Trichophyton rubrum-induced inflammatory tinea capitis in a 63-year-old man.

Tinea capitis caused by Trichophyton rubrum is a rare event worldwide. We report on an elderly otherwise healthy man with inflammatory fungal disease of the scalp caused by this pathogen. He had no signs of concomitant mycosis of the skin and nails and no underlying immunosuppressive disease. The fungal infection primarily had been misdiagnosed in terms of a pyoderma. Failure of antibiotic treatment, a positive mycological study and molecular diagnostics eventually led to the correct diagnosis. After systemic and local administration of terbinafine the lesion improved totally.

[Acquired epidermolysis bullosa with a highly varied clinical picture and successful treatment with mycophenolate mofetil]. / Epidermolysis bullosa acquisita mit facettenreichem klinischen Bild und erfolgreicher Mycophenolatmofetiltherapie.

A 60-year-old woman with epidermolysis bullosa acquisita (EBA) presented with a highly variable clinical picture. First she developed oral erosions and ulcers covered with shaggy epithelial rests. Later she developed pustular and target lesions as well as tense cutaneous blisters. Clinically the alterations were strongly suggestive of aphthae or a pustular dermatosis. Histological and immunological examinations revealed subepidermal blister formation, neutrophilic infiltration, linear deposition of IgG and C3 at the basement membrane in the direct immunofluorescence and the evidence of circulating IgG-antibodies against basement membrane (monkey esophagus) in the indirect immunofluorescence. Thus our working diagnosis was a pustular or nodular form of bullous pemphigoid, as a linear IgA dermatosis was excluded. Indirect immunofluorescence using NaCl-separated primate skin localized the basement membrane antibodies in the base of the artificial blister, while immunoblotting of dermal extracts disclosed binding of serum antibodies to a 290-kDa protein. Bullous systemic lupus erythematosus was excluded, leading to the definitive diagnosis of EBA. The clinical variability of this disease is well known; the polymorphic picture in our patient with erosions, pustules, target lesions and blisters is unique in the literature. The similarity in histology and immunofluorescence of the clinically quite different lesions is another unexpected event. Also the speedy response to therapy with the immunosuppressive agent mycophenolate mofetil has only been described once before. The patient remains in remission after 6 months. Because of the poor response to therapy in most cases, the significant skin lesions are a source of physical as well as emotional distress. Additional complications include stenosis of trachea or bronchi injure.

[Coincidence of scleroderma and primary biliary cirrhosis. Results of a systematic study of a dermatologic patient sample]. / Koinzidenz von Sklerodermie und primär biliärer Zirrhose. Ergebnisse einer systematischen Studie im dermatologischen Krankengut.

We present for the first time in the German dermatologic literature results of systematic investigations on the relationship between scleroderma, antimitochondrial autoantibodies and primary biliary cirrhosis (PBC). 40 patients with different clinical pictures of systemic and localized scleroderma were examined. By means of indirect immunofluorescence technique, in the sera of 5 cases (12.5%) antimitochondrial autoantibodies (AMA) could be detected. The target autoantigens for the AMA were identified as pyruvate dehydrogenase, branched-chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, protein x and pyruvate dehydrogenase E-1 alpha in all 5 cases, PBC was confirmed by means a liver biopsy and endoscopic retrograde cholangioscopy. Considering the occurrence in the normal population, the prevalence of the PBC in our scleroderma collective was 8.3 x 10(2) to 2.5 x 10(3) x higher. In respect to the clinical picture of the scleroderma, we found a M2-antibody-positive PBC in 2 woman with CREST syndrome and in 1 woman with a acral-type of the progressive systemic scleroderma. CREST syndrome and coexistently M2-antibodies in the serum are a risk constellation for the development of PBC. In 2 female patients older than 50 years we observed the coincidence of disseminated plaque-like localized scleroderma and a M2-antibody-positive PBC. In our opinion this latter constellation is a specific entity. The administration of ursodeoxycholic acid (daily 15 mg/kg BW) in 3 cases led not only to dramatic improvement of the clinical symptoms of PBC as expected, but also to pronounced improvement of skin lesions of 2 patients with disseminated circumscribed and 1 patient with progressive systemic sclerosis. Thus PBC should be searched for in patients with scleroderma, especially those with CREST syndrome or widespread localized disease; it may have practical therapeutic value as well as immunological significance.

[Hereditary angioedema in the German-speaking region]. / Untersuchungen zum hereditären Angioödem im deutschsprachigen Raum.

