ABSTRACT
We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.
Subject(s)
Abnormalities, Multiple/genetics , Cutis Laxa/congenital , Dandy-Walker Syndrome/genetics , Genes, Recessive , Bone and Bones/abnormalities , Cutis Laxa/genetics , Developmental Disabilities/genetics , Dystonia , Female , Heart Defects, Congenital , Hip Dislocation, Congenital , Humans , Infant, Newborn , Ligaments/physiopathologyABSTRACT
The various physiological effects of alpha-MSH, mainly on the CNS and on pigmentation in animal models, are well documented in the literature. Only a few investigators have confirmed similar properties in the human. However, the possible physiopathological role played by this hormone in human melanoma is still poorly defined. In order to approach this subject in a manner as complete as possible, we have performed, during the past four years, three different series of experiments: 1) alpha-MSH measurements in plasma samples from: a. melanoma and other cancer patients, b. whole body UVA irradiated healthy adults, c. circadian rhythm determinations in melanoma patients and in healthy male adults; 2) alpha-MSH measurements in human melanoma tumours; 3) alpha-MSH receptor expression on human melanoma cells in culture involving: a. alpha-MSH radio-binding assays and b. tyrosinase assay. Our results so far show 1) increased alpha-MSH levels in melanoma patients' plasma, alpha-MSH responsiveness to UVA stimulated skin, large immunoreactive alpha-MSH content in melanoma metastases and an alpha-MSH circadian rhythm in some individuals different from cortisol; 2) alpha-MSH receptor expression in melanoma cells could be increased by various effectors able to stimulate melanogenesis.
Subject(s)
Biomarkers/blood , alpha-MSH/blood , Aged , Biomarkers, Tumor/blood , Blood Specimen Collection , Cell Line , Circadian Rhythm , Female , Humans , Male , Melanoma/blood , Melanoma/pathology , Middle Aged , Monophenol Monooxygenase/analysis , Neoplasm Staging , Neoplasms/blood , Neoplasms/pathology , Radioimmunoassay/methods , Receptors, Pituitary Hormone/analysis , Reference Values , Skin/radiation effects , Ultraviolet RaysABSTRACT
The effect of a sunscreen containing a p-aminobenzoic acid (PABA) ester on ultraviolet-induced DNA injury was assessed on human epidermal cells by the measure of unscheduled DNA synthesis intensity. Our results show that DNA repair was reduced by approximately 50%. Therefore, sunscreens based on PABA esters might be expected to reduce photocarcinogenesis.
