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W Küster

Publications and source records attributed to W Küster.

At least 55 records · Page 3Linked to original sources
PubMed1995

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

Palmoplantar keratoderma is a frequent hereditary disorder of keratinization in humans. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. Recently, mutations in the keratin genes have been identified in palmoplantar keratoderma: mutations in the keratin 9 gene causing the epidermolytic form, and mutations in the keratin 1 gene in a non-epidermolytic form. We have now investigated a family with the striated form of palmoplantar keratoderma (type Brünauer-Fuhs-Siemens) for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q. After excluding both type I and type II keratin genes we have mapped a locus for this form of palmoplantar keratoderma to chromosome 18q12 with a maximum two-point lod score of 3.3 at theta = 0.00 at D18S536. A cluster of desmosomal cadherin genes has been mapped to this region making them good candidates for this form of PPK. These findings indicate that hyperkeratosis of palms and soles is clinically as well as genetically heterogeneous.

Base Sequence↗
PubMed1995

The CHILD nevus: a distinct skin disorder.

BACKGROUND: The CHILD syndrome is characterized by an ichthyosiform and inflammatory nevus showing a strikingly unilateral arrangement. No particular name has so far been given to this nevus, which is why this skin disorder has been described under various inappropriate terms such as epidermal nevus, inflammatory linear verrucous epidermal nevus (ILVEN), unilateral ichthyosiform erythroderma, unilateral ichthyosis or verruciform xanthoma. OBJECTIVE: In order to avoid such confusion and to make it easier for clinicians to recognize this skin disease, a new name should be given to this disorder, and the diagnostic criteria should be delineated. METHOD: The term CHILD nevus is proposed and the distinctive clinical, histopathological and ultrastructural features of this disorder are described. RESULTS: A comprehensive clinical and genetic comparison shows that the CHILD nevus can be distinguished from all other types of epidermal nevi by characteristic features such as ptychotropism, waxy yellowish scaling, a unique lateralization pattern showing both diffuse and linear involvement and the presence of foamy histiocytes in the papillae ('verruciform xanthoma'). Contrasting with all other epithelial nevi, the CHILD nevus is an inherited X-linked dominant, male-lethal trait. CONCLUSION: This nevus represents a separate cutaneous entity. Future clinical research will probably show that the underlying gene defect often manifests itself as an isolated skin disorder. Such cases should no longer be confused with ILVEN. Recognition of this particular skin disorder is important for genetic counseling because a woman showing an isolated CHILD nevus has an increased risk of giving birth to a daughter suffering from a complex congenital disorder, the CHILD syndrome.

Diagnosis, Differential↗
PubMed1994

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.

Amino Acid Sequence↗
PubMed1994

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.

Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by defects in the suprabasal keratins. Recently, mutations in the keratins 1 and 10 have been identified in patients with this disease. In this study, direct gene sequencing was used to establish the prenatal diagnosis in 15-week gestation twins at risk for epidermolytic hyperkeratosis. Direct sequence analysis of genomic DNA from the affected father and from both chorionic villus samples revealed a tyrosine to asparagine mutation at position 14 within the highly conserved 1A alpha-helical segment of keratin 10. None of the unaffected family members that were analyzed exhibit this mutation nor have polymorphic variations been observed in the normal population at this position. This residue is invariant in all type I keratins sequenced to date and is also conserved in related intermediate filament proteins such as vimentin and lamin. Given this high degree of conservation it is probable that any mutation at this position is deleterious and will result in disease.

Adult↗
PubMed1994

Chest X-ray in collagen vascular diseases. A comparison of chest X-ray with bronchoalveolar lavage and transbronchial forceps biopsy.

The diagnostic value of chest X-ray following the ILO standards was compared with bronchoalveolar lavage (BAL) and the histology of transbronchial forceps biopsy in 83 patients with collagen vascular diseases. BAL in the middle lobe was considered abnormal in case of increased cell count per milliliter and/or lymphocytosis and/or neutrophil granulocytosis and this was found in 32 out of 42 cases (76.2%) with, and in 33 of out 41 cases (80.5%) without abnormal radiological finding. Pathological changes in the histology were found in 14 out of 20 cases (70.0%) with and in 40 out of 63 cases (63.5%) without abnormal chest X-ray in the upper lobe from which the transbronchial forceps biopsy specimens were obtained. In histological specimens obtained from transbronchial forceps biopsy, only fibrosis correlated with abnormal radiological findings in this region. Other inflammatory processes defied prediction by chest X-ray. This suggests that, regardless of chest X-ray findings, BAL should be performed together with transbronchial forceps biopsy for the histological examination of patients with collagen vascular diseases in which interstitial lung involvement is suspected.

Adolescent↗
PubMed1993

Neurocutaneous disorders in children.

Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome), Sjögren-Larsson syndrome, trichothiodystrophy, incontinentia pigmenti, CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, Menkes' syndrome, encephalocraniocutaneous lipomatosis, Proteus syndrome, Sturge-Weber syndrome, and so-called hypomelanosis of lto.

Basal Cell Nevus Syndrome↗
PubMed1993

Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. Here we describe two novel KIT mutations associated with human piebaldism. These amino acid substitutions, located in the most highly conserved sections of the KIT kinase domain, would be expected to dominant-negatively inhibit KIT-dependent signal transduction, resulting in aberrant melanocyte proliferation or migration during embryologic development.

