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PubMed1975

Amelioration by copper supplementation of mutant gene effects in the crinkled mouse.

The possibility of a relationship between the autosomal recessive mutant gene crinkled in mice and copper metabolism was investigated by examining the effect of copper supplementation during pregnancy and lactation on the expression of the gene in homozygous mutant young. Survival of mutant mice to 30 days of age was doubled by feeding their mothers a high copper diet (500 ppm copper) during pregnancy and lactation, as compared with controls (6-11 ppm dietary copper). High dietary copper also prevented the lag in pigment development characteristic of the mutants. Furthermore, skin and epidermal thickness and hair bulb development were nearly normal in the high copper group, in contrast to thin skin and paucity of hairs in controls. Supplementation with manganese did not have these effects. Scanning electron micrographs showed the presence of three types of hair abnormalities in crinkled mutants, monilethrix, pili torti, and possibly trichorrhexis nodosa. The results show that increased availability of copper favorably altered the expression of the mutant gene, and demonstrate the interaction of a gene and a trace metal in development.

Animals↗
PubMed1987

Menkes disease--an autopsy case with metal analysis of hair.

We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many Purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.

Angiography↗
PubMed1978

[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)].

The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. It can be asserted with the very low copper and cerulo-plasmin blood levels. Recognition of the disease in utero might be possible. New findings in skin' electron microscopy and hair' scanning electron microscopy are reported here. And two RX scanner of the brain have been performed.

Brain Diseases, Metabolic↗
PubMed1982

SEM analysis of body hairs and whiskers of heterozygous tortoiseshell (Moto/+) female mice (Mus musculus).

Back hairs of +/+ and Moto/+ female Mus musculus generally exhibited identical form when examined by SEM. However, the hair shafts of Moto/+ female mice were beaded in appearance (monilethrix), twisted (pili torti) or exhibited a rough nodular appearance. Also, some hairs of Moto/+ female mice which were devoid of pigment appeared enlarged and bitubular. The whiskers of +/+ and Moto/+ female mice were identical in form. The hair abnormalities of Moto/+ female mice resulted from a copper deficiency and were similar to those hair anomalies observed in other mottled mice and in copper-deficient crinkled mice.

Animals↗
PubMed1981

Menkes' syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification.

Three new cases of Menkes' kinky-hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron-microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half-sister.

Brain Diseases, Metabolic↗
PubMed1994

[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].

Oculo-dento-digital syndrome (SODD) as defined by Meyer-Schwickerath in 1957 is a rare entity (84 cases) which belongs to ectodermal dysplasias. It consists of: the characteristic features (long face, pinched nose); syndactyly; ocular, dental and bone abnormalities. This entity is usually transmitted on the autosomal dominant mode. We report two cases (a mother and daughter) with polymalformations which we classed as SODD. Furthermore, agenesis of lacrimal duct and genitourinary abnormalities were noted. The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. In SODD, fine and sparse hair is often observed (44 p. 100). Only one patient had hair shaft investigation under polarized light: pili annulati and monilethrix were described but not found in our cases. These two reports incite to the systematic hair shaft study in SODD as other ectodermal dysplasia syndromes.

Abnormalities, Multiple↗
PubMed1997

[Neurocutaneous syndrome with hair alterations].

There are multiple neurocutaneous syndromes that may show hair alterations such as the interglabellar peak or 'widow's peak', which is an alteration of the hair implantation, in addition to the genohypotrichosis, hypertrichosis and hair shaft dysplasias. In this chapter we will focus on the latter. Out of the unspecific hair shaft dysplasias the only ones showing neurological alterations are trichorrhexis invaginata, observed in the syndrome of Netherton. Among the specific dysplasias we would like to point out monilethrix, and very especially the moniliform hair syndrome, the trichorrhexis nodosa, the pili torti and trichotiodystrophy. The latter is actually a group of syndromes which associates a series of diverse symptoms that have in common hair brittleness, fertility problems and physical and mental retardation, and they constitute the basic syndrome know as 'BIDS syndrome.

Deafness↗