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Biomedical subjects

L Kunkeler

Publications and source records attributed to L Kunkeler.

7 recordsLinked to original sources

Patch-test-induced subjective complaints.

BACKGROUND: Many patients report subjective complaints during epicutaneous patch testing. OBJECTIVE: To demonstrate the possible relationship between the occurrence of subjective complaints and patch testing. METHODS: All consecutive patients who were referred to our clinic for patch testing, during 1 year, were investigated to study a possible association of the patch test procedure and subjective complaints like tiredness, shakiness or feeling unwell. The patients were asked to fill in a form concerning subjective complaints on the days of the investigation. Only those without complaints on the day the patches were applied were included in the study (n=102). RESULTS: Of the 102 patients, 17 had complaints on both days 2 and 3, 14 only on day 2, 6 only on day 3 and 65 did not develop any complaints at all. The number of patients with complaints on both days 2 and 3 (n=17) was larger than was to be expected from chance (n=4.6; p<0.01). There was a significant correlation between the number of positive patch test reactions and the number of complaints on day 2 (r=0.19; p<<0.001) and on day 3 (r=0.15; p<0.001). Positive patch tests were found in 72.2% of the patients who reported the complaint of shakiness; this proportion is significantly higher than expected from chance (p<0.05). CONCLUSION: The results confirm those of our earlier study and demonstrate that patch testing can cause subjective complaints, especially when positive patch tests are present.

Adolescent↗

Type III and type IV hypersensitivity reactions due to mitomycin C.

A 71-year-old man developed an exfoliative dermatitis of the palms of the hands and soles of the feet, and a generalized itch, during treatment with intravesical instillations of mitomycin C for an undifferentiated carcinoma of the bladder. Patch tests with mitomycin C 0.03%, 0.1% and 0.3% aq. were positive. Because of the serious consequences of this finding, the patient was retested with mitomycin C in pet. (same concentrations), a more stable preparation. This showed clear positive reactions. During this last series of patch tests, he developed palpable purpura on the legs. We postulated that this reaction was an immune-complex-mediated reaction, caused by the 2nd series of patch tests with mitomycin C. To prove this, we performed histopathological and immunofluorescence investigations, and these showed the reaction to be consistent with Henoch-Schonlein-type purpura. We therefore conclude that this patient developed systemic reactions to mitomycin C, characterized by an eczematous dermatitis as well as purpuric reactions. The intravesical installations with mitomycin C have been stopped. The patient's skin problems (the purpura as well as the eczema) have completely resolved and have not recurred.

Administration, Intravesical↗

(Un)usual effects of patch testing?

BACKGROUND: Little information is available concerning subjective complaints associated with patch testing. OBJECTIVES: To gather information about the frequency and the nature of such complaints, and to evaluate, if possible, whether the complaints were really caused by patch testing. PATIENTS/METHODS: Four hundred and thirty-three patients took part in a questionnaire study between December 1996 and October 1997. Complaints of itch and other subjective complaints, such as tiredness and feeling unwell, were recorded. RESULTS: From the total group of 433 patients, 379 patients (87%) recorded one or more complaints on day 0. By day 2 this number was 383 patients (88%), with a significant reduction to 326 patients (75%) by days 3-4. Most complaints concerned itch on the back, and to a lesser extent tiredness. Fifty-four patients (54 of 433; 12%) did not report itch or other subjective complaints on day 0; of this group, 36 patients (66%) developed complaints by day 2. By days 3-4, 24 patients (44%) reported complaints: 20 patients from the day 2 group (37%) and four patients (7%) from days 3-4. Again the largest increase in complaints was found for itch on the back, but other complaints were also found to have increased, mainly tiredness, feeling unwell, headache, shakiness and light-headedness. CONCLUSIONS: We conclude that patch testing can, in addition to local skin reaction and itch, also cause other subjective complaints in a number of patients.

Adolescent↗

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Pachyonychia congenita (PC) is a group of autosomal dominant ectodermal dysplasias in which the main phenotypic characteristic is hypertrophic nail dystrophy. In the Jackson-Lawler form (PC-2), pachyonychia is accompanied by multiple pilosebaceous cysts, natal teeth, and hair abnormalities. By direct sequencing of genomic PCR products, we report heterozygous K17 missense mutations in the same conserved protein motif in a further five PC-2 families (K17 N92S in one familial and three sporadic cases; K17 Y98D in one familial case) confirming that mutations in this gene are a common cause of PC-2. We also show heterozygous missense mutations in K17 (N92H and R94H) in two families diagnosed as steatocystoma multiplex. Mild nail defects were observed in some but not all of these patients on clinical re-evaluation of these families. All the K17 mutations reported here were shown to co-segregate with the disease in the pedigrees analyzed and were excluded from 100 unaffected, unrelated chromosomes by restriction enzyme analysis of K17 genomic PCR products. We conclude that phenotypic variation is observed with K17 mutations, as is the case with other keratin disorders.

Cysts↗

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

Pachyonychia congenita (PC) is a group of hereditary syndromes which have in common a hypertrophic dystrophy of the distal nail, and are associated with a variety of additional features, notably various dyskeratoses of skin and mucous membranes. The pathology is unknown but the array of clinical features suggests the possibility of a keratin abnormality. In the present report we describe linkage analyses in a large PC pedigree of the Jackson-Lawler type, a subtype which is characterised by multiple epidermal cysts, hair abnormalities, and natal teeth. The disease locus in this family was found to be tightly linked to markers mapping within, or very close to, the keratin type I cluster at 17q12-q21; maximum lod scores for linkage of the disease to a KRT10 polymorphism and to D17S800, a marker known to be very tightly linked to KRT10, were respectively +4.51 and +7.73, both at theta = 0.00. Although always likely, our findings provide strong evidence of a keratin gene anomaly underlying an inherited disorder affecting epidermis, nail, hair, and mucosa. These findings permit testing to see if pachyonychia congenita shows any locus heterogeneity and suggest specific candidate keratin genes for mutation searching studies. In addition, they suggest a role for keratins in the phenomenon of natal dentition.

Chromosomes, Human, Pair 17↗

Long-term sequelae of treatment for testicular germ cell tumours.

Seventy-four patients previously treated in our department for germ cell tumour of the testis underwent a series of tests to determine the frequency of long-term therapeutic complications. All had received cisplatin-based chemotherapy as part of their treatment. There was a significant deterioration in renal function throughout the group. Eighteen (24%) had supine blood pressure greater than systolic 140 mmHg or diastolic 90 mmHg after treatment but hypertension did not correlate with renal impairment. Raynaud's phenomenon was common after chemotherapy (26/74) as was persistent sensory neuropathy (23/74). Although 34% had testosterone levels below the normal range, only six patients had a low free testosterone index with one testis still in situ; 18 patients have fathered children after chemotherapy. Approximately half of the patients completed a psychosexual questionnaire and some 30% of them admitted to sexual problems which they attributed to their treatment. Long-term sequelae of cisplatin-based chemotherapy for testicular malignancy are frequent and persistent, and follow-up of these patients should include prospective measurement of changes in blood pressure.

Adolescent↗