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.

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.

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.

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The ulcero-mutilating neuropathy is defined by the triad of painless ulcers of the feet, sensitive polyneuropathy of the lower legs and osteolysis in the forefoot area. The condition mainly affects middle-aged men suffering from diabetes mellitus, liver diseases, alcoholism, obesity and constitutional foot deformities. Systemic venous infusions of appropriate antibiotics can hardly reach effective target tissue levels because of the damaged microcirculation. Thus we used retrograde venous perfusion (RVP) of several drugs into the injured leg during short time blockade of arterial blood supply and achieved better therapeutic effects. Applying the RVP route, a solution containing 200 mg netilmycin, 120 mg gentamycin, 50 mg buflomedil, 2500 IU heparin and 4 mg dexamethasone in 100 ml 0.9% saline was injected as bolus into a dorsal foot vein and the blood supply was blocked for 20 minutes. The RVP was carried out daily over a period of 7 to 10 days. We treated 7 patients suffering from a ulcero-mutilating neuropathy with the RVP. Over an observation period of up to four weeks, in one patient the plantar ulcers healed completely, while in the other six cases the RVP lead to a regression of inflammatory signs and a reduction of ulcer size of up to 50 per cent.