Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Hair Diseases”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMedDate not supplied

Catecholamine metabolism in kinky hair disease.

Kinky hair disease is a progressive neurologic disease associated with decreased copper absorption. Because dopamine-beta-hydroxylase, an essential enzyme in norepinephrine biosynthesis, is copper-dependent, we studied norepinephrine metabolism in vivo in 5 affected children. Patients with kinky hair disease had decreased plasma norepinephrine concentrations (196 +/- 25 pg/ml) in comparison to control patients (325 +/- 20 pg/ml, p less than 0.001). The ratio of total urinary norepinephrine metabolites to total dopamine metabolites was 0.25 +/- 0.04 in kinky hair patients and 0.52 +/- 0.03 in controls p less than 0.001). These data indicate that dopamine-beta-hydroxylation in vivo is decreased in patients with kinky hair disease; however, there was no correlation between serum copper concentration and catecholamine abnormality.

Adolescent↗
PubMed1986

Catecholamine metabolism in steely hair disease.

Steely hair disease, a neurodegenerative disorder, is characterized by slow growth, progressive cerebral dysfunction, kinky friable hair, x-linked inheritance, and death before three years of age. Low-serum copper has been found to play a role in steely hair disease. This article describes the role of copper, the pathophysiology of this disease, and current treatment and research. A case history and pertinent aspects of nursing care of these patients are also presented.

Brain Diseases, Metabolic↗
PubMed1988

Atypical Menkes steely hair disease.

Menkes steely hair disease (MSHD) is a rare disorder which typically results in severe mental retardation and death in early childhood. A 21-month-old boy with an atypical milder form was presented by Procopis et al. [1981]. A second child with the atypical form is presented here who has survived to age 9 years and is doing well clinically.

Brain Diseases, Metabolic↗
PubMed1994

Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease.

Menkes kinky hair disease (MKHD) in humans is caused by a disturbance in copper homeostasis. A mutant mouse shows clinical and biochemical features very close to MKHD. In an attempt to elucidate the defect in copper transport, the copper distribution in various organs of 18-gestational-day-old macular mouse embryos, following administration by a single injection of saline (control) or 50 micrograms of CuCl2 on day 16 of gestation or by two injections on days 15 and 17 of gestation to the dams, was examined both biochemically and histochemically. The copper content in the hemizygous fetus (Ml/y) born to the homozygous mother, who had no copper injection during gestation, was lower in the brain and liver but higher in the placenta than in the respective organs of the normal fetus. When 50 micrograms of CuCl2 was injected into heterozygous dams (Ml/+) on day 16 of gestation, their hemizygous fetuses showed a slight increase in the copper content in the brain and liver, but the amount of copper in these organs was still less than that of the normal fetus. Conversely, the copper content in the placenta of the hemizygous fetus was far higher than that of the normal fetus. In the copper staining of the fetuses harvested from heterozygous dams, some fetuses showed copper deposition in the placenta, but not in the liver. The others showed no copper deposit in both the placenta and liver, thus indicating that the former were hemizygous for the mutation and the latter were normal littermates.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1986

Cerebral lipid and protein abnormalities in Menkes' steely-hair disease.

Menkes' steely-hair disease is characterized by abnormal copper metabolism accompanying progressive cerebral degeneration. Cerebral lipids and proteins of an infantile male patient with Menkes' disease were analyzed. The major lipid components in myelin, which included free cholesterol, phospholipids, galactosylceramide, sulfatide, and GM4 ganglioside were markedly decreased, indicating that the myelin was severely damaged by the defective copper metabolism. The degeneration of the myelin was also indicated by decrease in myelin basic protein and proteolipid protein, whereas gliosis in the white matter was biochemically confirmed by prominent increase in glial fibrillary acidic protein. Fatty acid analyses of phospholipids in the white matter revealed that the unsaturated fatty acids were severely decreased in phosphatidylethanolamine, phosphatidylcholine, and phosphatidylserine, and that the long chain fatty acids were also decreased in sphingomyelin. As both the desaturation of fatty acids in glycerophospholipids and the elongation of fatty acids in sphingomyelin are in general thought as markers for myelination, the results suggest that the progressive cerebral degeneration in the disease is due to dysmyelination rather than demyelination. The dysmyelination seemed to be supported by the fact that cholesterol ester which is thought as a marker for demyelination, showed no increase in the brain.

Brain↗
PubMed1982

Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilson's disease.

Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase activities. Cytochrome oxidase activity, however, was greatly reduced in some cells and almost normal in others. Cultured fibroblasts from patients with Wilson's disease showed moderately reduced succinate dehydrogenase and cytochrome oxidase activities. Amine oxidase activity was only slightly reduced when compared to that of normal. These results indicated that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilson's disease were distinctly different from each other and from normal fibroblasts.

Amine Oxidase (Copper-Containing)↗
PubMed2001

[Hairdex: a tool for evaluation of disease-specific quality of life in patients with hair diseases].

Because of a strong reduction of life quality in patients with hair loss, a special questionnaire was developed following the general Skindex questionnaire for dermatoses. The Hairdex was evaluated in 75 female hair patients. The aim of the study was to prove the questionnaire's statistical values, reliability, validity, general acceptance and accuracy. The clinical manifestation of hair loss was categorized as "not visible", slightly visible" and "obviously visible". The hair loss lead to great differences in the life quality of both the patients with obvious hair loss and in patients with non-visible hair loss, especially in the categories "emotions", "self-confidence" and "stigmatization". The convergent and discriminant validity of the questionnaire was satisfactory. The acceptance of the questionnaire was very good with 90%. The hairdex-questionnaire represents a reliable and patient-oriented instrument for evaluation of life quality in hair diseases. The reliability of the questionnaire concerning longitudinal therapeutic effects will need to be investigated in further studies.

