Congenital Hypotrichosis Research Articles

Inheritance of the "rat-tail" syndrome and its effect on calf performance.

A form of congenital hypotrichosis, commonly know as the "rat-tail syndrome," occurs in a small percentage of calves produced by crossing some Continental cattle breeds with cattle that are black in color. These calves are characterized by short, curly, malformed, sometimes sparse hair and a lack of normal tail switch development. In our first study, performance of 43 rat-tail calves was compared with that of 570 non-rat-tail calves of the same breeding and contemporary groups. All rat-tail calves were sired by Simmental bulls and were from cows with various percentages of Angus breeding. The rat-tail condition had no effect on birth weight, weaning weight, or gain from birth to weaning. However, rat-tail calves had significantly lower rates of gain during the winter months from weaning to yearling than non-rat-tail calves, resulting in a 19 kg lighter yearling weight. Gains of steers from yearling to slaughter were not significantly different, but rat-tail steers were 36 kg lighter (P = .01) and 13 d older (P = .15) at slaughter than the non-rat-tail steers. In a second study, Angus-Simmental F1 males and females with the rat-tail condition were mated to produce 64 F2 offspring that were used to determine the mode of inheritance of this syndrome. Analysis showed that the rat-tail syndrome is controlled by interacting genes at two loci. Cattle that express the syndrome must have at least one dominant gene for black color and be heterozygous at the other locus involved.

Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?

We report three members of a family with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. They also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. As far as we are aware, this combination of clinical features has not been described previously.

Overlap between the Bazex syndrome and congenital hypotrichosis and milia

American Journal of Medical GeneticsVolume 56, Issue 4 p. 423-424 Letter to the Editor Overlap between the Bazex syndrome and congenital hypotrichosis and milia Dr. Didier Lacombe, Corresponding Author Dr. Didier Lacombe Department of Pediatric GeneticsDepartment of Pediatric Genetics, Pellegrin-Children's Hospital, Place Amélie Raba-Léon, F-33076 Bordeaux Cédex, FranceSearch for more papers by this authorAlain Taïeb, Alain Taïeb Department of Pediatric Dermatology Pellegrin Children's Hospital University of Bordeaux II Bordeaux, FranceSearch for more papers by this author Dr. Didier Lacombe, Corresponding Author Dr. Didier Lacombe Department of Pediatric GeneticsDepartment of Pediatric Genetics, Pellegrin-Children's Hospital, Place Amélie Raba-Léon, F-33076 Bordeaux Cédex, FranceSearch for more papers by this authorAlain Taïeb, Alain Taïeb Department of Pediatric Dermatology Pellegrin Children's Hospital University of Bordeaux II Bordeaux, FranceSearch for more papers by this author First published: 8 May 1995 https://doi.org/10.1002/ajmg.1320560415Citations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume56, Issue48 May 1995Pages 423-424 RelatedInformation

The Bazex-Dupré-Christol Syndrome

The Bazex-Dupré-Christol syndrome is characterized by follicular atrophoderma, congenital hypotrichosis, and basal cell neoformations that include basal cell carcinomas and basal cell nevi. We describe a large family in which 20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome. However, the clinical picture in this family differs with regard to gender and age. Male subjects have a uniformly severe disease, whereas female subjects exhibit a range of severity of the syndrome. The most striking difference between male and female subjects is provided by hypotrichosis. In male subjects, hypotrichosis is diffuse and affects all scalp hairs. On the other hand, female subjects do not have hypotrichosis, but normal hairs are intermingled with abnormal hairs. In infancy and childhood, multiple milia are present, whereas in adults only a few milia are observed. The family pedigree seems to be consistent with an X-linked inheritance, since male-to-male transmission does not occur. Moreover, further evidence of an X-linked dominant mode of inheritance could be derived from the observation of gender differences that can be attributed to the lyonization phenomenon in female subjects. From a clinical and morphologic point of view, the Bazex-Dupré-Christol syndrome seems to be a disorder of the hair follicle.

