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At least 253 records · Page 14Linked to original sources
PubMed2000

Pemphigoid gestationis: a review.

Pemphigoid gestationis is a rare autoimmune vesiculobullous skin disease closely related to the pemphigoid group of blistering disorders. It is unique in that it is most frequently associated with pregnancy. Diagnosis is made on the basis of the presence of a subepidermal vesicle on routine histologic examination and of linear deposition of the third component of complement along the basement membrane zone of perilesional skin. Abnormal expression of major histocompatibility complex class II molecules in the placenta may trigger the initiating immunologic event in this organ, which is followed by cross-reactivity with an antigen present in the skin and the characteristic cutaneous signs of the disease. The immunogenetics of this disorder are interesting. A role for the involvement of major histocompatibility complex class II antigens seems likely because of the association with human leukocyte antigens DR3 and DR4. Major histocompatibility complex class III associations have also been observed, as has a high frequency of anti-human leukocyte antigen antibodies. We review the current understanding of the molecular biologic and immunogenetic properties of this disease and discuss treatment and potential impact on the fetus.

Diagnosis, Differential↗
PubMed1989

The small midline occipital encephalomeningocele: definition of a syndrome.

An unusual group of encephalomeningoceles is described. Two children were noted at birth to have a raised area of abnormal skin at the occipital midline. Both of these lesions were found to perforate the superior sagittal sinus and to end between the leaves of the falx cerebri, and to contain a small amount of abnormal cerebral tissue with no connection to either occipital lobe. Previous case reports are reviewed; these lesions are true encephalomeningoceles, rather than glial heterotopias. The embryology of such lesions is considered, and likely differs from the much more common occipital encephalocele arising from one or both occipital lobes.

Brain Diseases↗
PubMed1984

[Nutrition and skin diseases in the horse].

Skin diseases of the horse can be produced or enhanced through nutrient deficiency, intestinal formation of detrimental substances, photosensitizing compounds and by intake of allergenes. An exact case history regarding feeding is useful for evaluation of every skin abnormality.

Amino Acids, Essential↗
PubMed1990

[Pathogenesis and clinical aspects of atopic dermatitis].

Atopic dermatitis (a. D.) is a chronically relapsing inflammatory disease of the skin caused by a genetically transmitted hypersensitivity to environmental substances. Its pathogenesis is complex and multifactorial: heredity of atopic constitution, disturbances of humoral (hyperimmunoglobulinemia-E) and cellular (defect of suppressor-T-cells) immunity, abnormal vascular reactions and abnormal skin functions. A. D. shows different forms in different age groups: Eczema infantum in infancy, Eczema flexurarum in childhood and Neurodermatitis disseminata and pruriginosa while and after puberty. Typically for all forms is a pruritus and the status neurodermiticus. The healing of a. D. is spontaneously possible at any time, but not predictable for a special case.

Antibody Formation↗
PubMed1997

[Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings].

INTRODUCTION: Hipomelanosis of Ito (HI) also called Incontinentia pigmenti achromians, is the third most frequent neurocutaneous disorder. The abnormal skin lesions are more evident under Wood's lamp and consist of hypopigmented areas with irregular borders, streaks, whorls or patches which are usually distributed on the trunk or on the limbs. Non-cutaneous abnormalities, particularly of the central nervous system, eye, teeth and skeleton, have been reported in 76-94% of patients. CLINICAL CASES AND CONCLUSIONS: In the present paper, we report two cases of Hipomelanosis of Ito in two female girls with facial coarse features. In the first case the psychomotor development was normal. Segmental dilatation of the colon, precocious pubarchy, abnormal periventricular white matter hipersignal on MRI and nodular mass on left caudate nuclei were also present. In the second case a severe developmental delay and autistic behaviour were the prominent features. To our knowledge, findings described in case 1 were not previously reported in association with HI.

Autistic Disorder↗
PubMed2003

Fertility in a female with mosaic trisomy 8.

OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism. DESIGN: Case report. SETTING: University department. PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX,+8[17]/46,XX[83]. INTERVENTION(S): Cytogenetic analysis and genetics evaluation of the proband and her child. MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient. RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. Cytogenetic analysis of the child showed a 46,XX karyotype. CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.

Adult↗
PubMed1998

Iris color, skin sun sensitivity, and age-related maculopathy. The Blue Mountains Eye Study.

