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PubMed2006

[Laboratory tests and therapeutic strategies for the porphyrias].

The porphyrias are a heterogeneous group of predominantly hereditary metabolic diseases resulting from a dysfunction of heme biosynthesis. Most of the porphyrias can manifest with a broad range of cutaneous symptoms on the sun-exposed areas of the body, whereas other variants reveal life-threatening acute neurological attacks. Further, mixed types of porphyrias exist. Besides the skin, other organs can be affected, such as the liver and the central nervous system. Therefore, interdisciplinary supervision of these patients is mandatory. In this review we will first present the clinical picture and diagnosis of the porphyrias, including the specific biochemical laboratory tests and a diagnostic algorithm. Thereafter, the current therapeutic concepts will be briefly addressed. Finally, we introduce the European Porphyria Initiative (EPI), an association of various European porphyria centers that is aiming at gathering the broad experience of internationally renowned porphyria experts for the development of European consensus guidelines for diagnosis and treatment of these metabolic disorders.

Algorithms↗
PubMed1986

Current aspects of polymorphous light eruptions in Sweden.

The prevalence of polymorphous light eruptions (PMLE) in a Swedish pharmaceutical company employing 412 individuals was estimated by the use of a detailed questionnaire, and 397 (96.4%) answered the survey. Their ages ranged from 18 to 65 yr (mean 40.2), and 66% were females. Eighty-three individuals (21%), mainly women (89%), had symptoms consistent with the diagnosis PMLE. Duration of their disease ranged from 1 to 53 yr, mean 14 yr. A positive family history of PMLE was surprisingly common (46%). Their threshold for sun tolerance was fairly high. They required rather high doses of sunlight to trigger their eruptions, 42% from 30 min to 2 h, and 45% greater than 2 h of solar irradiation. Only 3% had consulted a physician for their PMLE. A hardening phenomenon occurred in 84%. The PMLE group included habitual sunbathers (70%). A fair complexion was common in the PMLE group, 40% having skin types I and II, but as many as 59% had skin type III. Individuals with no light sensitivity had skin type I and II in 22%, and had skin type III in 69% of cases. In conclusion, PMLE is a common disorder and milder forms seem to be more prevalent than earlier described in northern countries such as Sweden.

Adolescent↗
PubMedDate not supplied

The less common occupational dermatoses.

Contact dermatitis and nonmelanoma skin cancer are the most common occupational skin disorders in North America, but there are many other occupational dermatoses that illustrate the wide range of pathological and adaptive responses of the skin to workplace exposure. Discussed are acne, chemically induced leukoderma, nail diseases, contact-related burns, high-pressure injection injuries, contact urticaria, heat reactions and photosensitivity, and infections.

Burns, Chemical↗
PubMed1986

Lupus erythematosus.

Lupus erythematosus represents a wide spectrum of diseases. Within this heterogeneity, however, several clinically relevant subsets have been found that may unite differing aspects of the disease and that may have pathogenic implications for the problem as a whole. Exciting links between genetic phenotypes, certain immune responses, and related cutaneous findings in neonatal, complement-deficient, subacute cutaneous, and ANA-negative lupus erythematosus and Sjögren's syndrome have been found. The increased frequency of the anti-Ro(SSA) antibody in these groups is notable. The ultraviolet light-altered immune system found in vivo and in vitro may also be relevant to disease pathogenesis. Even if the mechanisms elaborated are not the precise aberrations in lupus erythematosus, they may serve as an operational model for further research. Continued investigations into mechanisms of photoexacerbations in lupus erythematosus, as well as into genetically mediated immune response, may further our understanding of these disorders.

Adolescent↗