes are much less common, and may either reveal PCT or else appear later. We carried out a retrospective study of the files of six female patients presenting such lesions. PATIENTS AND METHODS: Six women (age: 45 to 72 years) were referred for sclerodermatous lesions on sun-exposed areas of the upper body. In four patients, these lesions revealed PCT and in the remaining two patients they were indicative of previously treated but relapsing PCT. Four had sclerodermatous skin changes mimicking morphea of the neck and neckline, the top of the back and the face, while one presented more diffuse facial and cervical sclerosis. Associated alopecia was seen in three patients. The last patient presented isolated sclerodermiform alopecia. Associated malar hypertrichosis was seen in five cases and facial hyperpigmentation was noted in three cases. Four exhibited no blisters, cutaneous fragility, milia or photosensitivity. Histological findings were consistent with morphea or scleroderma in all cases. All patients presented abnormal liver tests: cirrhosis was present in four cases (primitive biliary cirrhosis, alcoholic cirrhosis and hepatitis C) and fatty liver in two cases. In four cases, there was excessive alcohol intake. Uroporphyrin levels were above the normal range in all cases. Local corticosteroid therapy associated with phlebotomy and/or low-dose hydroxychloroquine resulted in complete normalisation of porphyrin levels in four patients, with complete resolution of the cutaneous lesions in two patients and partial improvement in the other two. DISCUSSION: Sclerodermatous changes are uncommon in PCT. They are not always late and secondary to the process of healing of blisters but can in fact constitute the first cutaneous symptom of the disease while revealing the underlying liver disease. Even in the absence of blisters, photosensitivity or cutaneous fragility, a diagnosis of PCT must be suspected in a setting of sclerodermatous changes distributed on the neck and face, or the neckline, or scarring alopecia, if associated with abnormal liver tests. Skin biopsy to confirm the diagnosis of scleroderma may delay the diagnosis, which is in fact based on porphyrin level. Normalization of the latter parameter under treatment allows regression of lesions.

Porphyria cutanea tarda presenting as scleroderma.

Sclerodermatous skin changes were observed in a patient with porphyria cutanea tarda (PCT) who initially was diagnosed as having progressive systemic sclerosis (PSS). In extremely rare circumstances, patients with PCT initially are misdiagnosed as having generalized morphea, or PSS, because they lack the typical skin findings of PCT, such as blisters, skin fragility, scarring on the dorsal aspects of the hands, and facial hypertrichosis. However, even in cases of PCT that clinically mimic and are misdiagnosed as PSS, the sclerodermatous skin changes primarily occur in v-shaped areas of the neck. Our patient had sclerodactyly with fingertip ulcerations as well as the classic facial features and skin tightness of PSS. Upon initiation of therapeutic phlebotomy, fingertip ulcerations and sclerodactyly resolved, and there was a notable improvement of sclerodermatous skin changes of the face and forearms.

Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: a literature review.

BACKGROUND: Some porphyrias are associated with cutaneous phototoxicity due to photoactivation of porphyrins, but whether ionizing radiation can have an additive effect is not clear. We report a case of severe radiation therapy-related toxicity in a patient with porphyria cutanea tarda and review the literature. METHODS: A 50-year-old man with porphyria cutanea was treated for lower lip squamous cell carcinoma with definitive radiation therapy. During radiation therapy, acute toxicity was of an expected onset and severity. Six months after treatment completion, he developed skin hypopigmentation, soft tissue fibrosis, and areas of painful denuded skin and crusting within the previous treatment field. RESULTS: Reports of 7 patients with porphyria receiving radiation therapy to at least 9 separate sites were reviewed, with only 1 previous report suggestive of increased radiation therapy-related toxicity. CONCLUSION: Based on this and 1 other report, caution is warranted when considering radiation therapy in patients with active porphyria.

Blistering skin conditions.

BACKGROUND: Blistering of the skin can be due to a number of diverse aetiologies. Pattern and distribution of blisters can be helpful in diagnosis but usually biopsy is required for histopathology and immunofluoresence to make an accurate diagnosis. OBJECTIVE: This article outlines the clinical and pathological features of blistering skin conditions with a particular focus on bullous impetigo, dermatitis herpetiformis, bullous pemphigoid and porphyria cutanea tarda. DISCUSSION: Infections, contact reactions and drug eruptions should always be considered. Occasionally blistering may represent a cutaneous manifestation of a metabolic disease such as porphyria. Although rare, it is important to be aware of the autoimmune group of blistering diseases, as if unrecognised and untreated, they can lead to significant morbidity and mortality. Early referral to a dermatologist is important as management of blistering skin conditions can be challenging.