OBJECTIVE: The purpose of the study was to assess relationships between age-related maculopathy (ARM) and iris color, skin sun sensitivity, and other sunlight-related factors. DESIGN: Cross-sectional population-based study. PARTICIPANTS: The Blue Mountains Eye Study performed a detailed eye examination of 3654 residents living in the Blue Mountains area, west of Sydney, Australia. MAIN OUTCOME MEASURES: Subjects with late age-related macular degeneration (late AMD), early ARM, and large drusen (> or = 125 microns diameter) were identified using masked grading of retinal photographs. Iris color was graded using standard photographs, and interviewers collected questionnaire data on sunlight-related factors. Logistic regression, adjusting for age, sex, AMD family history, and current smoking, was used to assess associations. RESULTS: Blue iris color was significantly associated with an increased risk of both late AMD (odds ratio [OR], 1.69) and early ARM (OR, 1.45). An increased risk of late AMD, but not early ARM, was associated with both high (OR, 2.54) and low (OR, 2.18) skin sun sensitivity, as assessed using the Fitzpatrick sun-sensitivity scale. These associations remained after adjusting for the presence of sun-related skin damage. Neither history (or treatment) of skin cancer lesions, signs of sun-induced skin damage, or number of severe sunburns was associated with either late AMD or early ARM. CONCLUSIONS: Blue iris color was associated with an increased risk of both late AMD and early ARM in this population. Abnormal skin sensitivity to sunlight was also associated with an increased risk of late AMD.

Cross-Sectional Studies↗
PubMedDate not supplied

Sensory afferent projections and area 3b somatotopy following median nerve cut and repair in macaque monkeys.

The fidelity of median nerve regeneration and the consequent effects of regeneration errors on cortical organization were determined in combined anatomical and electrophysiological studies. In three adult macaque monkeys, the median nerve was cut, sutured, and allowed to regenerate for 7-13 months. After regeneration, distributions of afferents to the dorsal horn of the spinal cord and the cuneate nucleus of the brainstem were determined by making injections of horseradish peroxidase conjugates into the distal phalanges of digit 1 or 2. While label from a single digit on the normal hand was confined to the appropriate locations in the median nerve territories of the dorsal horn and cuneate nucleus, label from the reinnervated digits spread out to cover most of the median nerve territories in those structures. These results are consistent with the interpretation that some proportion of primary sensory fibers normally innervating other digits and pads of median nerve skin erroneously reinnervated the skin of the injected digits. In the same monkeys, microelectrodes were used to record from an array of closely spaced sites across the representation of the hand in area 3b of somatosensory cortex. The reactivation pattern was abnormal, with neurons at many recording sites having more than one receptive field, larger than normal receptive fields, or receptive fields at abnormal skin locations. Thus, there is somatotopic disorder both in the regenerated median nerve and in reactivated cortex, indicating that primary somatosensory cortex does not reorganize to compensate fully for peripheral reinnervation errors in these adult primates. Nevertheless, the organization of receptive fields in area 3b suggests the existence of some central selection of synapses.

Animals↗
PubMed1984

Follicular ichthyosis.

We describe four patients with congenital follicular hyperkeratosis, of whom three also had pseudoacanthosis nigricans and two had facial abnormalities. Skin specimens were studied by light microscopy, autoradiography, histochemistry and scanning electron microscopy, and the results were compared with those from patients with keratosis pilaris. The condition appears to constitute a distinctive form of ichthyosis in which the abnormal epidermal differentiation occurs mainly within the hair follicles.

Adolescent↗
PubMedDate not supplied

Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.

Two patients with mosaicism for tetrasomy 12p are described. One was diagnosed at the age of 14 years with severe mental retardation and other dysmorphologic findings and abnormal skin pigmentation. Chromosome analysis of a blood sample showed a normal female karyotype. A skin biopsy specimen showed mosaicism for a marker chromosome. The other patient was diagnosed prenatally, from a chorionic villus sample, but only in the direct preparation. Mosaicism for a marker chromosome was demonstrated. The ultrasound examination revealed no abnormalities. Multicolor and multiband fluorescence in situ hybridization analyses showed that the marker chromosome was derived from chromosome 12p, which confirmed the diagnosis of Pallister-Killian syndrome in both patients. To our knowledge, this is the first report of the use of these fluorescence in situ hybridization techniques in Pallister-Killian syndrome whereby the nature of the marker chromosome could be confirmed to be derived from chromosome 12p.

Adolescent↗
PubMed2003

Tretinoin reverses upregulation of matrix metalloproteinase-13 in human keloid-derived fibroblasts.