Base Sequence↗
PubMed1992

Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later.

Palmoplantar keratoderma (PPK) type Unna-Thost is known to be the most common form of a hereditary disorder of keratinization of palms and soles. The disease is clinically identical with PPK type Vörner which is histologically characterized by epidermolytic hyperkeratosis. By reinvestigation of the family originally seen by Thost in 1880, the features of epidermolytic hyperkeratosis were found histologically confirming the diagnosis PPK of Vörner. This proves the identity of PPK type Thost with PPK of Vörner. Because of the histological variability of epidermolytic hyperkeratosis, detailed light and electron microscopic studies are necessary in cases of diffuse types of PPK.

Adult↗
PubMed1992

[Schöpf syndrome. Clinical, genetic and lipid biochemical studies].

Schöpf syndrome is an unusual genodermatosis categorized within the heterogeneous group of ectodermal dysplasias. Since the first description of this syndrome in 1971, ten further cases have been published. The diagnostic features include eyelid cysts, hypotrichosis, hypodontia, nail dystrophy, and keratosis of palms and soles. When the signs and symptoms noted in all published cases are taken together, considerable clinical variability in the combinations and in the age of onset is observed. The frequent occurrence of benign and malignant tumours of the palms and soles deserves particular attention. Schöpf syndrome is probably not as rare as is commonly believed. A woman with typical clinical features of this syndrome is presented. Schöpf syndrome is assumed to be passed on as an autosomal recessive trait; however the present and two further case reports are not compatible with this mode of inheritance, because family members in several generations are affected. Schöpf syndrome is probably a heterogeneous disorder. Lipid biochemical investigations of stratum corneum by high-performance thin-layer chromatography (HPTLC) show a decrease in the ceramide fraction and an increase in free fatty acids as a percentage of total lipids. The pathophysiological significance of these findings needs further investigation.

Adult↗
PubMed1991

Cytogenetic effects during extracorporeal photopheresis treatment of two patients with cutaneous T-cell lymphoma.

The effect of extracorporeal photopheresis (EP) on various cytogenetic parameters has been investigated. During EP the photoactivatable agent 8-methoxypsoralen (8-MOP) was administered orally. After 2 h a leukocyte-enriched blood fraction was collected by haemocentrifugation, irradiated with UVA extracorporeally, and reinfused to the patient. Two patients suffering from cutaneous T-cell lymphoma showed a marked clinical improvement in response to therapy. In order to investigate the cytogenetic effects and mutagenic risk of EP, the mitotic index (MI), the type and number of chromosomal aberrations and the rate of sister chromatid exchanges (SCE) were studied. Following EP treatment the patients' lymphocytes were cultured and stimulated with phytohaemagglutinin (PHA) for 48 or 72 h. The cultured lymphocytes showed a decreased MI after 48 h as an indicator of cytotoxic effects, but not after 72 h. In lymphocyte cultures not stimulated with PHA, the MI was decreased even after 72 h. The number of chromosomal aberrations and SCE were increased upon treatment, but only transiently, returning to basal levels between consecutive treatments. Our data provides no evidence for increased mutagenic risk as a consequence of effective EP treatment.

Administration, Oral↗
PubMed1991

[Nuclear medicine kidney diagnosis in progressive systemic scleroderma].

Kidney involvement is one of the most frequent causes of death in progressive systemic scleroderma (PSS). It is therefore important to detect potential impairment of renal function in PSS very early. In 76 patients referred for nuclear medicine diagnostic procedures, 42 pathologic results were found with 131I-hippurate clearance, while only 14 abnormal results were detected by static 99mTc-DMSA scans. Hippurate clearance is thus a sensitive method of functional renal evaluation in PSS.

Adolescent↗
PubMed1991

[Acne inversa. Pathogenesis and genetics].

Acne inversa is a chronic inflammatory disorder of sebaceous follicles and terminal hair follicles and is one type of acne diseases. The pathogenesis of acne inversa is identical with that of the other types: Hyperkeratosis of the follicular infundibulum leads to a comedo. Bacterial infections result in a rupture of the follicular canal followed by a granulomatous inflammatory reaction with abscesses, panniculitis and draining sinuses. Acne inversa has so far only occasionally been observed in two or more members of the same family. The familial presentations of acne inversa published in the literature and two observations of familial occurrence among the authors' own patients reveal an autosomal dominant inheritance with high penetrance.

Acne Vulgaris↗
PubMed1991

[Acne inversa. Diagnosis and therapy].

Acne inversa (synonyms: acne triad, acne tetrad or hidradenitis suppurativa, and others) is an inflammatory disease that develops mostly in the axillae, under the breasts and in the anogenital region. The new term, acne inversa, encompasses what was previously called the occlusion triad or tetrad. The disease is relatively common, but the diagnosis is frequently missed. Many different modalities of treatment are recommended in the literature. Radical surgical intervention should be performed at the earliest recognized stage. In the light of experience with our own patients, we propose surgical intervention with wide excision and subsequent healing by secondary intent.

Acne Vulgaris↗