A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease.

BACKGROUND: Lysosomal storage disorders may impair intracellular lysosomal processing of antigen with consequences for antibody production [e.g. immunoglobulin E (IgE)] and atopic disease status. AIMS: Serum concentration of total IgE as well as clinical symptoms of atopic disorders as an indirect consequence of lysosomal impairment of antigen processing were studied in male and female Fabry disease (FD) patients with and without replacement of the missing lysosomal enzyme, alpha-galactosidase A (alpha-Gal A). METHODS: Observational study in 31 adult FD patients with measurements of total serum IgE concentration. Questionnaire-derived data were obtained for atopic eczema (AE) skin lesions, allergic rhinoconjunctivitis (RCA) and allergic asthma (AA) at present or in the past. RESULTS: Among 12 FD males under enzyme replacement therapy (ERT), 2 showed total IgE concentrations above 100 kU/L. Clinical symptoms for AA were found in 2, RCA and AE in 1, respectively. Among 10 FD females under ERT, 4 showed total IgE concentrations above 100 kU/L. Clinical symptoms for AA were found in 4, RCA in 2 and AE in 2. Among 9 females without ERT, 2 showed total IgE concentrations above 100 kU/L. Clinical symptoms for AA were found in 2, RCA in 2 and AE in none. CONCLUSIONS: FD patients may demonstrate an increased total serum IgE concentration and may show symptoms of atopic disorders (AA, RCA, AE) in a prevalence rate comparable to international experience for individuals without FD. There was no difference between patients with and without ERT. Lack of detection of AE in females without ERT is suggested to be caused by the small sample size. FD patients without any alpha-Gal A activity prior to initiation of ERT should be in the focus of future studies.

Control of atopic eczema with pimecrolimus cream 1% under daily practice conditions: results of a > 2000 patient study.

BACKGROUND: Pimecrolimus cream 1% has been shown to effectively control atopic eczema (AE) when applied twice daily from the first signs or symptoms of AE until clearance. Moreover, pimecrolimus cream 1% has a favourable safety profile, lacking topical corticosteroid-related side-effects such as skin atrophy, making it particularly useful to treat delicate body regions (e.g. the face). OBJECTIVE: The objective of this naturalistic study was to monitor the safety, tolerability and efficacy of pimecrolimus when used in the long-term management of AE in a real-life setting. METHODS: A multicentre, open-label study was conducted in 2034 patients aged >or= 3 months with mild to moderate AE for up to 12 months' duration. Patients applied pimecrolimus cream twice daily, initiating treatment at first signs or symptoms of AE, continuing until clearance. RESULTS: Patients (n= 1847; 91%) completed 3 months of the study. Treatment success (clear or almost clear AE) after 3 months of treatment was observed on the whole body in 59% of patients and on the face in 81% of patients. Disease improvement of whole body and face was seen in 77% and 63% of patients, respectively. Pruritus was absent or mild in 79% of patients. Pimecrolimus cream was well tolerated throughout the study. CONCLUSION: In a daily practice setting, pimecrolimus cream 1% effectively and safely controls AE.

Allergic sensitization and disease in mother-child pairs from Germany: role of early childhood environment.

BACKGROUND: Early childhood influences are important for the development of the allergic phenotype. In East Germany, tremendous lifestyle changes took place after 1990 and it can be hypothesized that the allergic phenotypes in mothers and their children are less similar than in West Germany. This was investigated in our study done in mothers and their 6-year-old children from East and West Germany in the year 2000. METHODS: 1,393 mother-child pairs participated. A subgroup of 774 pairs gave blood for the determination of specific IgE. Regional differences in mother-child correlations and in prevalence of mother-child combinations with respect to allergic sensitization and disease were examined by logistic regression analysis. RESULTS: The adjusted association in positive allergic sensitization between mothers and their children was not significant in East Germany (OR 1.23, 95% CI: 0.68-2.24) but highly significant in West Germany (OR 2.89, 95% CI: 1.73-4.80). The probability for the combination of 'negative' mother and 'positive' child was significantly higher in East than in West Germany. CONCLUSIONS: Mother-child transmission of atopy predisposition can even be cancelled by environmental changes.

[Tattoos and permanent make-up: background and complications]. / Das sollten lhre Patienten vor der Tätowierung wissen. Cave: Tabus bei Tattoos.

Tattoos and permanent make-up have enjoyed great popularity during recent years. However, a careful consideration of the risks is made only rarely before each procedure. Above all the undefined pigment compositions create unforeseeable health and appearance problems. The family physician should be familiar with the techniques, materials, as well as the possible risks of tattoos and permanent make-up when advising patients. Medical complications include, among other things, infections, allergies, keloid and granuloma formation.

