Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Skin Abnormalities”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 343 records · Page 19Linked to original sources
PubMed1996

Murine toxicology and pharmacology of UAB-8, a conformationally constrained analog of retinoic acid.

(2E, 4E, 6E)-8-[3'-Ethyl-2'-(1-methylethyl)-2'-cyclohexen-1'-ylidene] -3, 7-dimethyl-2,4,6-octatrienoic acid (UAB-8) has potent activity in preventing papillomas on the skin of mice similar to that determined in a previous study for the homolog containing one less carbon atom. To evaluate the toxicological profile for UAB-8, relative to all-trans-retinoic acid (RA), female mice were dosed by oral gavage for 29 days with amounts of 0.05, 0.1, or 0.2 mmol/kg/day. For the two compounds, the effects on body weights were similar. Mice dosed with UAB-8, however, had a lower incidence of clinical signs of toxicity (alopecia, scaly skin, and limping). At necropsy, bone fractures, skin abnormalities, and splenomegaly were observed in some mice dosed with RA but not in any dosed with UAB-8. Lymph node hyperplasia was noted in some mice dosed with either dose of RA but only in those dosed with the highest dose of UAB-8. All dose levels of RA produced microscopic lesions in the bones of mice; only the highest dose of UAB-8 had this effect. RA and UAB-8 had similar effects on chondrogenesis in cultures of cells from mouse limb buds, an indication of comparable teratogenic effects. For mice dosed i.v. (10 mg/kg), there was a saturated phase of elimination of RA from plasma (Km = 0.61 microgram/ml and Vmax = 2572 micrograms/hr); no such phase was noted when UAB-8 was administered. UAB-8 had values for t1/2 alpha and t1/2 beta of 0.47 and 17.1 hr, respectively. Relative to RA, UAB-8 has a favorable toxicological profile and different pharmacokinetics.

Animals↗
PubMed1994

[Physiopathological approach and antenatal diagnosis of diabetes mellitus insulin resistant: apropos of a case with leprechaunism].

BACKGROUND: Leprechaunism is characterized by severe intrauterine growth retardation, elfin-like face, relatively large hands, feet and genitalia and abnormal skin with hypertrichosis, acanthosis nigricans and low subcutaneous fat. The insulin receptors have multiple defects. CASE REPORT: A boy was born after cesarean section at the 35th week of gestation because of intrauterine growth retardation: weight: 930 g; height: 36 cm; head circumference: 27 cm. He had trigonocephaly, coarse features and hyperkeratosis. Ultrasonography confirmed the presence of a ventricular septal defect detected during pregnancy. Hyperglucosemia (3 g/l) was associated with insulinemia above 350 mU/l; his C-peptide concentration was above 20 ng/ml. The patient was given intravenous insulin, up to 2,500 U/kg/d. He died at the age of 95 days, weighing 1500 g, with persistent hyperglucosemia and cholestasis. Postmortem examination showed adrenal and thymus hypoplasia and hyperplasia of pancreatic islet cells. Molecular biology studies showed that this patient was heterozygotic for two mutations, one in exon 20 inherited from his father, the other in exon 18 inherited from his mother; both mutations are associated with tyrosine-kinase activity of the insulin receptor. These results will be used for antenatal diagnosis in any future pregnancy. CONCLUSION: Molecular biology can indicate specific defects in the insulin receptor. It may also allow antenatal diagnosis in some families.

Abnormalities, Multiple↗
PubMed1997

Overexpression of protein kinase C-alpha and -beta isozymes by stromal dendritic cells in basal and squamous cell carcinoma.

Protein kinase C (PKC) isoenzymes transduce signals from cell surface receptors and thereby regulate important cellular functions in skin including keratinocyte growth and differentiation. Overexpression of individual PKC isoenzymes results in aberrant cell growth and in certain instances tumorigenicity. PKC is implicated in tumour promotion in mouse skin. Abnormal expression of PKC has been reported in several human cancers. We have, therefore, investigated expression of PKC-alpha and -beta in basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) by immunohistochemistry. Sections were stained with specific antibodies to PKC-alpha, PKC-beta, CD1a, T cells, B cells and dermal dendritic cells (factor XIIIa), using an immunoperoxidase technique. PKC-alpha and PKC-beta were not detected in tumour cells in BCCs or SCCs. In SCCs, PKC-beta immunostaining revealed positively stained inflammatory and dendritic cells scattered through the stroma; PKC-alpha immunostaining was essentially negative. In contrast, in BCCs, PKC-alpha+ and PKC-beta+ dendritic and spindle-shaped cells were observed in the stroma, immediately adjacent to the tumour islands. Double-labelling experiments showed that a proportion (approximately 20%) of PKC-beta+ dendritic cells also expressed factor XIIIa. BCCs depend on stroma for growth; PKC regulates expression of type IV collagenase and stromelysin III and interactions between tumour and stroma may be important in determining tumour invasion and metastasis. Therefore, overexpression of PKC-alpha and -beta by stromal dendritic cells in BCCs suggests that PKC activation may be involved in stromal/tumour interactions in these tumours.