Keloids are skin abnormalities that are characterized by excessive deposition of collagen bundles in the dermis. Patients with keloids complain not only about their cosmetic appearance, but also about continuous itching and/or tenderness associated with chronic inflammation. Degradation of extracellular matrix (ECM) may be upregulated, associated with the expansion of keloids into circumferential skin, and high metabolic activity of keloid tissues may be due to increased matrix metalloproteinase (MMP) activity. Based on these hypotheses, we examined differences in expression of MMP-1, MMP-8, and MMP-13 between keloid-derived and normal dermal fibroblasts. Since retinoids are potent inhibitors of MMPs in the treatment of photoaged skin and cancers, we also examined whether or not tretinoin affects MMP expression of keloid-derived fibroblasts. The results of real-time polymerase chain reaction and ELISA demonstrated significant upregulation of MMP-13 and significant downregulation of MMP-1 and MMP-8 in keloid-derived fibroblasts, at both mRNA and protein levels. MMP-1 mRNA expression in the control group was significantly upregulated after the addition of tretinoin, whereas no significant change was observed in the keloid group. MMP-8 mRNA expression in the control group was significantly upregulated by tretinoin, with the peak at 12 h, while no significant change was observed in the keloid-derived fibroblasts. In contrast, the remarkably elevated MMP-13 mRNA expression in the keloid group was significantly suppressed, with the peak suppression at 12 h after addition of tretinoin, while MMP-13 mRNA expression in the control group was not significantly changed. The decrease in MMP-1 and MMP-8 may contribute to accumulation of type I and type III collagen in keloid tissues, and this mechanism may be modulated by molecular interaction with MMP-13. Tretinoin appeared to reverse the abnormal expression profile of MMPs in keloid-derived fibroblasts, such as markedly elevated expression of MMP-13, partly through inactivation of AP-1 pathway. The present results suggest that tretinoin may be clinically useful to improve the chronic inflammation seen in keloids and prevent expansion of keloid tissues into circumferential normal skin.

Adult↗
PubMed2002

Inherited disorders of cholesterol biosynthesis.

For many decades, cholesterol has been considered an important structural component of cellular membranes and myelin, and a precursor of steroid hormones and bile acids. Moreover, the recognition that high cholesterol levels (hypercholesterolemia) are a major risk factor for the development of heart disease and atherosclerosis has gained enormous attention not only in medicine, medical and pharmacological research, but also from the general public. The discovery of a crucial role of cholesterol in human embryogenesis and the recent identification of a number of inherited disorders of cholesterol biosynthesis also show that low cholesterol levels (hypocholesterolemia) may have severe consequences for human health and development. In the past few years, seven distinct inherited disorders have been linked to different enzyme defects in the cholesterol biosynthetic pathway by the finding of abnormally increased levels of intermediate metabolites in patients followed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities.

Abnormalities, Multiple↗
PubMed1999

In vivo confocal scanning laser microscopy of human skin II: advances in instrumentation and comparison with histology.

In 1995, we reported the construction of a video-rate scanning laser confocal microscope for imaging human skin in vivo. Since then, we have improved the resolution, contrast, depth of imaging, and field of view. Confocal images of human skin are shown with experimentally measured lateral resolution 0.5-1.0 microm and axial resolution (section thickness) 3-5 microm at near-infrared wavelengths of 830 nm and 1064 nm; this resolution compares well to that of histology which is based on typically 5 microm thin sections. Imaging is possible to maximum depth of 350 microm over field of view of 160-800 microm. A mechanical skin-contact device was developed to laterally stabilize the imaging site to within +/- 25 microm in the presence of subject motion. Based on these results, we built a small, portable, and robust confocal microscope that is capable of imaging normal and abnormal skin morphology and dynamic processes in vivo, in both laboratory and clinical settings. We report advances in confocal microscope instrumentation and methods, an optimum range of parameters, improved images of normal human skin, and comparison of confocal images with histology.

Epidermis↗
PubMed1992

Temporomandibular joint dysfunction. Connective tissue variations in skin biopsy and mitral valve function.

Ten women with temporomandibular joint dysfunction and general joint hypermobility (score, 4 to 8) and 10 symptom-free female volunteers without systemic laxity (score, 0 to 2) were selected for the study. A biopsy of connective tissue from arm skin found that the total collagen concentrations were lower and the proteoglycan values were higher in the hypermobile TMJ patients than in the control subjects. The mitral region of the heart was inspected by echocardiography. Eight patients and four controls had slightly abnormal echocardiographic findings. Two patients fulfilled the criteria for mitral valve prolapse. The patients had significantly more musculoskeletal complaints than did the controls. The study suggests an association between joint hypermobility, abnormal skin connective tissue composition, mitral valve malfunction, and musculoskeletal disorders in young women with TMJ dysfunction, especially internal derangement.

Adult↗
PubMed2006

Defects of cholesterol biosynthesis.

Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following the finding of abnormally increased levels of intermediate metabolites in patients and confirmed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol in human embryogenesis and development. The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors.

