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.

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.

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.

Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda.

Patients with chronic graft versus host disease may exhibit a range of sclerotic features. Herein we present a patient with confirmed porphyria cutanea tarda who subsequently developed chronic graft versus host disease.

[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.

Longitudinal study of a mouse model of familial porphyria cutanea tarda.

Most rodent models of porphyria cutanea tarda (PCT) share in common the administration of iron and agents that induce transcription of cytochrome P450s. Dissection of changes related to porphyrin accumulation required generation of a genetic model free from exogenous precipitants. Mice heterozygous for a null Urod mutation and homozygous for null Hfe alleles spontaneously develop major increases in hepatic and urinary porphyrins several months after weaning but the high % uroporphyrin signature of PCT is established earlier, before total hepatic and urinary porphyrins rise. Total porphyrin levels eventually plateau at higher levels in females than in males. Porphyrinogens were the dominant tetrapyrroles accumulating in hepatocytes. Hepatic Urod activity is markedly reduced but total hepatic heme content does not diminish. Microsomal heme, however, is reduced and in vitro metabolism of prototype substrates showed that some but not all cytochrome P450 activities are reduced. High hepatic levels of uroporphyrinogen are also associated with increased glutathione S-transferase activity and elevated mRNA of 2 transporters, Abcc1 and Abcc4. This murine model of familial PCT affords the opportunity to study changes in porphyrinogen and porphyrin accumulation and transport in the absence of exogenous factors that alter P450 activity and transmembrane transporters.

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.

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.

Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.

Cutaneous deposition disorders represent an array of conditions resulting from the accumulation of endogenous and exogenous substances within the skin. Many of the deposition diseases resemble each other and can also be confused with disorders not related to deposition. Porphyria cutanea tarda (PCT) results from dysfunction particularly in the fifth enzyme of the heme synthesis pathway, leading to increased skin fragility and bullae among other abnormalities. Ochronosis develops from alkaptonuria or exogenous sources, creating deposition of ocher-colored pigment in the skin. Hemochromatosis is a systemic disorder that can be inherited or acquired, altering skin pigmentation in more than 90% of patients. PCT can be an initial manifestation of hemochromatosis. Argyria is an acquired disorder of silver deposition that can also cause pigmentation similar to ochronosis. These uncommon but not rare disorders may resemble and be confused with each other in multiple ways.

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

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.

Sclerodermatous changes of face, neck and scalp associated with familial porphyria cutanea tarda.

Porphyria cutanea tarda (PCT), the most common of the porphyrias, is a mainly acquired disease of the liver, which manifests with bullous skin lesions. However, up to 20% of patients with PCT, usually those with chronic untreated disease, are reported to develop some sclerodermatous changes that may affect both light-exposed and nonexposed areas and that can be histologically indistinguishable from true scleroderma. A small number of patients with PCT has severe or generalized scleroderma, which is not necessarily due to coexistent systemic sclerosis. There are few reports in the literature that detail whether the severe sclerodermatous changes respond to control of the porphyria. We report a case of familial PCT with associated severe sclerodermatous changes causing scarring alopecia, cicatricial ectropion and skin thickening over the upper trunk. The scleroderma improved slightly over a 4-year follow-up period after treatment to normalize porphyrin excretion and prevent relapse.