A multicentre, retrospective study of hereditary deficiency of C1-esterase inhibitor (C1-INH) function, a deficiency which clinically manifests as hereditary angioedema (HAE), was performed in six centres in Germany, Austria and Switzerland. 242 individuals were registered with proven functional or quantitative deficiency of C1-INH who belonged to kindered with disease manifestation in 2 to 6 generations. Considering the total population in the three countries and the number of registered individuals, a frequency of the deficiency of 0.02 x 10(-4) was calculated. As this epidemiological study involved only 6 centres, a 10 to 100 times higher frequency of C1-INH deficiency is estimated to be a more realistic value. Out of the 242 registered individuals 110 were evaluated for type and location of clinical manifestation of the deficiency, the laboratory data and the therapy outcome. 86 (78.2%) of the patients belonged to the "common type" and 24 (21.8%) to the "variant type" of HAE. In 53.9% of the cases first manifestation of the disease was before the age of 20 years. In only 3.9% of the patient population did the disease begin after 40 years of age. A mean time lag of 5,3 years was observed, between the first manifestation and correct diagnosis. Initial diagnosis was correct in only 31.8% of the cases of which dermatologists provided 51.7%. False diagnoses include urticaria (41.3%), allergy (20%), acute abdomen (18.7%), angina (8%), rheumatoid disease (5.3%) and intracranial haemorrhage, CNS tumour, epilepsy, migraine (5.3%). The distribution pattern of HAE resembled that of intolerance reactions and pseudoallergies. Urticarial lesions were not associated with C1-INH deficiency. 24% of the patients had at least one episode of laryngeal edema. 40% of patients were unable to identify a trigger of edema formation. The others indicated as triggers trauma, hormonal changes, mental stress, insect stings and in a few cases food and drugs. Menstruation and oral contraceptives aggravated or made disease manifestations more frequent. In contrast, during pregnancy in many cases clinical manifestations improved and delivery posed no problems. The possibility of HAO is very much suggested by the tailure of edema to respond to classical anti-allergic therapy. Therapy of choice of acute attacks is C1-INH concentrate. No side reactions, antibody formation or virus transmission have been observed. For long term prophylaxis danazol, an attenuated androgen, or tranexamic acid, a protease inhibitor, was chosen. The daily dose of danazol should be kept as low as possible because of its anabolic, anti-estrogenic, anti-gestagenic, and anti-gonadotropic effects. Indeed, adverse reactions were observed in 41.7% of patients receiving danazol. Frequencies of adverse reactions were twice as common in women as in men. Adverse reactions were dose dependent and reversible except for one woman with irreversible deepening of her voice. Measuring C1r is a effective way to assess C1-INH function and monitor therapy.

[Psoriasiform onychopachydermoperiostitis of the large toes: the OP3GO syndrome]. / Psoriasiforme Onychopachydermoperiostitis der Grosszehen: Das OP3GO-Syndrom.

A 46-years old male patient suffered for several years from painful swelling of the distal soft tissues of the great toes associated with onychodystrophy. Mycological studies were negative. By means of radiological and scintigrafic examination and because of the typical clinical signs, the diagnosis of psoriatic onycho-pachydermo-periostitis of the great toes was established. The syndrome which is highly evocative of rheumatoid psoriasis was first described by Fournié and co-workers in 1989. Oral retinoids were helpful in diminishing both pain and soft tissue swelling of the great toes.

[Severe type III hyperlipoproteinemia with unusual lipoprotein phenotype in an adolescent patient]. / Schwere Typ-III-Hyperlipoproteinäimie mit ungewöhnlichem Lipoproteinphänotyp bei einer jugendlichen Patientin.

We report on a 17-year-old female patient with hyperlipidaemia, apoE2 homozygosity and characteristic dermatological features of type-III hyperlipoproteinaemia (HLP III). In contrast to the "classical" lipoprotein phenotype, with hypercholesterolaemia and hypertriglyceridaemia, in our case an elevated LDL cholesterol level was also present. To the best of our knowledge, this is the eleventh report in the literature of HLP III onset in a child or an adolescent. Treatment with several antilipidaemic drugs resulted only in a reduction of the serum triglyceride concentration, and not in an improvement of the hypercholesterolaemia or the elevated LDL cholesterol level. This therapeutic response was explained with reference to an uncommon association of the apoE2 homozygosity with the homo- or heterozygote state of familial hypercholesterolaemia. Another explanation for this phenomenon is the possible combination of the apoE2 homozygosity with a familial apolipoprotein-B 100 defect that has only recently come to light.

