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H Traupe

Publications and source records attributed to H Traupe.

At least 91 records · Page 5Linked to original sources
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

Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome".

Dysplastic nevi represent precursor lesions harboring an increased risk of evolving into melanoma. Their association with familial melanoma is usually considered a monogenic syndrome with autosomal dominant transmission. To test this concept we estimated the mutation rates. When derived directly from the sporadic occurrence of the trait, the mutation rate is exceedingly high (0.9%-2.5%), whereas, as estimated with the aid of Haldane's formula it would be 0.007% to 0.02%. Accordingly, newly arising mutation would outnumber eliminated mutations by 100:1. Even if only 80% of all old mutations are passed onto the next generation, this ratio of 100:1 would rapidly change. After only a few generations, 10% of the world population should be affected with the dysplastic nevus "syndrome". The apparent lack of a genetic equilibrium between newly arising and eliminated mutations is not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome."

Chromosome Aberrations↗
PubMed1989

Loose anagen hair of childhood: the phenomenon of easily pluckable hair.

We report two unrelated boys aged 4 and 9 years who had the recently delineated phenomenon of easily pluckable hair. Hair tufts could be pulled out without effort and without pain. Alopecia without any sign of scalp inflammation or scarring was noted. In the older child spontaneous remission occurred within 3 months, whereas the condition remained active in the younger boy for a follow-up period of 1 year. Trichograms from clinically involved and uninvolved areas disclosed a striking predominance of anagen hairs (98% to 100%) and complete absence of telogen hairs. A loss of the normal round or oval configuration of many hair shafts could be well visualized by the shrinking tube technique. Horizontal and transverse sections of scalp obtained for biopsy revealed marked cleft formations between hair shafts and regressively altered inner root sheaths. We suggest the name loose anagen hair of childhood for this newly described disease.

Alopecia↗
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

[The clinical picture of a giant elongated basilar artery].

Lack of volition and immobilizing dizziness were the cardinal presenting symptoms of a 67-year-old man. On account of nonspecific inflammatory signs and weight loss of 18 kg, broad diagnostic tests were undertaken to exclude inflammatory or malignant disease. All were negative, but discrete neurological deficits pointed to cranial nerve or cerebral lesions which had brought about dizziness and dysphagia with vomiting and recurrent aspirations. The cause was found to be a giant aneurysmic dilation and lengthening of the basilar artery. Anticoagulant treatment may be used to reduce the risk of embolism, but complications caused by pressure on cerebral structures or by rupture cannot be avoided.

Aged↗
PubMed1988

Identification of andrologic patient groups by cluster analysis.

To test the validity of the current andrologic classification system, we performed cluster analysis in 317 andrologic patients involuntarily barren for more than 1 year. For cluster analysis, the spermatologic parameters sperm density, motility, and morphologic features were used since only these parameters contributed significantly to group identification, as revealed by stepwise discriminant function analysis. The optimal number clusters determined by calculation of the variance criterion was five. The resulting five groups partly correspond to the prevailing descriptive classification system as far as the extreme groups of "high-grade oligoteratoasthenozoospermia" and "polyzoospermia" are concerned. Surprisingly, cluster analysis distinguished between two groups of normozoospermia that differed in their mean sperm density. Cluster analysis may prove to become a powerful tool for andrologic classification.

Humans↗
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

Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?

In a retrospective study, we reevaluated the biopsies that had been obtained, during the past 11 years, from 26 patients presenting with hereditary palmoplantar keratoderma (PPK). Twelve out of 26 biopsies disclosed the histological features of epidermolytic hyperkeratosis, consistent with the diagnosis of epidermolytic PPK of Vörner. A review of the histologically examined cases of the literature revealed a comparable predominance of this hereditary PPK. We conclude that, in contrast to the current opinion, epidermolytic PPK of Vörner represents the most frequent type of hereditary PPK.

Child, Preschool↗
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↗
PubMed1988

Acne of the fulminans type following testosterone therapy in three excessively tall boys.

Ulcerative acne was observed in three boys who underwent long-term treatment with high doses of testosterone for excessively tall stature. Even after withdrawal of testosterone therapy, this devastating type of acne still persisted for several months. After starting isotretinoin treatment, two cases progressed to full-blown acne fulminans with systemic manifestations. In these two cases, oral isotretinoin therapy induced multiple lesions of hyperproliferative granulation tissue resembling pyogenic granuloma. Topical steroid treatment proved to be beneficial for this adverse effect. Systemic corticosteroid treatment was administered in one case. High testosterone levels during puberty may be an important trigger mechanism of acne fulminans and may explain why this disease almost exclusively affects male adolescents.

Acne Vulgaris↗