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Biomedical subjects

H Traupe

Publications and source records attributed to H Traupe.

At least 127 records · Page 7Linked to original sources
PubMed1984

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

We report a 5-year-old boy affected with the Tay syndrome, and give a review of 12 pertinent cases previously reported under various designations. The Tay syndrome is a distinct type of congenital ichthyosis characterized by a peculiar anomaly of hair growth which has been termed trichothiodystrophy. The hair shafts are extremely brittle, and they show alternating light and dark banding when examined microscopically between polarizing filters. Other features of this syndrome are low birth weight, short stature, mental retardation, delayed neuromuscular development and other CNS anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely aged facial appearance, hypogonadism, cataracts, osteosclerosis, dysphonia, and increased susceptibility to infections. The syndrome is inherited as an autosomal recessive trait. We delineate the criteria for distinguishing this gene defect from other types of congenital ichthyosis associated with disturbed hair growth, as well as from other types of trichothiodystrophy which are not associated with ichthyosis.

Growth Disorders↗
PubMed1984

Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing.

We report two cases with ichthyosis vulgaris, hypogenitalism and hypogonadism. So far, little endocrinological information has been available on this association and the exact type of ichthyosis was unknown. Our first patient suffered from very severe hypergonadotropic hypogonadism, whereas the second patient showed normal levels of luteinizing hormone, but slightly elevated follicle stimulating hormone values. In lipoprotein electrophoresis we found fast moving beta-lipoproteins in the first patient and a normal electrophoretic mobility of pre- beta and beta-lipoproteins in the second patient. Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X-linked recessive ichthyosis. These two different types in the association of ichthyosis with hypogenitalism and hypogonadism could not be discriminated by clinical, morphological and cytogenetic studies.

Abnormalities, Multiple↗
PubMed1984

Autosomal dominant lamellar ichthyosis: a new skin disorder.

Lamellar ichthyosis (nonbullous congenital ichthyosis) has been explained as an autosomal recessive trait. We have found an autosomal dominant type of this disorder. Four patients, belonging to three consecutive generations of a family, were affected from birth. The disorder was characterized by large, dark brown scales covering the entire body including flexural folds, palms and soles. X-linked recessive ichthyosis was excluded by clinical appearance, pattern of transmission and normal electrophoretic mobility of beta-lipoproteins. Autosomal dominant ichthyosis vulgaris and bullous ichthyosiform erythroderma were excluded by the histological and ultrastructural features. In the absence of a positive family history, this skin disorder would have been taken for autosomal recessive lamellar ichthyosis. This new autosomal dominant type of ichthyosis should be considered for differential diagnosis, when genetic counselling is given in a sporadic case of lamellar ichthyosis.

Child↗
PubMed1984

Relative cerebral perfusion by rapid sequence tomography.

Rapid Sequence Tomography is shown to be a valid instrument to study the local distribution of more or less vascularized brain structures. Functional states as hypo- or hyperperfusion become clearly visible. RSCT permits a clear differentiation between intra- and extravascular contrast enhancement and offers an excellent insight into the angioarchitecture and quality of cerebral lesions.

Brain Neoplasms↗
PubMed1983

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. In a further boy we observed unilateral inguinal cryptorchidism without a history of birth complications. In one patient who had been delivered by forceps, abdominal bilateral cryptorchidism resulted in severe hypogenitalism. A review of the literature revealed 30 cases with X-linked recessive ichthyosis displaying hypogenitalism or cryptorchidism or both. In conclusion, cryptorchidism should be considered as a further clinical manifestation of steroid sulfatase deficiency.

Adolescent↗
PubMed1983

Neuronal injury following permanent middle cerebral artery occlusion in cats.

