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At least 19 recordsLinked to original sources

Abnormal skin temperature and abnormal sympathetic vasomotor innervation in an experimental painful peripheral neuropathy.

A chronic constriction injury to the sciatic nerve of the rat produces a neuropathic pain syndrome that has many of the symptoms that are seen in humans with painful peripheral neuropathy. In particular, both the clinical and experimental conditions are accompanied by an abnormality of cutaneous temperature regulation in the painful area. A time course study was made of this phenomenon in the experimental model. In normal rats, there is little or no difference between the temperature of the two hind paws (plantar skin). After nerve injury, however, approximately 75% of the rats (N = 30) had abnormally large (greater than +/- 0.9 degrees C) temperature differences (delta T) between the affected and sham-operated sides. The abnormal delta Ts could be either positive or negative, i.e., the affected side could be hotter or colder than normal. For individual cases, the temperature abnormality was highly variable over time periods of hours to days; abnormally hot skin could switch to being abnormally cold, and vice versa, and small delta Ts in the normal range could switch between abnormal extremes. Despite this individual variability, the average delta T of the group as a whole displayed a clear evolution over the course of the 30-day observation period: abnormally hot initially and progressing to abnormally cold. A parallel time course study was made of the status of the sympathetic vasoconstrictor innervation to the affected hind paw (plantar artery and vein). As demonstrated with a histofluorescence method that visualizes catecholamines, there was a gradual loss of norepinephrine (NE)-containing sympathetic efferents on the nerve-injured side. The decrease was first noted on postoperative day 5 (PO5), was very marked by PO10-PO14, and progressed to a complete or nearly complete loss by PO30. There was a concomitant decrease in staining for two other substances found in vasoconstrictor efferents, dopamine-beta-hydroxylase (DBH) and neuropeptide Y (NPY). The NE-containing innervation of the contralateral (sham-operated) plantar vessels appeared to be normal at all times. Lastly, in order to determine whether there was any relation between the temperature abnormality and the status of the sympathetic perivascular plexus, additional rats were sacrificed immediately after skin temperature measurement and the hind paw vessels were stained for NE. The vasculature of some abnormally cold paws had no detectable NE. Some rats that did not appear to have a temperature abnormality also had no detectable NE on the affected hind paw's vasculature. The vasculature of some abnormally hot paws had normal NE.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals

Skin abnormalities of the back in diastematomyelia.

The presence of congenital skin abnormalities on the back may be associated with a serious underlying spinal anomaly, diastematomyelia. The significance of the progressive development of neurological deficits, due to the presence of a bony or cartilaginous spur in the spinal cord, is stressed. An awareness of this condition should lead to an early diagnosis with a neurological evaluation and, if necessary, prophylactic surgery before irreversible nerve damage develops.

Adolescent

alpha1-Antitrypsin deficiency and skin abnormalities.

A 19-year-old Moroccan male was found to have total absence of serum alpha1-antitrypsin, a major inhibitor of elastase. This patient had chronic obstructive lung disease, hyperextensibility of the skin over the cheeks and wrists, and hyperlaxity of the hand joints. Microscopic sections of the skin revealed a thickened dermis with shortened and rarefied elastic fibers. Ultrastructural study showed collagen fibers with variable and irregular diameters. Elastic fibers were scarce and their relatively poor matrix was surrounded by numberous microfibrils. The outline of the fibers was irregular with deep recesses filled with microfibrils. The ergastoplasm of the fibroblasts was well developed. The differential diagnosis with other connective dystrophies showed the original characteristic of this case. Clinically and histopathologically, the skin abnormalities are probably related to the deficiency in elastase inhibitor.

Adult

Is the stratum corneum of uninvolved psoriatic skin abnormal?

A variety of abnormalities of the uninvolved skin have been reported in psoriasis, but there are few studies in which abnormalities of the stratum corneum (SC) have been investigated. In this study we have examined the intracorneal cohesion and structural detail of corneocytes of the SC from involved and uninvolved sites in 24 patients with psoriasis and 10 controls. We have found that intracorneal cohesion is increased in the involved and uninvolved skin of psoriatic patients compared to controls and that there are abnormalities of stratum corneum and corneocyte structure as determined by scanning electron microscopy. The changes in the uninvolved sites may well be due to the increased rate of epidermal cell production in these areas.

Adult

[Genetic interpretation of linear skin abnormalities].

