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Biomedical subjects

R Happle

Publications and source records attributed to R Happle.

At least 307 records · Page 17Linked to original sources
PubMed1983

[Genodermatosis in man and animal. Comparative overview].

Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients.

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↗
PubMed1983

[Cutaneous signs and symptoms of X-linked chondrodysplasia punctata in man and mouse].

X-linked dominant chondrodysplasia punctata is a human gene defect characterized by stippled epiphyses, cataracts and cutaneous lesions distributed in a linear and blotchy pattern. The skin lesions include congenital ichthyosiform erythroderma, systematized atrophoderma mainly involving the hair follicles, and circumscribed alopecia. Similar cutaneous anomalies are described in the murine X-linked mutant bare-patches. Moreover, we found similar skeletal and ocular anomalies in this mouse, supporting the assumption that the underlying gene defects are homologous in man and mouse.

Adolescent↗
PubMed1982

Hamartomatous dental cusps in hypomelanosis of Ito.

Multiple dental cusps, protruding from the crowns of both deciduous and permanent incisors, were observed in a 4-year-old girl affected with hypomelanosis of Ito. This unusual dental anomaly has been described in one previous report of this neurocutaneous syndrome. In contrast to ordinary talon cusps, the dental outgrowths observed in hypomelanosis of Ito appear to be of hamartomatous origin. Apparently, these dental deformities are characteristic of hypomelanosis of Ito and may help to identify the syndrome in cases where other findings are minimal or atypical.

Child, Preschool↗
PubMed1982

Evidence for the Carter effect in atopy.

In atopy, the sex ratio deviates markedly from unity when the specific organ manifestations are considered separately. In atopic asthma, the male to female ratio is about 2:1. In the children of patients affected with atopic asthma, we determined the incidence of atopic dermatitis, atopic asthma and atopic rhinitis. Among children of women affected with atopic asthma, we found more often atopic manifestations than among children of men affected with atopic asthma (44 vs. 25.5%). This phenomenon, called the Carter effect, can be explained by the multifactorial mode of inheritance. A certain number of genes is necessary for clinical signs of atopy to become manifest. Women with atopic asthma have a higher threshold and therefore transmit more predisposing genes to their children. This demonstration of the Carter effect is a further argument in favor of polygenic inheritance of atopy.

Adolescent↗
PubMed1982

[X-chromosome-linked hereditary dermatoses].

In X-linked inheritance, the difference between the terms dominant and recessive is blurred by the Lyon effect. In some X-linked recessive genodermatoses, the Lyon effect makes the detection of heterozygote females possible, either by clinical cromanifestations or by enzymatic demonstration of two functionally different populations of cells. The gene locus of X-linked recessive ichthyosis, however, escapes X-inactivation, but heterozygotes can be detected by enzyme analysis in this condition, too. X-linked dominant gene defects with manifestation in both sexes include keratosis follicularis spinulosa decalvans, and probably also the Bazex syndrome. The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypoplasia, the oral-facial-digital syndrome and the CHILD syndrome. Prenatal diagnosis of severe X-linked conditions can be performed when the underlying defect of cell function is known (Fabry disease, Menkes syndrome). In other severe X-linked disorders, the possibility of prenatal determination of the sex may be considered (Wiskott-Aldrich syndrome, X-linked dominant chondrodysplasia punctata, oral-facial-digital syndrome).

Ehlers-Danlos Syndrome↗
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↗
PubMed1981

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.

Cataracts are suggested as a diagnostic marker to differentiate between the three types of chondrodysplasia punctata so far known. Both the rhizomelic and the X-linked dominant types are associated with cataracts in about two-thirds of the cases. In the rhizomelic type, the opacities tend to be bilateral and symmetrical. In the X-linked dominant type they are usually asymmetrical and often unilateral. In contrast, the consistent lack of cataracts is characteristic of the autosomal dominant type of chondrodysplasia punctata.

Cataract↗
PubMed1981

Physiocochemical properties of "spun glass" hair.

The amount of protein solubilized with a Trisurea-mercaptoethanol buffer was markedly reduced in a patient with"spun glass" hair but normal in 3 other patients with similar appearing hair. Polyacrylamide gel electrophoresis showed that it was mainly the matrix component that was solubilized. X-ray diffraction and stress strain tests on the "spun glass" hair proved normal, as was the amino acid analysis. The cause of the insolubility has not been established.

Amino Acids↗
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↗