The border of a chronic infarct is sharply demarcated. We found in our investigation, however, that this is merely a macroscopic diagnosis and does not say anything about the structure of the tissue and the content of morphologically preserved neurons in the marginal zones. In six cats the left cerebral artery was permanently occluded. Eight weeks later the animals were killed and autoradiographic investigations were conducted on cryostat sections to determine rCBF. Adjacent to every 20-microns section, a 10-microns HE section was prepared. Preserved nerve cells were counted in several areas of the cortex in a symmetric fashion in both the infarcted and the contralateral side in the identical regions where rCBF had been measured in the preceding section. Two additional non-ischemic cat brains served as controls, which were investigated in the same manner as described above. A marked loss of neurons was observed in the border zone of the infarct. Only occasionally preserved ganglion cells were seen in each cortical layer. Even in areas one gyrus distant to the margin of the infarct the number of neurons was still reduced by one third as compared to the contralateral side. Starting only with the lateral gyrus the number of ganglionic cells was found to be equal on both sides.

Animals↗
PubMed1983

Alopecia ichthyotica. A characteristic feature of congenital ichthyosis.

Scarring patchy alopecia is a characteristic feature of various forms of congenital ichthyosis (congenital ichthyosiform erythroderma). 4 patients presenting this scalp disease are described. The hair loss is obviously a consequence of the ichthyosiform erythroderma, and therefore we propose for this type of pseudopelade the term alopecia ichthyotica.

Adolescent↗
PubMed1982

Demonstration of decreased functional activity of visual cortex by [11 C]methylglucose and positron emission tomography.

A hemorrhagic infarction which caused left hemiparesis and homonymous hemianopia was demonstrated as a hypodense lesion on the first CT; 2 weeks later it was hyperdense and enhanced after injecting meglumine. Positron emission tomography with [11C]methyl-D-glucose also revealed the ischemic lesion, but also marked decrease of glucose uptake in the visual cortex, which indicated decreased functional activity.

Adult↗
PubMed1982

[Polygenic inheritance of familial malignant melanoma].

Familial occurrence of malignant melanoma is mostly due to a hereditary disposition which is phenotypically characterized by light complexion and multiple precursor nevi. The inheritance of this disposition is not monogenic but polygenic. The following arguments are in favor of polygenic inheritance: Lack of a uniform pattern of transmission, frequent sporadic occurrence of this phenotype, variable intensity of manifestation within the same family, evidence for polygenic inheritance of fair complexion, and demonstration of polygenic inheritance of melanoma in Xiphophorin fish. In melanoma families, children of affected women develop melanoma more frequently than children of affected men. The authors interpret this phenomenon as a manifestation of the Carter effect. This mechanism is proposed as a new argument in favor of a polygenic inheritance of familial malignant melanoma.

ABO Blood-Group System↗
PubMed1981

[DNA repair in xeroderma pigmentosum].

DNA-repair of two patients affected with xeroderma pigmentosum was evaluated in lymphocytes after UV-exposure by mitotic index, sister chromatid exchange (SCE) and nucleoid sedimentation. The first patient showed no increase in SCE-rate and a sedimentation profile typical of repair deficient cells. In the second patient an increase in SCE-rate and a considerable, but delayed DNA-repair activity in nucleoid sedimentation was found indicating 2 genetically different defects of DNA-repair. In the second patient a defect of postreplication repair is assumed.

Child↗
PubMed1980

[Clinical features and genetics of the ichthyosis vulgaris group].

Combined application of clinical, genetic and histological criteria in general allows a definite diagnosis of autosomal dominant ichthyosis vulgaris and of X-linked recessive ichthyosis. For differential diagnosis, the following rare syndromes should be considered: ichthyosis bullosa: Refsum syndrome; Jung-Vogel syndrome; ichthyosis with corneal opacity, pili torti and alopecia; ichthyosis with deafness, pili torti and dental anomalies; and ichthyosis with hepatosplenomegaly and cerebellar degeneration.

Deafness↗
PubMed1980

Demonstration of heterogeneity in xeroderma pigmentosum.

Two cases of xeroderma pigmentosum were studied at the cytogenetic and molecular level. DNA repair impairment was revealed in case 1 by a nucleoid sedimentation technique whereas a half diminished rate of DNA repair could be demonstrated in case 2. This may be a further case of a xeroderma pigmentosum variant.

Child, Preschool↗