For the linear distribution of congenital skin lesions, modern genetics offers several explanations. Localized linear nevi may be due to somatic mutations. Generalized linear nevi may be the result of early somatic mutations or of gametic half chromatid mutations. The generalized linear patterns of incontinentia pigmenti, focal dermal hypoplasia and sex-linked chondrodysplasia punctata may be explained by functional X-chromosome mosaicism. The same mechanism may account for a peculiar striation of bones observed in focal dermal hypoplasia. Exceptional cases of incontinentia pigmenti and focal dermal hypoplasia in males may be due in part to the gonosome constitution XXY, and in part to gametic half chromatid mutations.

Bone and Bones

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

Four patients with features suggestive of chromosome disorders but with normal lymphocyte karyotypes were found to have chromosome aberrations in skin fibroblast karyotypes. Although mosaicism for chromosome abnormalities in lymphocyte cultures is common, apparent restriction of mosaicism to one tissue is unusual. We suggest that after examination of lymphocyte karyotypes, certain patients warrant cytogenetic evaluation of a second tissue, usually cultured skin fibroblasts.

Adolescent

Abnormal skin collagen in scleroderma.

A significant decrease in the content of hydroxyproline and hydroxylysine was found in the skin of patients with generalized scleroderma (acrosclerosis), the lowering of Hyp being more marked than that of Hyl. The production of an abnormal collagen or a change from one collagen type to another is suggested to take place.

Collagen

Leucocyte function in paraproteinaemia.

Cellular immunity has been studied by means of lymphocyte response to PHA, delayed hypersensitivity and skin window responses in 23 patients with myeloma (14 IgG, 9 IgA) and 14 patients with macroglobulinaemia. In the myeloma patients, 14% had abnormal PHA response and 29% were anergic. In those with macroglobulinaemia, 29% showed abnormal PHA response and 57% were anergic. In myeloma, the abnormal PHA response was due to a serum inhibitor. Abnormal skin window responses were present in 75% of the patients with myeloma, but only 22% of those with macroglobulinaemia. All the myeloma patients with anergy had abnormal skin windows but this correlation did not exist in macroglobulinaemia. No correlation was found between the paraprotein concentration and anergy, PHA response or skin window. The results support the conclusion that myeloma is predominantly associated with an abnormal skin window (inflammatory) response and macroglobulinaemia with intrinsic abnormalities of cellular immunity. When anergy and abnormal PHA response are present in myeloma, it appears to be attributable to an effect of the paraprotein and not an intrinsic abnormality of lymphocytes.

Adult

Skin capillary abnormalities as indicators of organ involvement in scleroderma (systemic sclerosis), Raynaud's syndrome and dermatomyositis.

Forty-four study patients with scleroderma (systemic sclerosis) (28 patients), Raynaud's syndrome (13 patients) or dermatomyositis (three patients) were observed for skin capillary abnormalities by widefield microscopy and compared with three control groups of 20 subjects each: (1) patients with other rheumatic disease, (2) hospitalized patients with nonrheumatic conditions, and (3) healthy volunteers. The distinctive microvascular pattern (dilated and distorted capillary loops alternating with avascular areas) previously reported in scleroderma and dermatomyositis was observed almost exclusively in the study patients. The severity of capillary abnormalities varied among the diagnostic subgroups, and a positive correlation was found between the degree and extent of abnormal microvascular patterns and multisystem involvement. On this basis, widefield nailfold capillary observations are proposed as a simple, inexpensive, reproducible technic for making an improved early diagnosis and predicting multisystem involvement in scleroderma, Raynaud's syndrome and dermatomyositis, presently a group of loosely associated and overlapping connective tissue disorders which often defy early and precise diagnosis.

Adult

Chromosome abnormalities in skin fibroblasts probably induced by an anti-cancer drug.

Chromosome findings in cultured skin fibroblasts from a patient treated with an anti-cancer drug, pepleomycin sulfate, for his penis cancer are reported. In two batches of specimens (days 16 and 34, respectively), out of 120 cells examined, a total of 26 abnormal cells (21.7%) were found with no common chromosome abnormalities; there were no clones. This cytogenetic pattern of abnormalities without clones in cultured skin fibroblasts differs from that seen in congenital disease or radiation-exposed skin fibroblasts. It is suggested that the anti-cancer agent is the most likely etiological factor for these uncloned chromosome abnormalities in cultured skin fibroblasts.

Bleomycin

Chromosomal abnormalities in skin following total body or total lymphoid irradiation.