[Clinical studies of the possible antimycotic effects of the Helix pomatia lectin anti-AHP]. / Klinische Untersuchungen zur Frage möglicher antimykotischer Effekte des Helix pomatia-Lektins Anti-AHP.

In a pilot study the antimycetic effect of the lectin anti-AHP in 40 patients suffering from different mycoses was studied. The treatment with an aqueous solution of anti-AHP resulted in a complete healing in 15 of 40 cases and in 16 patients in a remarkable improvement, whereas in 9 cases such an effect has not been observed. The mode of operations remains still unknown, possible actions of anti-AHP on fungi and stratum corneum are discussed.

[Disseminated granuloma anulare--regression with PUVA therapy]. / Disseminiertes Granuloma anulare--Rückbildung unter PUVA-Therapie.

We report on a 48-year-old female patient suffering from disseminated granuloma anulare. Treatment with PUVA resulted in complete remission. The possible actions of PUVA on granuloma anulare are discussed in detail.

[Immunopathogenetic, endocrinologic and therapeutic problems of EMO syndrome. Observations based on a case report]. / Immunpathogenetische, endokrinologische und therapeutische Probleme des EMO-syndroms. Betrachtungen anhand einer Krankenbeobachtung.

The EMO-syndrome (thyroid acropachy) consists of the triad of exophthalmus, circumscribed pretibial myxedema and hypertrophic osteoarthropathy. The clinical picture is seen in thyroid disorders, as a rule occurring in hyperthyroidism, rarely in hypothyroid or euthyroid states. Our 47 year old female patient showed a hyperthyroidism in the beginning. The thyrostatic treatment resulted in a euthyroid stage. Serum antibodies against microsomal thyroid gland antigen with high titers were detected. The immunosuppressive treatment resulted in a titer reduction, but not in an improvement of the disease. The pathogenetical importance of the thyroid stimulating immunoglobulins and the role of aggressive and destructive antibodies against thyroid gland for the development of EMO-syndrome are discussed.

[Fatal course of basalioma terebrans caused by brain abscess with brain compression and hemorrhagic anemia]. / Tödlicher Verlauf eines Basalioma terebrans durch Hirnabzess mit Hirnkompression und Blutungsanämie.

Report on a 79 years old female patient with a giant basalioma terebrans which has been growing for 15 years at the forehead. Its rapid exophytic and invasive growth at the final stage resulted in an extend destruction of the squamofrontal bone with infiltration into the dura mater. In consequence of this brain abscess with brain compression and a high grade hemorrhagic anemia inducing at last the fatal outcome were developed.

Genetic analysis of enhancer of split, a locus involved in neurogenesis in Drosophila melanogaster.

Enhancer of split (E(spl)), one of the neurogenic loci of Drosophila, is uncovered by the deletion Df(3R)E(spl)(R-B251) with breakpoints at 96F8 and 96F13. We describe here the results of a genetic analysis of this chromosomal interval. Thirty-one mutations in genes of this region were recovered during various programs of mutagenesis. In addition, we included the spontaneous mutations E(spl)(D) and groucho (gro), which are known to map to this region, in our study. These 33 mutations define four lethal complementation groups, one of which includes E(spl)(D) and gro. Mutations of the E(spl) group behave as complementing and noncomplementing pseudoalleles, defining different functions. Alleles are classified according to their complementation behavior in two different ways: with respect to their viability as heterozygotes with other lethal alleles and with respect to gro and to E(spl)(D). The phenotypes of these mutations and the pattern of heteroallelic complementation speak in favor of a considerable genetic complexity of the E(spl) locus.

The enhancer of split locus and neurogenesis in Drosophila melanogaster.

Enhancer of split (E(spl)) is one of a group of so-called neurogenic genes of Drosophila. We describe two different types of E(spl) alleles, dominant and recessive, which exert opposite effects on both central and peripheral nervous system development. The only extant dominant allele determines a reduction in the number of central neurons and peripheral sensilla; this phenotype is not reduced by a normal complement of wild-type alleles. Since animals carrying a triploidy for the wild-type locus develop similar defects, the dominant allele is probably the result of a gain-of-function mutation. Several recessive alleles, obtained as revertants of the dominant allele, are loss-of-function mutations and determine considerable neural hyperplasia. The present evidence suggests that neural defects of E(spl) mutants are due to defective segregation of neural and epidermal lineages, leading to neural commitment of less or of more cells than in the wild type, depending upon whether the animals carry the dominant or any of the recessive alleles, respectively. Therefore, E(spl) formally behaves as a gene switching between neural and epidermal pathways.