Abstract:
BACKGROUND:Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly present after birth. Later on follicular keratosis of the extremities and hyperkeratosis of palms and soles can be found. HISTORY AND CLINICAL FINDINGS:We report a child with pachyonychia congenita type-I (Jadassohn-Lewandowsky). Shortly after birth nail hypertrophy of all finger- and toenails and leukoplakia of the palate and tongue were found. At the age of 3 years follicular keratosis of the extremities and plantar bullae could be found additionally. CONCLUSION:The underlying disturbance is a mutation within genes for keratin 6, 16 and 17 which leads to formation of abnormal tonofilaments. In adult patients retinoids can be used for symptomatic treatment especially of the palmoplantar keratosis.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Wimmershoff MB,Stolz W,Schiffner R,Landthaler Mdoi
10.1055/s-2008-1043783keywords:
subject
Has Abstractpub_date
1999-05-01 00:00:00pages
179-83issue
3eissn
0300-8630issn
1439-3824journal_volume
211pub_type
杂志文章abstract:BACKGROUND:Intracellular antibodies (intrabodies) have been used for the generation of phenotypic knockouts in vivo by surface depletion of extracellular or transmembrane proteins. Intrabodies present an alternative to methods of gene inactivation that target genomic DNA or m-RNA, such as RNA interference. Several stud...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,收录出版
doi:10.1055/s-2006-933415
更新日期:2006-05-01 00:00:00
abstract::A two month old boy with Fournier's Gangrene of the scrotum as a result of unnecessary needle puncture of the hydrocele is being reported. The importance of appropriate diagnosis operation and drug-therapy is also described. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034104
更新日期:1984-11-01 00:00:00
abstract::630 neonates with risk factors of perinatal hearing impairment were screened of hearing loss by means of registration of transient otoacoustic emissions before discharge from the newborn nursery. Neonates were screened additionally by means of brainstem evoked response audiometry, if they had bilateral negative emissi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043853
更新日期:1998-03-01 00:00:00
abstract::Concentrations of free thyroxine (n = 341, male = 205, female = 136) and free triiodothyronine (n = 318, male = 198, female = 120) were determined using the radioimmunoassay method in blood serum of euthyroid children. Beyond the 30. day of life no significant differences were found in different age groups for the fre...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026821
更新日期:1987-09-01 00:00:00
abstract::Familial glucocortivoid insufficiency--also called hereditary lack of response of the adrenals to ACTH-has not yet been described in Europe. Isolated glucocorticoid insufficiency combined with intact secretion of aldosterone and high plasma level of ACTH are characteristic. The diagnostic difficulties are demonstrated...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-05-01 00:00:00
abstract:UNLABELLED:We present an unusual case of neonatal liver failure. Isolated ascites was diagnosed in a female fetus at week 34 gestational age upon routine ultrasound. In the 35th week of gestation a cesarean section was carried out after puncture of fetal ascites. After birth the patient showed symptoms and complication...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-970591
更新日期:2008-01-01 00:00:00
abstract::From 1975-1986 6 boys with congenital nephrogenic diabetes insipidus were diagnosed at the age of 3 months to 10 years. Symptoms appeared within the first few weeks of life. The diagnosis was confirmed by polyuria, low urinary osmolality (97-225 mosm/kg H20), hypernatraemia (max. 171 mmol/l) and the missing response t...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026741
更新日期:1989-11-01 00:00:00
abstract::A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-11-01 00:00:00
abstract::The phagocytic and NBT reduction indices of 94 preterm and underweight babies, divided into 7 groups and two weight classes, were observed over a period of six weeks while they were observed over a period of six weeks while they were given four commercial baby foods (Humana 0, Meb, Multival, Pomil). In all groups the ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-03-01 00:00:00
abstract:BACKGROUND:Children suffering from life limiting diseases are frequently cared for by adult palliative care teams due to missing paediatric structures in that field. However it is questionable whether palliative care curricula for physicians comprehensively cover issues of paediatric palliative care (PaedPC). AIM:To i...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0035-1569266
更新日期:2016-01-01 00:00:00
abstract::Transfusion-induced hemochromatosis remains a major therapeutic complication in the management of patients with chronic hemolytic anemias. Red cell units harvested with blood cell separators have an average estimated mean cell age of 30 days, compared to 60 days for unfractionated blood. Our initial experience with tr...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033936
更新日期:1985-03-01 00:00:00
abstract::During angiogenesis new blood vessels sprout from an existing vascular bed. This is a prerequisite for tumor growth beyond a certain size and for metastasis formation. Tumors produce a number of cytokines. The development of in vivo bio-assays for angiogenesis and in vitro analysis of endothelial cells permits charact...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1043960
更新日期:1997-07-01 00:00:00
abstract::16 patients of studies AML-BFM-83 and -87 with allogeneic bone marrow transplantation (BMT) in first complete remission (CR) were compared with matched controls with postremission chemotherapy (CT-MC). CT-MC were selected from 250 non-grafted patients with a minimum of remission duration corresponding to the median in...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2007-1025355
更新日期:1992-07-01 00:00:00
