1/43. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.- - - - - - - - - - ranking = 1keywords = hair (Clic here for more details about this article) |
2/43. Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and gamma-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome.- - - - - - - - - - ranking = 5keywords = hair (Clic here for more details about this article) |
3/43. menkes kinky hair syndrome: Is it a treatable disorder?A male infant with menkes kinky hair syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.- - - - - - - - - - ranking = 4keywords = hair (Clic here for more details about this article) |
4/43. Serial imaging of Menkes disease.The patient developed myoclonic seizures at 3 months of age and his hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis of Menkes disease. The characteristic signs on the images were: high echo level regions in the cerebrum as detected by brain ultrasonography, low density areas of white matter detected by CT scan, and low signal intensities of white matter by both T1 and balanced MR images.- - - - - - - - - - ranking = 1keywords = hair (Clic here for more details about this article) |
5/43. Woolly hair nevus.Woolly hair nevus is a rare, nongenetically determined condition in which unruly and tightly curled hair is localized on one or several areas of the scalp. We report the first case of woolly hair nevus with onset during adolescence. Marked improvement was evident 5 years after onset. light microscopic examination of a biopsy specimen from the scalp showed a curved hair follicle. Scanning electron microscopic examination revealed slight fluting and marked flattening of the hair shafts. A discussion of these results and a comparison with those of the previously reported cases suggest that woolly hair nevus correlates with a variety of structural changes in the hair.- - - - - - - - - - ranking = 11keywords = hair (Clic here for more details about this article) |
6/43. Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency.A male infant with an atypical form of Menkes kinky hair disease showed mitochondrial NADH-CoQ reductase (complex I) deficiency in a femoris muscle biopsy. His clinical features consisted of hypotonicity of the upper limbs, hyper-reflexia of the lower extremities, abnormal hair and fine myoclonic movement of the hands. The serum levels of copper and ceruloplasmin were just below normal range, and the copper concentration in fibroblastic cells was much increased (101.2 ng/mg of protein). The occurrence of this case suggests that there may be a mild form of Menkes disease with a NADH-CoQ reductase deficiency or other mitochondrial enzyme defects.- - - - - - - - - - ranking = 70228.949975051keywords = hair disease, hair (Clic here for more details about this article) |
7/43. biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.An unusual clinical course of a patient with biotinidase deficiency, causing Leigh syndrome, is reported. Laryngeal stridor was the major presenting symptom followed by progressive neurologic deterioration and death at the age of 21.5 mo. Absence of skin and hair abnormalities as well as of organic aciduria delayed the correct diagnosis. Necropsy revealed subacute necrotizing encephalopathy (Leigh syndrome). Carboxylase activities (propionyl CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase) measured in lymphocytes 1 day before death were decreased to 10% of normal values. Propionyl-CoA carboxylase was shown to be the only stable carboxylase in human postmortem tissue; in our patient it was moderately decreased in postmortem liver (29% of control) and kidney (42%), but severely decreased in brain (3%). These findings might explain the severity of neurological symptoms in the absence of marked organic aciduria. They indicate that in biotinidase deficiency the CNS may become biotin depleted earlier and more severely than other organs. biotinidase deficiency should be included in the differential diagnosis of Leigh syndrome and of unexplained respiratory problems.- - - - - - - - - - ranking = 1keywords = hair (Clic here for more details about this article) |
8/43. Decreased blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus in a case with Menkes kinky hair disease.Cerebral blood flow and oxygen metabolism were measured in a five-year-old boy with atypical Menkes kinky hair disease (MKHD) by using positron emission tomography (PET). The patient was diagnosed as having atypical MKHD because of low serum and urinary copper levels, and clinical symptoms. The CT revealed mild to moderate degrees of brain atrophy predominantly in the cerebellum. The PET demonstrated marked decreases of cerebral blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus. These findings seem to reflect the neuropathological abnormalities observed in MKHD. PET seems to be more sensitive than CT in detecting abnormalities in the affected structures. However, because this case is atypical the question of whether typical cases show similar features on the PET remains.- - - - - - - - - - ranking = 70227.949975051keywords = hair disease, hair (Clic here for more details about this article) |
9/43. Acquired progressive kinking of the hair.The clinical findings in three new cases of acquired progressive kinking of the hair, all in females, are reported, and a review of all previously reported cases is presented. Acquired progressive kinking of the hair is an acquired disorder of hair formation in which patches of hair become tightly curled and resemble pubic hair. It seems to be more common in males and is associated with darkening of the involved hair in about two thirds of the patients. The differential diagnosis includes inherited forms of kinky hair and kinky hair secondary to mechanical, chemical, or traumatic manipulation. Drugs are infrequently implicated in its causation.- - - - - - - - - - ranking = 12keywords = hair (Clic here for more details about this article) |
10/43. Acquired progressive kinking of the hair.A 14-year-old girl had acquired progressive kinking of the hair. light microscopy disclosed flattening of the hair shafts with partial twists at irregular intervals. Cross-sections of paraffin-embedded hairs were elliptic or irregular in configuration. Scanning electron microscopy confirmed the presence of partial twists and demonstrated canalicular grooves that extended for variable lengths along the hair shafts. Acquired progressive kinking of the hair most resembles woolly hair in appearance and structural abnormalities.- - - - - - - - - - ranking = 10keywords = hair (Clic here for more details about this article) |
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