Patients undergoing bone marrow transplantation often receive total body or total lymphoid irradiation as part of the conditioning regimen prior to marrow infusion. The cytogenetic effects of this therapy on skin fibroblasts were studied. Fibroblast cultures from eight skin biopsies were harvested in early passages for G-banded chromosome analysis. Four biopsies were from three patients who had high-dose cyclophosphamide and total body radiotherapy; one was from within and one was from outside the radiation field of a patient who had high-dose cyclophosphamide and lymphoid radiotherapy, one was from a patient who had combination chemotherapy alone, and one was from a normal control. No abnormal mitoses were found in the control or the patient who had chemotherapy alone, and only two of 30 mitoses from skin outside the lymphoid radiotherapy field were abnormal. However, most cells (49-88%) from five biopsies within radiotherapy fields were abnormal. Typically, abnormal karyotypes were pseudodiploid and contained multiple balanced rearrangements, of which reciprocal translocations were most common. The data indicate that the radiotherapy used for bone marrow transplantation induces extensive, sustained chromosome abnormalities in vivo in skin fibroblasts.

Adolescent

Ultrastructure of skin biopsy specimens in lysosomal storage diseases: common sources of error in diagnosis.

Common sources of error in the diagnosis of lysosomal storage diseases by ultrastructural examination of skin specimens have been identified in a series of biopsies from 72 patients. Four principal factors have emerged as leading pitfalls and sources of error in diagnosis. First, the skin biopsy technique itself may lead to alterations of normal skin ultrastructure. Second, artifacts may be produced during fixation and preparation of tissue for electron microscopy. Third, cellular organelles and structures normally present in human skin may be mistakenly interpreted as pathological. Fourth, the use of cultured skin fibroblasts for ultrastructural identification of storage material is often accompanied by artifacts induced in tissue culture and is not recommended. Recognition of these common problems may aid interpretation of the fine structure of skin abnormalities. Furthermore, when skin biopsy specimens are used as the primary source of diagnostic material, correlation of both skin ultrastructure and assay for specific lysosomal enzymes in cultured dermal fibroblasts will facilitate diagnostic accuracy.

Biopsy

Abnormal sympathetic skin responses in thalamic lesions.

Sympathetic skin responses (SSRs) were abolished in 4 patients affected with fatal familial thalamic degeneration involving the anterior (A) and dorsomedial (DM) thalamic nuclei, without lesions of the peripheral vegetative system. Abnormalities of SSR were not due to peripheral nerve lesions. It is concluded that SSR integrity also depends upon thalamic formations ("visceral" thalamus) and their frontal cortical connections.

Adult

Effects of blood pressure reduction on the structural vascular abnormality in skin and muscle vascular beds in human essential hypertension.

1. Vascular resistance at maximal vasodilatation was examined in two vascular beds in two groups of hypertensive patients and in normotensive control subjects before and during anti-hypertensive therapy in the hypertension groups. 2. In one group of twelve untreated patients with essential hypertension, examined with plethysmography and intra-arterial blood pressure recording, a significantly higher vascular resistance at maximal vasodilatation was found in the hands compared with normotensive control subjects matched for age, sex, weight and height. This indicated a structural vascular abnormality in the patient group. 3. After 5 years of anti-hypertensive therapy in the patient group the difference in vascular resistance between patients and control subjects had decreased significantly, indicating a reversibility of the structural vascular abnormality. 4. Vascular resistance at maximal vasodilatation was examined in the calves of twelve untreated patients with essential hypertension and fourteen normotensive control subjects. Plethysmographic technique and indirect blood pressure recordings were used. A significantly higher vascular resistance was found in patients than in control subjects, indicating a structural vascular abnormality also in this vascular bed. 5. Anti-hypertensive treatment for 6 months in the patient group did not change vascular resistance at maximal dilatation, indicating that the structural vascular abnormality remained. 6. During acute reduction of blood pressure in hypertension by means of trimethaphan infusion, blood pressure and blood flow to the hands were reduced proportionally with no change of vascular resistance at maximal vasodilatation. 7. This indicates that resistance at maximal dilatation was unaffected by the acute reduction of blood pressure, in contrast to the findings after prolonged reduction of blood pressure in this vascular bed.

Blood Flow Velocity

An unusual case of craniofacial fibrous dysplasia presenting in early infancy.

Fibrous dysplasia (FD) of bone is one of the most frequently encountered anomalies of skeletal development. It may involve one or more bones and, particularly when polyostotic, is sometimes associated with abnormal skin pigmentation and endocrine abnormalities. FD occurs mainly in large limb bones, ribs, and craniofacial bones in older children and young adults. Usually craniofacial involvement is detected because of local swelling or asymmetry of the face or head. Neurological symptoms, primarily due to involvement of the foramina, have been reported but are not common. Infantile fibrous dysplasia of the craniofacial region has rarely been reported.

Angiography