abstract::The long term follow up of 55 children with allergy treated by specific hyposensitization therapy is reported. Hyposensitization therapy had been terminated from 2--7 years previously. The success of treatment was subjectively judged to be satisfactory of good in 62% of the cases. In the group of asthmatic children, a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-11-01 00:00:00
abstract:BACKGROUND:After a first afebrile seizure, EEG in addition to cMRI is recommended for pediatric patients. Once indications requiring immediate treatment are excluded, it is of interest to determine if the results provide a prognostic tool for seizure relapses. METHODS:Patients aged between 1 month and 18 years who had...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1394421
更新日期:2015-03-01 00:00:00
abstract::Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological charac...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1249065
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVE:To investigate the change of psychological symptoms and quality of life in children and adolescents with congenital heart disease, cancer, or cystic fibrosis after a family-oriented inpatient rehabilitation program. METHODS:302 participants in the intervention (aged 4-17 years, mean=8.7) were assessed using ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1262831
更新日期:2011-03-01 00:00:00
abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2007-1025318
更新日期:1992-01-01 00:00:00
abstract::We identified betulinic acid (BetA) as a new cytotoxic agent active against neuroectodermal tumor cells including neuroblastoma, medulloblastoma, glioblastoma and Ewing's sarcoma cells representing the most common solid tumors of childhood. BetA induced apoptosis independent of wild-type p53 protein and accumulation o...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043808
更新日期:1999-07-01 00:00:00
abstract::A multi-center retrospective survey was conducted to evaluate the incidence and types of hemostatic complications occurring in children with acute lymphoblastic leukemia (ALL) during treatment according to the ALL-BFM-90 treatment protocol. All of the BFM-treatment centers (n = 77) were approached and a 95% response r...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,多中心研究
doi:10.1055/s-2008-1043788
更新日期:1999-07-01 00:00:00
abstract::48 patients between one and seventeen years of age were stimulated with GRF (1-29) NH2. Seventeen of them showed a constitutional delay in growth and puberty, twenty-three suffered from growth-hormone deficiency (GHD) and eight had a suspected GHD as a result of pharmacological tests. Although the results demonstrate ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025510
更新日期:1990-05-01 00:00:00
abstract::While leadpoisoning has been with mankind since the dawn of civilization, only in recent years this disease was recognized as a serious public health problem. It has been estimated that more than half a million children are suffering from lead intoxication in the U.S.A. In most instances this disease is caused by eati...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-09-01 00:00:00
abstract::Analysis of the cellular DNA content was carried out in 162 children with ALL and 34 children with AML admitted to the university children's hospital Münster between 1979 and 1984. DNA aneuploidies were identified at a similar frequency in ALL (40%) and AML (44%). However, the degree of DNA aneuploidies (DNA-index) wa...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1033972
更新日期:1985-05-01 00:00:00
abstract:BACKGROUND:Up to now, reliable data has not been available on the actual costs of treating oncological patients. However, such data material is urgently required in view of the institution of the health service reform with the concomitant introduction of the G-DRG remuneration system. PATIENTS:The medical services and...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2003-39379
更新日期:2003-05-01 00:00:00
abstract::This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemoph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-07-01 00:00:00
abstract:UNLABELLED:After corrective surgery for congenital heart defects (CHD) many patients suffer from residual defects, some with reduced cardiorespiratory capacity and possible impairment of their health related quality of life (HRQoL). The aim of our study is to evaluate, how children after surgery for CHD rate their HRQo...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1382019
更新日期:2014-09-01 00:00:00
abstract::The synchronous occurrence of blasts of the lymphatic and myelogenous lineage in acute leukemia has been rarely observed. Reviewing individual case reports it is suggested that malignant transformation already starts at the level of the stem cell. We are reporting a case of a 13-year old boy who initially showed morph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034453
更新日期:1981-05-01 00:00:00
abstract::15 parameters of coagulation and fibrinolysis were investigated in 38 children with type I diabetes mellitus without clinical signs of diabetic angiopathy. Compared to an age matched non diabetic control group spontaneous platelet aggregation was enhanced, plasma levels for factor VIII C, von Willebrand factor, antith...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025468
更新日期:1991-11-01 00:00:00
abstract::Doxorubicin serum levels were measured with a highly specific reversed-phase HPLC-method in patients undergoing combination chemotherapy. Serum elimination kinetics of doxorubicin follow a bi- or triphasic first order pattern with a high interpatient variability. T 1/2 of the first distribution phase was 5.4 min. T 1/...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1026889
更新日期:1986-05-01 00:00:00
abstract:HINTERGRUND: Die zeitliche Verzögerung zwischen Symptombeginn und Diagnose ist eine Herausforderung in der Behandlung von Kindern mit arteriell ischämischem Schlaganfall. Frühere Studien zur klinischen Präsentation beschäftigten sich v. a. mit kumulativen Symptomen. ZIELSETZUNG: Ziel dieser Studie ist es, mögliche Sym...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-0684-9794
更新日期:2018-10-01 00:00:00