[Diabetes mellitus: Cutaneous and mucosal marker lesions]. / Markerläsionen an Haut und Schleimhaut. Was die Haut lhrer Diabetiker verrät.

Diabetes mellitus may be associated with dermatological lesions affecting the skin and mucous membranes. In some cases they may even provide the physician with a first indication that the patient may be suffering from diabetes. Typical examples include necrobiosis lipoidica, granuloma annulare, acanthosis nigricans and vitiligo.

[Inflammatory bowel diseases--associated lesions affecting the skin and mucous membranes]. / Erytheme, Ulzera, Fibrome und Aphthen. Morbus Crohn und Colitis ulcerosa hinterlassen sichtbare Spuren.

Crohn's disease or ulcerative colitis may be preceded, followed or accompanied by a variety of extra-intestinal diseases affecting the skin and mucous membranes. Amongthe most important of these associated lesions are, for example, erythema nodosum and pyoderma gangrenosum.

[Acquired effluvium of head hair: common conditions in women]. / Unter hundert pro Tag ist normal: Wenn Frauen Haare lassen.

Acquired disorders of hair growth in women may present clinically either as effluvium or alopecia. The relevant pathologies include androgenetic alopecia, postpartum effluvium, tinea capitis, trichotillomania and alopecia areata.

Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: report of a case.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited disorder with characteristic oculofacial affection of the eyelid region. Recent results of genetic analysis of the causative gene, as well as a hitherto unknown association with hormone-dependent endometrial carcinoma, motivated us to review this syndrome.

Congenital lower lip pits--a very rare syndrome? Report of two cases and review of the literature.

A 43-year-old white man and his 12-year-old daughter both displayed congenital lower lip pits. Since Van der Woude's description of this syndrome more than forty years ago, little attention has been given to this uncommon anomaly, probably due to variable expressivity, incomplete penetrance, and recognition of its clinical stigmata. We describe two family members with Van der Woude's syndrome and review its clinical aspects, differential diagnosis, and treatment.

Onychogryphosis in elderly persons: an indicator of long-standing poor nursing care? Report of one case and review of the literature.

A 92-year-old immobilized white woman under the daily nursing care of a private ambulatory nursing service displayed acquired deformities of the toenails resembling a ram's horn. In light of a rapidly growing elderly population, this case report illustrates the need for close monitoring of the quality of care that nursing services provide to older persons. In addition, it reviews the clinical aspects of onychogryphosis, as well as its pathomechanisms and treatment options.

[Alarming skin manifestations: eczema, urticaria or cancer? How to discriminate between benign and dangerous skin changes]. / Hautalarm: Ekzem, Urtikaria oder Krebs? Wie Sie harmlose und gefährliche Hautveränderungen unterscheiden.

Numerous dermatological lesions can be provisionally diagnosed by the family doctor on the basis of such parameters as location, duration, degree of pruritus, involvement of the epidermis, and the age of the patient. Whenever a lesion is difficult to interpret or suspicious for malignancy, the patient should be referred to a specialist without delay. This is also mandatory in all such cases in which accepted therapeutic measures initiated on the basis of an apparently certain diagnosis on the part of the family doctor fail to cure the problem within a reasonable period of time.

[Diagnosis of major sexually transmitted infections in the doctor's office: viral diseases]. / Diagnostik sexuell übertragener Krankheiten: Virusinfektionen. Herpes-, Papilloma- und HI-Viren hinterlassen Spuren

Sexually transmitted infections caused by viruses include infections by the Herpes simplex virus (HSV), the human papillomavirus (HPV), and the human immunodeficiency virus (HIV). The diagnosis is established on the basis of clinical presentation and the direct demonstration of the antigen or antibodies.

[Diagnosis of major sexually transmitted infections in the doctor's office: bacterial infections]. / Diagnostik sexuell übertragener Krankheiten: Bakterielle Infektionen. Kennen Sie die "Kieler Masern"?

Bacterial infections that can be transmitted by sexual contact are usually caused by the following organisms: Neisseria gonorrhoeae, Chlamydia trachomatis, Treponema pallidum and Klebsiella granulomatis. These pathogens can be detected with the aid of specific nutrient media, stained microscopic sections and serological and molecular biological methods.

[Diagnosis of major sexually transmitted infections in the doctor's office: ectoparasites and yeasts]. / Diagnostik sexuell übertragener Krankheiten: Ektoparasiten und Pilze. Laus und Milbe finden den Weg zum nächsten Wirt auch ohne Sex.

Ectoparasites, such as lice and itch mites (scabies) as well as yeasts, may be transmitted not only by sexual contact, but also by less intimate skin contact. The nits of the louse are visible to the naked eye, while Candida albicans is detected under the microscope or by culture.