Cases reported "Ichthyosis"

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1/7. prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases.

    Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.
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2/7. Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase.

    Five patients in a large pedigree with autosomal dominant palmoplantar keratoderma and/or an ichthyosiform dermatosis were studied. Biopsies of the keratoderma, a remote hyperkeratotic plaque on an arm and the ichthyosis all revealed the same histopathologic changes including hyperkeratosis with round retained nuclei. All 5 patients had elevated serum beta-glucuronidase activity. The significance of beta-glucuronidase in this and other skin diseases is discussed.
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3/7. review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.

    Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oestrogen excretion and difficulties in delivery, first described only twelve years ago, has now become a generalized enzyme deficiency associated also with a common skin disease. It turns out not only to be inherited in an X-linked recessive manner, but to be part of a gene cluster which includes the Xg blood group gene and which has been precisely assigned to the distal tip of the short arm of the X-chromosome. This cluster is unique for genes on the X-chromosome in escaping X-inactivation. It remains to be unequivocally demonstrated whether steroid sulphatase is identical to arylsulphatase C or whether these are two enzymes sharing a common polypeptide chain determined by a single gene. However, Rose (1982) presents evidence that one steroid sulphatase is probably identical with arylsulphatase C. It also remains to be conclusively demonstrated whether the gene for the enzyme deficiency is also that for ichthyosis or whether they are two very closely linked genes. If the former is true the role of steroid sulphatase in the abnormal keratinization of ichthyosis is still to be elucidated. Above all the special nature of the dna in this unique region awaits description.
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4/7. sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.

    A large family is reported in which at least four males are, or have been, affected with an unusual form of mental retardation associated with short stature, obesity, hypogonadism and skin disease. Investigations in the proband indicate that the hypogonadism is primary rather than secondary, and that the skin involvement is ichthyosiform. The mode of inheritance is entirely consistent with sex-linkage.
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5/7. Case study: Harlequin fetus, a disease of cornification.

    The ichthyosis are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Harlequin fetus is the most rare and severe form of congenital ichthyosis. It is inherited in an autosomal recessive pattern. In this particular case study a Harlequin fetus, who is now an 8 year old child, is described from birth to present. His skin care is detailed for others to understand that the diseases of cornification can be managed successfully with meticulous and consistent care.
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6/7. Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology.

    We report a case of KID (keratitis, ichthyosis, and deafness) syndrome in which the patient died at the age of 2 months. Detailed histological study of the affected organs, particularly the inner ear and external auditory meatus, was performed. This case is the first in which previously described principles relating to the biology of the ear canal epithelium have been applied to a patient with skin disease affecting this area.
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7/7. keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?

    We report a 32-year-old man with an unusual combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre striate hyperkeratosis in the fixtures, but no systemic involvement. The condition, which improved on oral etretinate therapy, had not appeared previously in the family. On light microscopy the involved epidermis showed marked acanthosis with hypergranulosis and hyperkeratosis. Electron microscopy disclosed numerous large keratohyaline granules in superficial keratinocytes. The clinical picture and histology are virtually identical to those of a Spanish family suffering from an autosomally recessive skin disease of unknown etiology. We hypothesize that the condition is due to a genetic defect in the formation of keratohyaline granules.
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