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[Oculo-cutaneous albinism in man. Biochemical, genetic, clinical, and population aspects].

Oculocutaneous albinism comprises hereditary disorders in which there is a congenital absence or reduction of melanin in the skin, hair and eyes, coupled with nystagmus, photophobia and reduced visual acuity. The body is unable to make melanin (a compound derived from the metabolism of tyrosine) due to the functional absence of the enzyme tyrosinase. The disease is transmitted as an autosomal recessive character. In man, there are six conditions distinguishable in relation to their frequency, and their clinical, biochemical, ultrastructural, and genetic characteristics. The attempt to identify the heterozygote has led to contradictory results. Abnormal transparency of the iris has only been observed in some heterozygotes, and this feature cannot be used to recognise carriers. As far as treatment is concerned, the two main problems are sensitivity to sunlight, with concomitant susceptibility to skin tumors, and collateral vision disturbances. Subjects should avoid direct sunlight. Photophobia can be reduced by wearing sunglasses.

Albinism↗
PubMed1983

[Statistical findings on scalp hair as observed by scanning electron microscopy].

The scalp hair of hundred, 20-year-old, healthy human blond and dark volunteers (50 males and 50 females) have been studied by means of scanning electron microscopy. On the photographs, taken at right angles to the length of the hair and always at the same magnification, some measurements have been performed: 1) the hair diameter, 2) the mean scale height, 3) the mean scale number, 4) the scale index and 5) the mean scale width. The obtained data were submitted to a statistical elaboration which gave the following results: a) the hair diameter and the cuticular scale patterns do not show statistically significant differences between males and females and blond and dark subjects; b) an inverse correlation exists between the height and the number of the scales; c) the hair diameter is correlated inversely with the mean scale height and directly with the mean scale number and width.

Adult↗
PubMed1980

[Aplasia of the premolars as a leading symptom of ectodermal dysplasia].

The primary symptom in the tooth system, a tendency toward aplasia of the bicuspid teeth in both dentition periods, was reported for an ectodermal syndrome which has seldom been described. In agreement with the observation by BOOK (1950), we also observed excessive perspiration (hyperhidrosis) and premature graying of the scalp hair (canities prematura). The syndrome, which is limited to ectodermal disturbances, is a dominant trait, the incidence of which is apparently higher in Northern European countries. Trigeminal neuralgias seem to appear in conjunction with this genetic disturbance. Compared with other partial anodontic and oligodontic syndromes, it is striking that no other groups of teeth are affected; the bicuspid teeth however show signs of aplasia, hypoplasia, structural disturbances (discoloration), and premature loss of even the deciduous teeth.

Bicuspid↗
PubMed1980

Coincidental development of forestomach papilloma and prepyloric ulcer in nontreated mutant mice of W/Wv and SI/SId genotypes.

A double gene dose of mutant alleles at either the W or Sl locus produces the pleiotropic effects of anemia, sterility, lack of hair pigmentation, and lack of tissue mast cells. Coincidental development of forestomach papilloma and prepyloric ulcer was observed in about 40% of nontreated (WB X C57BL/6) F1-W/Wv mice raised in our laboratory. The stomach lesions of the W/Wv mice could be detected at the 15th day after birth, and such lesions never appeared in the W/+, Wv/+, and +/+ littermates maintained under the same laboratory conditions. Since the stomach lesions were also observed in (WC X C57BL/6) F1-Sl/Sld mice purchased from The Jackson Laboratory, phenotypes common to both W/Wv and Sl/Sld mice seem to play an essential role in the spontaneous development of the forestomach papilloma and prepyloric ulcer.

Anemia↗
PubMed1982

Ileocolonic aganglionosis in white progeny of overo spotted horses.

The congenital absence of myenteric ganglia in the terminal portion of the ileum, cecum, and entire colon of white foals with overo spotted parents was reported. Males as well as females were affected. The foals were generally normal at birth but did not defecate. Signs of colic were noticed between 5 and 24 hours after birth, with death occurring at 23 to 132 hours.

Animals↗
PubMed1982

Hair zinc levels and nutritional status in urban children from Ilheus, Bahia, Brazil.

