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H Traupe

Publications and source records attributed to H Traupe.

At least 19 recordsLinked to original sources
PubMed1992

Psoriasis vulgaris, fetal growth, and genomic imprinting.

We report on 2 independent lines of evidence suggesting genomic imprinting of a major gene for psoriasis vulgaris. First, the birth weight of children from psoriatics is influenced by the sex of the psoriatic parent. Children from fathers with psoriasis are considerably (270 g) heavier than children from mothers with psoriasis (P less than 0.004). Second, the disease manifestation (penetrance) depends in part on the sex of the psoriatic parent. Offspring from fathers with psoriasis and male "gene carriers" are significantly (P less than 0.015 and P less than 0.007) more often affected than offspring from mothers with psoriasis and female "gene carriers." Of 91 grandchildren with psoriasis 59 (65%) have an affected grandfather and 32 (35%) a psoriatic grandmother. This deviation from the expected distribution is significant (P less than 0.04). Genomic imprinting is considered a special case of epigenetic modification. We propose that epigenetic modifications of a major predisposing gene in somatic tissues could cause differences in disease activity of psoriasis and could account for the often unpredictable clinical course the disease takes.

Birth Weight↗
PubMed1992

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Homology with the mouse bare patches mutant suggests that the gene for the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature syndrome (Happle syndrome) is located in the human Xq28 region. To test this hypothesis, we performed a linkage study in three families comprising a total of 12 informative meioses. Multiple recombinations appear to exclude the Xq28 region as the site of the gene. Surprisingly, multiple crossovers were also found with 26 other markers spread along the rest of the X chromosome. Two-point linkage analysis and analysis of recombination chromosomes seem to exclude the gene from the entire X chromosome. Three different mechanisms are discussed that could explain the apparent exclusion of an X-linked gene from the X chromosome by linkage analysis: (a) different mutations on the X chromosome disturbing X inactivation, (b) metabolic interference, i.e. allele incompatibility of an X-linked gene, and (c) an unstable pre-mutation that can become silent in males. We favour the last explanation, as it would account for the unexpected sex ratio (M:F) of 1.2:1 among surviving siblings, and for the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations.

Body Height↗
PubMed1992

Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.

Human biglycan is a small proteoglycan that is expressed at high levels in the growing skeleton and in human skin at the cell surface of differentiating keratinocytes. The human gene for biglycan (BGN) has previously been mapped by in situ hybridization to the Xq27-q28 region. Employing somatic hybrid cell lines with human X chromosome breakpoints within this region, we performed a fine mapping of the gene within Xq28. Our results indicate that the biglycan gene is proximal to the red/green cone pigment genes, G6PD, and coagulation factor VIII and is distal to DXS304, DXS305, and GABRA3. The biglycan gene precisely maps to a region of the X chromosome, where, by comparative gene mapping, one would expect to find the gene for X-linked dominant chondrodysplasia punctata/ichthyosis/short stature (Happle) syndrome. Hence, BGN is a candidate gene for the Happle syndrome.

Animals↗
PubMed1992

The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate.

Substantial evidence indicates that genetic factors may have a role in the etiology of alopecia areata (AA). Most studies, however, provide only general information on the familial incidence but fail to specify family relationships. We therefore obtained information on the incidence of AA in first degree relatives of 348 severely affected patients. In 7% one of the parents was affected. Among the siblings of the patients 3% had developed AA, while AA was present in 2% of the children. Taking into account the age of the children, their lifetime risk was calculated to approach 6%. However, a severe type of AA is to be expected only in about 2% of the children. The degree of involvement observed in the patients did not influence the frequency and type of AA present in their first degree relatives.

Adolescent↗
PubMed1991

Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.

We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are non-obligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.

Alopecia↗
PubMed1991

Computable radiology.

Explore the source record for details and available documents.

Radiographic Image Interpretation, Computer-Assist↗
PubMed1991

Epidermal transglutaminase in the ichthyoses.

Membrane-bound transglutaminase (TGm) is responsible for the cross-linking of proteins to form the cornified envelope. Since abnormalities have been reported in the envelope in certain ichthyoses, we have carried out a survey of TGm concentrations in scales from these disorders. Surprisingly, a striking and specific increase in enzyme activity was found in patients with non-erythrodermic autosomal recessive lamellar ichthyosis. It is not clear how this increase is related to the underlying recessive mutation.

Adolescent↗
PubMed1990

Enzymatic distinction between two subgroups of autosomal recessive lamellar ichthyosis.

It has been proposed that the autosomal recessive lamellar ichthyoses may be divided into two subgroups, the erythrodermic (EARLI) and non-erythrodermic (NEARLI) forms. We report measurements of the enzymes beta-glucosidase, a recently described phosholipase, a short-chain carboxylesterase ("butyrase"), and a long-chain carboxylesterase ("palmitase") in aqueous extracts of scales from patients diagnosed according to clinical and micromorphologic criteria, and show that beta-glucosidase and phospholipase tend to be lower in the EARLI group, whereas butyrase is relatively low in the NEARLI group. The internal ratio of either butyrase/glucosidase or butyrase/phospholipase yields a clear separation of the two subgroups, supporting the concept of heterogeneity in this group of diseases.

Adolescent↗
PubMed1990

[What is new in genetically-induced hair diseases?].

