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PubMed1992

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.

Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulphur content, and mental and physical retardation. Numerous additional clinical features may be present, producing a very heterogeneous syndrome. Many cases exhibit ichthyosis and photosensitivity. Cells from photosensitive TTD patients show reduced DNA repair levels similar to those found in xeroderma pigmentosum. TTD patients have a short life expectancy, and no treatment is known or envisaged. We report the prenatal diagnosis of TTD in two French families, based on DNA repair measurements in trophoblasts or amniotic cells, with later confirmation by microscopic analysis of the fetal hairs. Although the DNA repair defect was less marked in the fetal cells when compared with fibroblasts from the index case, measurement of DNA repair by unscheduled DNA synthesis provided unambiguous evidence of defective DNA repair in the fetal cells. This method is therefore a suitable prenatal diagnostic test for those TTD families in which a DNA repair defect has been identified.

Adult↗
PubMed2006

[Histopathology of photodermatoses].

Photodermatoses are skin disorders which result from abnormal response to ultraviolet (UV) radiation. Photodermatoses include the following disorders: polymorphic light eruption, hydroa vacciniforme, solar urticaria, actinic prurigo, acute actinic dermatosis, solar dermatosis, phototoxic dermatitis and photoallergic dermatitis. The histopathology of these disorders will be presented and its role in making the diagnosis will be discussed.

Diagnosis, Differential↗
PubMedDate not supplied

Variegate porphyria: past, present and future.

Variegate porphyria, one of the acute hepatic porphyrias, is characterized by a partial reduction in protoporphyrinogen oxidase, the seventh enzyme of the heme biosynthetic pathway. For a long time, this disease has caused confusion among the porphyrias because it presents with clinical symptoms and biochemical findings that can be similar to those found in other types of porphyrias. Here, we provide an overview of historical, clinical, biochemical, genetical, and other aspects of variegate porphyria that might be helpful in providing more insight into this rare disorder.

Flavoproteins↗
PubMed1964

DRUG ERUPTIONS.

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Antipyrine↗
PubMed1983

Cutaneous complications of chemotherapeutic agents.

Increasing numbers of chemotherapeutic agents are being used to treat patients with cancer and various immunologically mediated and inflammatory disorders. Many of the drugs used have distinctive cutaneous side effects that range from relatively common ones, such as alopecia, stomatitis, and hyperpigmentation, to more unusual ones, such as radiation enhancement and recall phenomena, photosensitivity and hypersensitivity reactions, and phlebitis or chemical cellulitis. In addition, there are some rare complications such as diffuse sclerosis of the hands and feet, Raynaud's phenomenon, sterile folliculitis, and flushing reactions. By being aware of which drug may have caused a particular cutaneous reaction, dermatologists will be able to contribute to the care of patients with complex problems in a meaningful way.

Alkylating Agents↗