Generalized Congenital Hypotrichosis in a Female Rottweiler

Abstract— Generalized congenital hypotrichosis is reported in a female Rottweiler. This is only the second report of this genodermatosis in a female dog. The dog was predominately hairless except for bilaterally symmetric tufts of hair on the head, dorsal midline and umbilical region. Most skin biopsy sections revealed a total lack of epidermal appendages representing a complete failure of follicular development. Occasionally, small rudimentary follicular structures were subtended by melanophages and vertically oriented collagen suggesting the possibility of previously more extensive development followed by subsequent involution. According to a new classification scheme for ectodermal dysplasia proposed by Dr Carol Foil, this dog would be classified as 1–4 defect, cogenital hypotrichosis.Résumé— Une hypotrischose congénitale généralisée chez une chienne Rotweiler est rapportée. Il s'agit du second cas de cette génodermatose décrit chez une chienne. Le chien était nu exception faite de touffe de poils sur les flancs et la tête, la ligne du dos et la region ombilicale. La plupart des biopsies ont révélé une absence totale d'annexe et de développment folliculaire. Parfois quelques structures folliculaires rudimentaires étaient subtentés par la présence de mélanophages et une orientation verticale des fibres de collagène. En suivant la nouvelle classification des dysplasies ectodermiques proposée par le Dr Carol Foil, cet animal a été classé en hypotrychose congénitale de défaut 1–4.Resumen En éste artículo se describe un caso de hipotricosis congénita de tipo generalizado en una hembra de la raza Rottweiler. Éste es el segundo caso de genodermatosis reportado en una perra. Éste animal padecía de una pérdida de pelo general exceptuando algunas mechas aisladas en la cabeza, línea media dorsal y región umbilical, de una manera bilateral y simétrica. La mayoría de las biopsias cutáneas revelaron una falta total de apéndices cutáneos, lo cual representaba una fallo completo en en desarrollo del folículo. De manera espóradica, se observaron estructuras foliculares rudimentarias ínvadidas de melanófagos y con fibras de colágeno orientadas verticalmente sugiriendo la posibilidad de desarrollo previo mas extensivo seguido de posterior involución. De acuerdo con la nueva clasificación de displasia ectodérmica propuesta por Foil, éste animal sería clasificado con un defecto de 1–4 de hipotricosis congenital.

Congenital hypotrichosis in a French bulldog

The occurrence of congenital alopecia in one of a litter of four female French bulldogs is described. With the exception of the hair coat the affected bitch was clinically normal. The distribution of the sparse hair (head, tip of the tail and paws) mimicked that seen in the Chinese crested dog. Histopathological examination of skin biopsies revealed features frequently observed in congenital alopecia - a reduction in number of hair follicles, hypoplasia or absence of epidermal appendages and pronounced follicular hyperkeratosis, abnormalities of collagen and elastic fibres were not detected.

Congenital hypotrichosis in Poll Dorset sheep.

Australian Veterinary JournalVolume 69, Issue 6 p. 146-147 Congenital hypotrichosis in Poll Dorset sheep JT MACKIE, JT MACKIE Department of Agriculture, Regional Veterinary Laboratory, PO Box 388, Benalla, Victoria 3672Search for more papers by this authorB McINTYRE, B McINTYRE Benalla Veterinary Clinic, 16 Church Street, Benalla, Victoria 3672Search for more papers by this author JT MACKIE, JT MACKIE Department of Agriculture, Regional Veterinary Laboratory, PO Box 388, Benalla, Victoria 3672Search for more papers by this authorB McINTYRE, B McINTYRE Benalla Veterinary Clinic, 16 Church Street, Benalla, Victoria 3672Search for more papers by this author First published: June 1992 https://doi.org/10.1111/j.1751-0813.1992.tb07490.xCitations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume69, Issue6June 1992Pages 146-147 RelatedInformation

Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome

We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.

Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle

Examination of 13 cattle with cross-related congenital hypotrichosis showed that the disease is characterized by a short, curly, dilute-color, malformed, sometimes sparse, hair coat that occasionally causes physical impairment of the affected animal. Because the disease is associated with crossbreeding programs utilizing certain breeds of cattle, it is hypothesized that the etiology may be due to color dilution mutants present in European breeds of cattle. Continued investigation may lead to a more complete understanding of this disease.

A genetic, pathological and virological study of congenital hypotrichosis and incisor anodontia in cattle.

Two Friesian cows, half-sibs by a common dam, produced four bull calves with severe congenital hypotrichosis and incisor anodontia and three normal heifers by six unrelated Holstein, Friesian, Devon and Hereford bulls. The two dams, and their dam, had coats of a short, stubbly nature and the pigmented areas appeared rusty grey rather than black. Pathological examination of skin samples taken from multiple standardised sites from two of the affected calves showed a reduction in the number of large first-formed hair follicles. Smaller calibre hair follicles were present but, unlike those of normal neonatal calves, all were in the telogen (inactive) phase. Although the herd was infected with bovine virus diarrhoea virus there was no convincing evidence that the virus was implicated in the pathogenesis of these cases of congenital hypotrichosis with incisor anodontia. The family breeding information on the few severely affected and normal progeny and mildly affected and normal parents may be explained by the genetic hypothesis of an X-linked incompletely dominant gene.

Further studies of congenital hypotrichosis in Hereford cattle.