The mean +/-s.d. hair zinc levels of 45 pre-school and 70 school children, age 1-12 years, were 123 +/- 74 and 103 +/- 74 micrograms/g hair, respectively. The prevalence of zinc levels less than 70 micrograms/g 15 per cent (9 and 19 per cent for pre-school and school children, respectively). Anthropometric measurements showed that 25 per cent suffered from chronic malnutrition. The form of malnutrition manifested was exclusively stunting, ie, low height-for-age in the presence of adequate weight-for-height. No association was found between low hair zinc levels and nutritional status.

Age Factors↗
PubMed1982

[Distribution of melanocytes in the dorsal skin of genetic mouse chimeras].

Chimeras were obtained by aggregating two embryos from inbred mice (C57BL/Mib), C57BL/Mib mice, and outbred albino mice (c/c). It was shown that C57BL/Mib AKP chimeras had unbalanced pigment distribution with a higher proportion of AKR melanocytes in the posterior coat, while C57BL/Mib c/c chimeras had unbalanced pigment distribution with a higher proportion of C57BL/Mib melanocytes in the posterior coat. This observation can be explained, provided the differences in the migration rate of the three melanocyte populations from the neural crest are controlled genetically.

Animals↗
PubMed1981

[Homocystinuria. Histological and ultrastructural study. Report of a case (author's transl)].

The histological and ultrastructural appearance of the skin is reported in a case of homocystinuria. By optical microscopy, the collagen fibers appear granulose and non fascicular in the superficial dermis; in the deeper layers they are rare; the elastic network of the medium and lower dermis is thick and disrupted. Electron microscopically, some fibroblasts exhibit large autophagic vacuoles; the collagen fibers are normal while the elastic fibers are broken and dense; the dermal capillaries are normal. Vitamin B6 has shown its action by recoloring the patient's hair.

Child↗
PubMed1981

Inheritance of microphthalmia with coloboma in the Australian shepherd dog.

Microphthalmia with coloboma behaves as an incompletely penetrant recessive trait in the merle Australian Shepherd dog. Microphthalmia and related anomalies occurred more often in merle dogs with predominate white than in merles with limited white hair coat. The study did not establish a genetic relationship between the amount of merling and microphthalmia. The inheritance of merling behaved as a dominant trait, but fewer non-merles occurred than were expected. Variations in white spotting were satisfactorily explained by several hypotheses involving 2 or 3 alleles at the S locus. Each requires some or all homozygous merles to be largely white and 1 or more of the S alleles to exhibit some extent of dominance over other alleles in the series.

Animals↗
PubMed1981

[The occurrence rate of neonatal anomaly depending on aging of grafted ovaries in C57BL/6J strain mice (author's transl)].

That the birth rate of neonatal anomaly is accelerated by the aging of mothers, number of epidemiological studies have made it clear. Almost no experimental studies, however, have been made in quest of causes for such multi-occurrence of anomalies in the aging of ovaries. The author conducted, in elucidating of basic solution to the subject query, experiments using mice as follows: In order to maintain a constant age of mothers, the different aged ovaries of C57BL/6J-pm strain mice, silver-grey hair, were orthotopical grafted in young (100-200 days in age) castrated female mice, C57BL/6J strain, black hair. Subsequently, such grafted mice were mated with C57BL/6J-pm strain young fixed aged males (100-200 days in age). In such cases, the recipients of ovaries from the silver-grey mice of recessive gene genetically have black hair in color domination, the fact that the birth of silver-grey newborn mice gives full proof of the successful grafting of ovaries. Cannibalism is a common practice in rodents in a case of stillbirth for delivering neonatal anomaly. The author, using such phenomenon, tried to surmise the occurrence rate of malformed neonates. The author also conducted observations on the possible presence of superficial and bone malformation in the newborn mice that were freed from cannibalism. (1) As the age exceeded 401 days in the non-treated C57BL/6J strain mice, whereas the fertility showed a sharp decrease, there was, at the same time, a strong sign of uprising trend in the occurrence rate of superficial and bone malformation. (2) It became clear in the cases of newborn mice from the grafted ovaries that there was a high incidence not only of cannibalism in concert with the aging of ovaries, but also of neonatal anomaly when the age of ovaries exceeded 401 days. This phenomenon bears a close resemblance to that in naturally born mice. The results obtained above have, for the first time, suggested to us that the frequent occurrence of neonatal anomalies related to maternal aging seems likely to be strongly influenced by the ovarian aging, but not by the aging of the other organs in the mother mice.

Aging↗