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N Sepp

Publications and source records attributed to N Sepp.

76 records · Page 5Linked to original sources
PubMedDate not supplied

Granulomatous slack skin: a distinct disorder or a variant of mycosis fungoides?

About 75% of cutaneous lymphomas belong to the group of T-cell lymphomas. Mycosis fungoides is the most common entity in this group. Granulomatous slack skin is a rare form of cutaneous T-cell lymphoma closely related to mycosis fungoides. We present here a patient with areas of lax skin for several years who developed a generalized erythroderma with associated immunoactivation and a deterioration in his general condition. This report discusses clinically and histologically the differential diagnoses, namely granulomatous slack skin and granulomatous mycosis fungoides, and suggests that these 2 disorders are only variants in the broad spectrum of a single disease.

Aged↗
PubMedDate not supplied

Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.

Variegate porphyria is a rare disease caused by a deficiency of protoporphyrinogen oxidase. In most cases, the clinical findings are a combination of systemic symptoms similar to those occurring in acute intermittent porphyria and cutaneous lesions indistinguishable from those of porphyria cutanea tarda. We report on a 24-year-old woman with variegate porphyria who, after intake of lynestrenol, developed typical cutaneous lesions but no viscero-neurological symptoms. The diagnosis was based on the characteristic urinary coproporphyrin and faecal protoporphyrin excretion patterns, and the specific peak of plasma fluorescence at 626 nm in spectrofluorometry. Biochemical analysis revealed that most of the family members, though free of clinical symptoms, excrete porphyrin metabolites in urine and stool similar to variegate porphyria, accompanied by a significant decrease of porphobilinogen deaminase activity of a range which is ordinarily found in patients with acute intermittent porphyria only (approximately 50%). These data first led to the assumption of two separate and independently inherited genetic defects, similar to the dual porphyria of Chester. Molecular analysis, however, revealed only a missense mutation of the protoporphyrinogen oxidase gene, but not of the porphobilinogen deaminase gene. Thus, in the family presented, porphobilinogen deaminase deficiency is likely to be a phenomenon secondary to the genetic defect of protoporphyrinogen oxidase.

Adult↗
PubMedDate not supplied

Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa.

We report here on three patients suffering from recessive dystrophic epidermolysis bullosa and one suffering from generalized atrophic benign epidermolysis bullosa, all of whom developed cutaneous squamous cell carcinoma. Our observations and a review of the literature suggest that squamous cell carcinoma in generalized atrophic benign epidermolysis bullosa is very infrequent and has a better outcome compared to skin cancer in recessive dystrophic epidermolysis bullosa. These differences could be explained by the distinct pathophysiology and clinical course of each of these variants of epidermolysis bullosa. In contrast to UV-induced skin cancer, the tumours in epidermolysis bullosa develop on distal extremities at sites of chronic wound healing. The cases reported here underline the exceptional importance of early histopathological assessment of suspicious skin lesions in patients with epidermolysis bullosa.

Adult↗