A profound knowledge of specific genetically determined anomalies of the hair may be of considerable value in the diagnosis of genetic syndromes. We give a review of a few recent developments in the field of genetic hair diseases. For example, the brittle hair due to sulphur deficiency (trichothiodystrophy) is nowadays regarded as genetically heterogeneous; three different syndromes can be distinguished: BIDS syndrome, Tay syndrome, and PIBIDS syndrome. Polarization microscopy revealed a striking resemblance of the hair anomalies found in trichothiodystrophy syndromes and those in acrodermatitis enteropathica. This surprising result indicates similar pathophysiological mechanisms. The Comèl-Netherton syndrome--long regarded as representing two different diseases--has recently been recognized as a clinically variable, but genetically homogeneous syndrome, which is most likely based on a single mutation ("lumping"). Minor's sweat test allows the recognition of women heterozygous for X-linked hypohidrotic ectodermal dysplasia and may help to appreciate seemingly non-specific hair findings, such as diffuse alopecia.

Ectodermal Dysplasia↗
PubMed1989

[Acne fulminans following high-dose testosterone treatment in tall boys].

In three boys, aged 12.5, 14 and 16 years, respectively, acne of the fulminans type developed after eight to twelve months' administration of 250 mg testosterone weekly or 500 mg every second week. Numerous deep and painful pustules grew, dominantly on the chest and back, in one of the boys also in the face. In addition fever and fatiguability set in, as well as bone and joint pains in some. Erythrocyte sedimentation rate and leukocyte counts were raised. Testosterone was at once discontinued and isotretinoin, in one boy also antibiotics, administered, this treatment lasting for 8 to 13 months. All three boys were left with disfiguring scars. Before testosterone is given to arrest growth in tall boys both patient and parents should be told of these potentially severe side effects.

Acne Vulgaris↗
PubMed1989

Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern.

Autosomal dominant lamellar ichthyosis (ADLI) is a recently recognized genetic skin disorder. Clinically and histologically, it cannot be distinguished with certainty from the more frequent autosomal recessive lamellar ichthyosis (ARLI), which in itself may still be heterogeneous. By ultrastructural examination of ADLI a prominent transforming zone between the stratum granulosum and stratum corneum and lipid inclusions in the stratum corneum have been observed. Using sequential high-performance thin-layer chromatography, we studied the plantar scale lipid pattern of two patients, mother and daughter, affected with ADLI. We found a distinctive alteration in the relative composition of the scale lipid pattern characterized by excessive amounts of free fatty acids, triglycerides, elevated n-alkanes, reduced free sterols and decreased total ceramides. This scale lipid profile clearly differs from that of the erythrodermic and non-erythematous variants of ARLI and confirms that this disorder is a distinct entity of the heterogeneous group of lamellar ichthyoses.

Alkanes↗
PubMed1988

Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?

We cared for two sisters, ages 3 and 4 years, who suffered from congenital atrichia. Scalp biopsies performed on both children revealed a marked atrophy of hair follicles with rudimentary hair shafts. The absence of peribulbar infiltrates ruled out alopecia areata. Dystrophy of all nails, distinctive facies, retarded psychomotor development, and a delay in speaking were additional symptoms. The unique combination of findings excludes well-established syndromes such as atrichia with papular lesions, GAPO syndrome, and dominant hidrotic ectodermal dysplasia, as well as X-linked hypohidrotic ectodermal dysplasia. We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance.

Alopecia↗
PubMed1988

[The cytoskeleton in hereditary ichthyoses].

The hereditary forms of ichthyosis can be considered to be models of impaired terminal epidermal differentiation. Analysis of the cytokeratin polypeptide pattern represents a new attempt at elucidating the mechanisms of keratinization mechanisms which are still unclear. We therefore studied the cytokeratin expression of the following types of ichthyosis: autosomal dominant ichthyosis vulgaris (n = 4), X-linked recessive ichthyosis vulgaris (n = 4), recessive non-bullous congenital ichthyosiform erythroderma (n = 1), recessive classical lamellar ichthyosis (n = 2), autosomal dominant lamellar ichthyosis (n = 1), and Netherton syndrome (n = 1). After dissection of frozen sections of the interfollicular epidermis, two-dimensional gel electrophoresis was performed. For immunofluorescence microscopy a panel of monoclonal cytokeratin antibodies (KG8.13, KK8.60, KA5 and AE1) was used. Cytokeratin polypeptide expression was basically unchanged compared with normal epidermis. In contrast, however, the antibody AE1 did not stain the basal cell layer in most types of ichthyosis, regardless of their genetic type. The cytokeratin polypeptides nos. 6 and 16, which are generally considered markers of hyperproliferation, were not expressed in either type of ichthyosis vulgaris (XRI or ADI), but were detected in trace amounts in various types of congenital ichthyosis.

Antibodies, Monoclonal↗
PubMed1986

Evidence that water acts as a carrier for an epidermal antigen in aquagenic urticaria.

Two female patients with aquagenic urticaria were studied in order to better clarify the pathogenesis of urticarial reactions to water. One patient suffered also from atopy and from cholinergic and chronic urticaria, and two of her sisters had noted aquagenic urticaria since puberty. The second patient had had aquagenic urticaria for only 2 years. Local applications of ethyl alcohol (96%) to the patients' skin did not elicit any lesions, and pretreatment of the skin with topically applied atropine did not inhibit whealing in response to water. Intracutaneous injections of aqueous extracts of human callus resulted in reproducible burning sensations in the patients' skin but not in control skin. Injections of buffer alone or of supernatants of stimulated epidermal cell suspension induced no abnormal reactions in patients' skin or control skin. Callus extracts also caused in vitro basophil histamine release from patients' peripheral blood basophils but not from cells of a healthy volunteer. These data suggest that patients with aquagenic urticaria react to a water-soluble antigen in the epidermal horny layer that diffuses into the dermis to cause histamine release from sensitized dermal mast cells.

Adolescent↗