Adult↗
PubMed1978

An autopsy case of Menkes kinky hair disease.

An autopsy cases of Menkes kinky hair disease in a 1 year and 8 months old male infant is presented and compared with the morphological findings of the previous literatures. The main pathological changes are atrophy of the whole cerebellar cortex and bilateral temporal lobe, atrophy with demyelination of the white matter, tortuous running of the cerebral arteries, multiple diverticulosis of the urinary bladder and hyaline-like deposition in the gastric submucosa. Microscopically, the peculiar degenerative change of Purkinje cell (somal sprout) is the only characteristic lesion in our case and the others. It is suggested that Menkes kinky hair disease may be a syndrome due to metabolic disturbance appearing not only in ectoderm such as the central nervous system, but also in mesoderm such as connective tissue and bone.

Atrophy↗
PubMed1994

[Menkes' kinky hair disease: a clinical and pathological case report with special reference to glial changes in the brain damage].

Menkes' kinky hair disease (Kinky hair disease, trichopoliodystrophy) is a rare hereditary disease of copper metabolism. In this study we report about the case of a boy with a long course of disease who died at the age of 6. The last phase of the disease was characterized by an almost uncontrollable excitation stage and later by an apallic syndrome. Clinical course and autopsy result are presented here. The protracted course obviously led to unusual neuropathological changes. In addition to the known neuronal damages an excessive reactive gliosis could be found. The unusual neuropathological course of this gliosis perhaps allows the conclusion that apart from neuronal damages disturbances of copper metabolism have an influence on the glia.

Brain↗
PubMed1988

Kinky hair disease: twenty five years later.

Kinky hair disease, first described in 1962, is a sex-linked disorder, with its gene located on the long arm of the X chromosome close to the centromere. The condition is marked by intellectural deterioration, seizures, and poorly pigmented, friable hair. Bony changes, resembling scurvy, tortuosities of the cerebral and systemic vasculature, and diverticuli of the bladder are also seen. Biochemically, the most diagnostic alteration is a marked reduction in blood copper and ceruloplasmin levels. The mechanism for the low serum copper has not been defined. Even though parental copper administration will correct the biochemical abnormalities, such treatment will not arrest cerebral deterioration.

Brain↗
PubMedDate not supplied

Correction of cerebrospinal fluid copper in Menkes kinky hair disease.

A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.

Blood Transfusion↗
PubMed1991

[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder].

Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. Recently it has been known that this disease is also characterized by multiple diverticula of the bladder and other urological abnormalities. A 6-year-old boy was diagnosed as having Menkes' kinky hair disease at another hospital several weeks after birth because of seizures, friable hair and low serum copper level. He voided by Credé's maneuver by the nurse because he could not void for himself. He was referred to our hospital for macrohematuria and micturition pain on October 8, 1989. Right renal staghorn calculus and multiple diverticula of the bladder were found by roentgenographic examination. He has been treated conservatively after discharge because of his poor condition.

Child↗
PubMed2004

[Psychological consequences of chronic hair diseases].

The author is looking to the psychological consequences of chronic hair diseases through a review of the recent literature. In general those consequences are depending on the coping skills and on the personality traits. The effect of hair loss on the quality of life is similar to that of a severe psoriasis. The most important effect is a loss of self-confidence. This is enhanced by an insecure or ambivalent attachment pattern. The coping skills will therefore be different and less flexibles. Two psychiatric syndromes are first mentioned: the body dysmorphic syndrome (very slight or imaginary defect in appearance) and trichotillomania. Androgenetic alopecia leads to an important suffering in women mostly. Alopecia induced by cancer chemotherapy has been reported to cause changes in self-concept and body image. This does not return to the previous state after regrowth of hair for a majority of patients. A cosmeto-oncologic care strategy is developed in our department to improve the quality of life of the patients during this difficult coping period. Alopecia areata has an important psychiatric comorbidity: mostly anxiety and depression. Old stressful life events are frequently reported at the onset of the disease revealing a chronic stress. Those patients have difficulties to express their feelings (what is called alexithymia). With a systemic vision this is interpreted as an unconscious task of avoiding family conflicts. This conflicts are raising the anxiety of family splitting coming from early loss or death in the previous generations. A cautious family therapy helps to change those unconscious myths.

Alopecia↗
PubMed2002

[Hair diseases in childhood].

This paper focuses on four important hair diseases mainly occurring in children. Trichotillomania is the most relevant differential diagnosis of alopecia areata in childhood. Meticulous inspection and lack of telogen hairs in the trichogram from the margin of the lesion usually are sufficient for differentiation. The trichogram also plays a significant role for the diagnosis of the loose anagen hair (loose anagen syndrome), a fairly new, but not rare entity, especially in distinguishing it from telogen effluvium. Five different types of clinical presentation are distinguished in tinea capitis. For the necessary systemic therapy; the new antimycotics terbinafine and itraconazole represent good alternatives to the well-tried griseofulvin. Several effective therapeutic options are also available for head lice, the most frequent parasitary infestation of school age. However, because of its neurotoxicity and the increasing problem of lice resistance lindane should not be used any longer for the treatment of head lice.

Adolescent↗