Animals↗
PubMed1995

The influence of local skin heating and reactive hyperaemia on skin blood flow abnormalities in patients with reflex sympathetic dystrophy (RSD).

Skin blood flow in reflex sympathetic dystrophy (RSD) patients has been reported to develop from an increase at an early stage to a decrease at later stages. So far, it remains unclear whether these abnormalities are solely of microcirculatory origin, and result from functional vasospasm or structural vessel wall changes. Eighty-seven RSD patients were categorized as follows: stage I in case of a stationary warmth sensation; stage II in case of an intermittent warmth and cold sensation; and stage III in case of a stationary cold sensation. Laser Doppler flowmetry (LDF) was used as a measure of total skin blood flow and transcutaneous oximetry (TCPO2) as a measure of vascular reactivity in the more superficial skin layers. Local skin heating and reactive hyperaemia were used to study the relative reserve capacity of skin microvessels. Finapres was used to assess digital arterial pressures. As compared to healthy volunteers (n = 16), LDF under control conditions demonstrated an increase in skin blood flow at stage I (P < 0.01). A decrease in skin blood flow under control conditions was seen at stages II (P < 0.05) and III (P < 0.05), but the relative flow reserve capacity, as measured with LDF, was not impaired at these stages. Regression analysis did not show a relation between LDF parameters and duration of the syndrome. TCPO2 revealed no differences between patient groups and controls. Regression analysis did not demonstrate a relation between TCPO2 parameters and duration of the syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Cutaneous vasomotor responses in young type I diabetic patients.

Abnormal skin temperature reactions have been reported in type I diabetic patients. Whether this is due to a primary vascular disturbance or autonomic neuropathy is unclear. The aim of this study was to clarify this issue by evaluating cutaneous circulatory reactions before and after provocation. Seventeen type I diabetic patients and 17 age-matched controls were studied by recording blood flow (laser Doppler technique) on the dorsum of the hand (before, during, and after arterial occlusion), blood flow and skin temperatures on the dorsum of the foot and on the toe (before and after cooling followed by indirect body heating) and autonomic nerve function (heart rate reaction to deep breathing and to tilting). The results showed that before [4.6 +/- 0.5 perfusion units (PU) versus 6.1 +/- 0.7 PU; p = 0.0356] and after arterial occlusion (17.5 +/- 1.6 PU versus 25.3 +/- 1.7 PU; p = 0.0024), hand skin blood flow was significantly lower in patients than in controls. On the dorsum of the foot, skin temperatures was significantly lower in patients than in controls before cooling (29.2 degrees C +/- 0.3 degrees C versus 30.5 degrees C +/- 0.4 degrees C; p = 0.0107) whereas toe temperature and toe blood flow were similar before and after cooling in patients and controls. After body heating, however, toe temperature (after 30 min: 25.2 degrees C +/- 1.4 degrees C versus 30.9 degrees C +/- 1.2 degrees C; p = 0.0022) and toe blood flow (after 30 min: 10.9 +/- 2.5 degrees C versus 22.9 +/- 4.9 PU; p = 0.0313) were significantly lower in patients than in controls, especially in patients with parasympathetic neuropathy (i.e., patients with abnormal heart rate reactions to deep breathing). In conclusion, type I diabetic patients demonstrated a vascular disturbance in their skin that seemed to be exaggerated by parasympathetic neuropathy.

Adult↗
PubMed1997

Serotonin decreases cytoskeletal and cytosolic glycolytic enzymes and the levels of ATP and glucose 1,6-bisphosphate in skin, which is prevented by the calmodulin antagonists thioridazine and clotrimazole.

Serotonin (5-hydroxytryptamine) is believed to play a pathogenic role in skin damage and various skin abnormalities; however, its mechanism of action remains unknown. We show here that intradermal injection of serotonin in rats induced a marked reduction in the activities of the glycolytic enzymes, phosphofructokinase (EC 2.7.1.11) and aldolase (EC 4.1.2.13), in both the cytoskeletal and cytosolic fractions from skin. Serotonin also decreased the levels of glucose 1,6-bisphosphate in skin, the powerful regulator of glucose metabolism. These serotonin-induced changes were accompanied by a marked decrease in ATP content in skin. All these pathological changes induced by serotonin were prevented by treatment with two structurally different calmodulin antagonists: thioridazine, an antipsychotic phenothiazine, or clotrimazole, from the group of the antifungal azole derivatives that were recently recognized as calmodulin antagonists. The present results suggest that calmodulin antagonists may be effective drugs in the treatment of skin damage under various pathological conditions and diseases in which serotonin levels are increased.

Adenosine Triphosphate↗