ABSTRACT
Classical variants of specific cutaneous LE lesions are chronic discoid LE (CDLE) and subacute cutaneous LE (SCLE). CDLE and SCLE may appear at any age; however, the most common age of onset is between 20 and 40 years, with a female predominance of 3:1 in CDLE and 3-6:1 in SCLE. Nonspecific LE skin lesions such as generalized or acrolocalized vasculitis (4-30%), livedo reticularis (22-35%), and alopecia (38-78%) are frequently seen in patients with cutaneous LE. Other typical cutaneous LE subsets such as LE profundus/panniculitis, LE tumidus, urticaria vasculitis, hypertrophic LE, and bullous LE are rather rare variants. Butterfly rash and/or macular exanthema are characteristic skin lesions of systemic lupus erythematosus (SLE) rarely found in patients with cutaneous LE.
Subject(s)
Lupus Erythematosus, Cutaneous/diagnosis , Disease Progression , Humans , Lupus Erythematosus, Cutaneous/pathology , Prognosis , Severity of Illness IndexSubject(s)
Anticonvulsants/adverse effects , Bipolar Disorder/drug therapy , Drug Eruptions/etiology , Drug Hypersensitivity/etiology , Psychotic Disorders/drug therapy , Valproic Acid/adverse effects , Anticonvulsants/therapeutic use , Drug Eruptions/diagnosis , Drug Hypersensitivity/diagnosis , Drug Therapy, Combination , Humans , Male , Middle Aged , Patch Tests , Risk Factors , Valproic Acid/therapeutic useABSTRACT
Aquagenic urticaria is a rare disorder characterized by the occurrence of pruritus and wheals after temporary contact with water. The familial occurrence of aquagenic urticaria over 3 generations is reported here in association with familial lactose intolerance, a condition in which the enzyme lactase encoded on chromosome 2, is deficient. In two patients, a young man and his mother, we verified the appearance of pruritic hives 5 to 10 minutes after contact with water of any temperature. Other types of physical urticaria were absent, and mastocytosis was excluded by extensive laboratory investigations; lactose intolerance was confirmed in both patients by H(2)-exhalation test. In these patients the clinical symptoms did not respond to antihistamines or UV-radiation therapy. Four other members of the family had wheals from water contact, two of whom had lactose intolerance. Two other members had lactose intolerance only. Although the association of aquagenic urticaria with lactose intolerance may be coincidental, attention is drawn to the fact that the 2 conditions, known to be familial, may coexist in the same family, possibly based on an association of gene loci.
Subject(s)
Lactose Intolerance/complications , Urticaria/complications , Water , Adult , Humans , Lactose Intolerance/genetics , Male , Pedigree , Urticaria/etiology , Urticaria/geneticsABSTRACT
The proapoptotic potential of tumor necrosis factor-alpha (TNF-alpha) has been demonstrated for various cell types, whereas nuclear factor-kappaB (NF-kappaB) is known to support the transcription of prosurvival genes. In the present study, investigation of normal human melanocytes revealed induction of apoptosis after TNF-alpha treatment (100 U/ml) in only 3 out of 11 cultures analyzed, whereas 8 cultures remained largely resistant. In sensitive cultures, NF-kappaB binding activity was found increased after TNF-alpha treatment; apoptosis-resistant cells were characterized by relatively high basic NF-kappaB binding activities and did not show NF-kappaB activation after TNF-alpha treatment. Inhibition of NF-kappaB by a specific inhibitor, Bay-11, either induced apoptosis itself or resistant melanocyte cultures became sensitive to TNF-alpha treatment. No correlation was found between apoptosis sensitivity and the expression of TNF receptor-1 or the expression of Bax, Bcl-2 and Bcl-X(L). A strong correlation, however, was found regarding the pigmentation degree, as high pigmentation correlated with apoptosis resistance and sensitive melanocyte cultures were weakly pigmented. These data may indicate that in cultured melanocytes, high levels of melanogenesis lead to an increase in oxidative stress which itself causes NF-kappaB activation. NF-kappaB mediates the transcription of antiapoptotic factors which may block TNF-alpha-induced apoptosis at early steps of the signal cascade.
Subject(s)
Apoptosis/drug effects , Melanocytes/drug effects , NF-kappa B/physiology , Tumor Necrosis Factor-alpha/pharmacology , Animals , Apoptosis/physiology , Cattle , Cell Division/drug effects , Cell Division/physiology , Cells, Cultured , Humans , Male , Melanocytes/cytology , Melanocytes/metabolism , NF-kappa B/antagonists & inhibitors , Signal Transduction/drug effects , Signal Transduction/physiology , Skin Pigmentation/drug effects , Skin Pigmentation/physiologyABSTRACT
Schnitzler's syndrome (SS) is characterized by the association of generalized chronic urticaria, osteocondensation and monoclonal IgM gammopathy. Nonsteroidal anti-inflammatory drugs and systemic steroids are the most promising treatments. In our patient, they were ineffective. By contrast, during the follow-up period of 18 months, interferon alpha(2b) therapy (IFN-alpha) relieved the patient from its urticarial lesions and bone pain. IFN-alpha was tried to be stopped twice: each time, relapse of urticaria was noticed and, each time, the cutaneous lesions disappeared after IFN-alpha had been reintroduced. Furthermore, our observation supports the idea of the interleukin (IL)-1-mediated pathogenesis of SS as IFN-alpha induces high levels of IL-1 receptor antagonists. IFN-alpha could be an alternative treatment in disabling SS resisting other drugs.
