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At least 1,081 records · Page 60Linked to original sources
PubMed1996

Brittle and sparse hair with normal cystine content caused by methionine deficiency?

The unusual case of an 8-year-old girl with a hair disorder is presented, characterized by brittle, short and sparse hair. On polarizing microscopy the latter reveals a "tiger tail" pattern, whereas severe cuticular defects are detected on scanning electron microscopy. The patient's hair has a normal cystine content but is completely devoid of methionine and reveals distinct changes of its visoelastic parameters. It is presently unknown whether the lack of methionine may be implicated in the pathogenesis of this hair disorder, which to the best of our knowledge has not been previously described.

Child↗
PubMed1991

A variant of the syndrome of spinal arachnoid cysts with multiple congenital defects.

We report an apparently unique case of multiple spinal intradural arachnoid cysts in association with distichiasis, late onset lower limb lymphoedema, and previously unrecognized features of associated bilateral megaureters, Arnold Chiari malformation with hydrocephalus and syringomyelia. The literature on this unusual group of congenital malformations is reviewed.

Abnormalities, Multiple↗
PubMed1997

Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies.

Five cases from two unrelated families with a hitherto unknown combination of dyshidrotic ectodermal dysplasia with corneal vessel ingrowth, limbal hair follicles with hairs, and Bitôt-like spots in the conjunctiva are described. The corneal lesions were slowly progressive. In one pedigree, autosomal recessive inheritance is most likely, in the other there is uncertainty about the mode of inheritance. According to the criteria of Pinheiro and Freire-Maya, the mentioned cases can be classified into subgroup 1-2-4. The cases under investigation showed no palisades of Vogt like those seen in aniridia and after radiation therapy. We also found an absence of goblet cells in the affected individuals. We suggest therefore that the corneal and conjunctival anomalies are possibly caused by a stem cell disorder.

Adult↗
PubMed2001

Refractive changes of congenital entropion and epiblepharon on surgical correction.

In order to investigate the refractive error, amblyopic frequency, and refractive change, if any, following recovery of cornea injury through surgery of epiblepharon and congenital entropion patients, we retrospectively reviewed the sex distribution, age at operation, chief complaints, preoperative and postoperative refractive errors, and best corrected visual acuity in 160 previously operated patients. The average age at operation was 7.9 years. The preoperative best corrected visual acuity of 133 eyes (41.6%) was below 5/9. Ninety-five eyes (29.7%) were preoperative myopes above -1.0D; 77 eyes (24%) were hyperopes above +1.0D; and 163 eyes were astigmatic above -1.0D. Of 228 eyes that were followed up for more than one year, 66 eyes demonstrated a best corrected visual acuity of below 5/9. There was no significant difference in the change in corneal astigmatism following surgery between the group under the age of 7 and the group over the age of 7. However, the mean best corrected visual acuity at postoperative one year was 6/9, which was significantly different from the preoperative value (P=0.006). Concurrent postoperative glasses correction and amblyopic therapy is indicated because the incidence of refractive errors and amblyopia is higher in epiblepharon and congenital entropion.

Adolescent↗
PubMedDate not supplied

Pediculosis ciliaris.

Pediculosis ciliaris, though not as common as in the past, is still not a rare disorder. Infestation has become more prevalent among adolescents within the past few years. Severe itching, irritation, secondary conjunctivitis, and preauricular adenopathy may accompany the louse infestation. A brief review of the etiology and treatment of pediculosis ciliaris has been presented. Every physician should be aware of this disorder and be adequately prepared to treat it.

Adolescent↗