SummaryHistopathological skin changes in 22 hypotrichotic Hereford calves revealed initial changes in the anagen phase of the hair cycle, characterized by trichohyalin granules in Huxley's layer. The catagen phase and not the telogen phase had trichohyalin granule remnants from the anagen phase and was negative for microdroplets and trichohyalin.ZusammenfassungWeitere Untersuchungen über die kongenitale Hypotrichosis bei Hereford‐RindernHistopathologische Untersuchungen an Hautveränderungen von 22 hypotrichen Hereford‐Kälbern ergaben initiale Veränderungen in der anagenen Phase des Haarzyklus. Charakteristisch waren Trichohyalingranula in der Huxleyschen Schicht. Überreste von Trichohyalingranula ließen sich noch in der catagenen Phase, nicht aber in der telogenen Phase, nachweisen. Die catagene Phase war negativ hinsichtlich Mikrotröpfchen von Trichohyalin.RésuméAutres recherches sur l'hypotrichose congénitale chez des bovins HerefordDes recherches histopathologiques sur des lésions de la peau de 22 veaux Herford souffrant d'hypotrichose ont montré des lésions initiales dans la phase anagène du cycle capillaire. Des granulations de trichohyaline dans la couche de Huxley furent caractéristiques. Des graces de granulations de trichohyaline ont été encore mises en évidence dans la phase catagène, mais pas dans la phase télogène. Il n'y a pas eu de microgouttelettes de trichohyaline dans la phase catagène.ResumenEstudios más amplios sobre la hipotricosis congénita en los vacunos HerefordCon los estudios histopatológicos efectuados en modificaciones cutáneas de 22 terneros hipotricóticos de la raza Hereford se mostraron lesiones iniciales en la fase anagena del ciclo capilar, caracterizadas por granulaciones de tricohialina en la capa de Huxley. Restos de granulaciones de tricohialina se pudieron poner aún en evidencia en la fase catagena, pero no en la fase telogena. La fase catagena era negativa con respecto a microgotitas de tricohialina.

Pathological Changes in Congenital Hypotrichosis in Hereford Cattle

SummaryExamination of 13 Hereford calves with hypotrichosis revealed histological changes in the skin comprising absent or degenerated hair shafts, hypoplastic hair follicles, and degenerative changes in the cells of Huxley's layer of the hair follicles. The changes in Huxley's layer seemed to arrest transformation of papillary cells into cells of the internal root sheaths.Ultrastructural changes in the hair follicle cells of 4 congentally Hereford calves are described. The changes seen were the presence of megalo‐trichohyalin droplets and the absence of the microfilaments usaually associated with trichohyalin droplets. It is suggested that trichohyalinformation in the medulla of the hair is deranged due to impaired conversion of ARG‐TRI to CIT‐TRI. The possibility of genetic involvement precipitating this condition seems likely.ZusammenfassungZur Pathologie der angeborenen Hypotrichose bei Hereford‐RindernBei 13 Hereford‐Kälbern mit einer Hypotrichosis wurden folgende histologische Veränderungen gefunden: Fehlen oder Degeneration des Haarschaftes, Hypoplasie der Haarfollikel, Zelldegeneration in der Huxleyschen Schicht der Haarfollikel. Die Veränderungen in der Lxeleyschen Schicht scheinen die Transformation der Papillarzellen in die Zellen der inneren Wurzelscheide gehemmt zu haben.Bei 4 Hereford‐Kälbern mit angeborener Hypotrichose werden die elektronenmikroskopischen Veränderungen beschrieben: Vorkommen von Megalotrichohyalin‐Tröpfchen, Fehlen der mit Trichohyalin‐Tröpfchen gekoppelten Mikrofilamente. Es wird angenommen, daß die Trichohyalinbildung im Haarmark infolge einer Hemmung der Umwandlung von Arginin‐Trichohyalin in Citrullin‐Trichohyalin gestört ist. Wahrscheinlich liegt diesem Phänomen eine genetische Störung zugrunde.RésuméPathologie de l'hypotrichose congénitale chez des bovins HerefordLes lésions histologiques suivantes ont été trouvées chez 13 veaux Hereford atteints d'hypotrichose: absence ou dégénérescence de la tige du poil, hypoplasie du follicule pileux, dégénérescence cellulaire de la couche de Huxley du follicule pileux. Les lésions dans la couche de Huxley semblent avoir inhibé la transformation des cellules papillaires en cellules de la gaine interne de la racine. On décrit les lésions au microscope électronique chez 4 veaux atteints d'une hypotrichose congénitale: apparition de gouttelettes de mégalotrichohyaline et absence des microfilaments couplés avec les gouttelettes de trichohyaline. On pense que la formation de trichohyaline dans la moelle du poil est dérangée par l'inhibition du passage d'arginine‐trichohyaline en citrulline‐trichohyaline. Ce phénomène est dû vraisemblablement à un trouble génétique.ResumenSobre la patologiá de la hipotricosis congénita en vacunos HerefordEn 13 terneros Hereford con una hipotricosis se hallaron las modificaciones histopatológicas siguientes: ausencia o degeneración del tallo del pelo, hipoplasia de los folículos pilosos, degeneración celular en la capa de Huxley de los folículos pilosos. Las modificaciones habidas en la capa de Huxley parecen haber inhibido la transformación de las células papilares en células de la vaina radicular interior.Se describen las modificaciones observadas con el microscopio electrónico en 4 terneros Hereford con hipotricosis congénita: prescencia de gotitas de megalotricohialina, ausencia de microfilamentos acoplados a las gotitas de tricohialina. Se supone que se halla desordenada la formación de tricohialina en la medula del pelo debido a la inhibición de la transformación de argininatricohialina en citrulina‐tricohialina. Parece verosímil la posibilidad de que esta condición se deba a una tara genética.

A case of dyscephalia with congenital cataract and hypotrichosis.

A case of dyscephalia with congenital cataract and hypotrichosis.

Congenital Hypotrichosis in a Child

Congenital Hypotrichosis in a Child