Basal Cell Carcinoma↗
PubMed1990

Scleroderma, fasciitis, and eosinophilia associated with the ingestion of tryptophan.

An association between the ingestion tryptophan and a syndrome characterized by scleroderma-like skin abnormalities, fasciitis, and eosinophilia has recently been recognized in the United States. We report the clinical and histopathological findings in nine patients and the results of biochemical analyses of tryptophan metabolism in seven patients with this syndrome. Edema of the extremities, frequently accompanied by pruritus, paresthesia, and myalgia, developed in the nine patients (six women and three men; age range, 30 to 66 years) 1 to 18 months after the start of therapy with tryptophan (1.5 to 3.0 g daily) for insomnia, depression, or obesity. Five patients were taking drugs (benzodiazepines) known to inhibit hypothalamic-pituitary-adrenal function, and one had adrenal insufficiency. All had blood eosinophilia in the acute phase of their illness (mean eosinophil count [+/- SD], 3.62 +/- 2.87 X 10(9) cells per liter). All had histopathological changes in the dermis and subcutaneous tissue typical of scleroderma, and seven patients had eosinophils. The fascia was inflamed and fibrotic, and adjacent skeletal muscle often showed perifascicular inflammation. Tryptophan was discontinued in all patients, and eight received prednisone. The cutaneous symptoms improved, but only two patients had complete resolution of their illness. The patients had plasma levels of tryptophan before and after an oral dose of tryptophan that were similar to those in normal subjects. Plasma levels of L-kynurenine and quinolinic acid, which are metabolites of tryptophan, were significantly higher in four patients with active disease than in three patients studied after eosinophilia had resolved or in five normal subjects (P less than 0.001)--findings consistent with the activation of the enzyme indoleamine-2,3-dioxygenase. This illness resembles eosinophilic fasciitis and probably represents one aspect of the recently reported eosinophilia-myalgia syndrome. The development of the syndrome may result from a confluence of several factors, including the ingestion of tryptophan, exposure to agents that activate indoleamine-2,3-dioxygenase, and possibly, impaired function of the hypothalamic-pituitary-adrenal axis.

Adult↗
PubMed2002

Complexities in ETS-domain transcription factor function and regulation: lessons from the TCF (ternary complex factor) subfamily. The Colworth Medal Lecture.

The ETS-domain transcription factor family can be divided into a series of subfamilies. Elk-1 represents the founding member of the ternary complex factor (TCF) subfamily. By focusing on the TCF subfamily, we can demonstrate the complexities that exist in the function and regulation of ETS-domain transcription factors. This article focuses on Elk-1 in detail and summarizes the functions of other TCFs. The key themes covered include the domain structure of the TCFs, the mechanisms of complex formation with serum response factor, regulation of TCFs by mitogen-activated protein kinase cascades, and transcriptional regulatory properties of the TCFs. Finally, the emerging role of the TCFs in vivo is discussed. A picture is developing indicating that, while these proteins exhibit significant sequence and functional conservation, key differences in their structure and regulation are being identified which may relate to unique functions of these proteins in vivo.

Amino Acid Sequence↗
PubMed2000

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of relatives of patients with HED and identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission. OBSERVATIONS: Seven patients diagnosed as having HED and their first-degree relatives were carefully examined and tested with starch-iodine. Useful signs for identifying possible carriers of and postzygotic mosaics for X-linked HED and for finding distinctive features between the X-linked and the autosomal recessive forms of the disorder were recorded. Of these, the most striking finding was the clinical evidence of the distribution of normal and abnormal skin along Blaschko lines in heterozygous and postzygotic mutation carriers of X-linked HED. Six heterozygous female carriers of X-linked HED, 2 males with postzygotic mutations for X-linked HED, and 1 female with autosomal recessive HED were clinically identified. At the end, 6 families had a diagnosis of X-linked HED, while 1 had a diagnosis ofautosomal recessive HED. Clinical data, family history, and starch-iodine test results were never in conflict in the 7 families. CONCLUSIONS: Careful clinical examination is the best way to detect heterozygous carriers and postzygotic mutation of X-linked HED. Heterozygous parents of patients with autosomal recessive HED show no features of the disorder. The starch-iodine test is not superior to a clinical examination in heterozygous carrier detection but may play a confirmative role and be of help in differentiating X-linked and autosomal recessive HED in isolated patients.

Adult↗
PubMed2005

Epidemiologic study of the autoimmune health effects of a cargo aircraft disaster.

BACKGROUND: In the aftermath of a cargo aircraft crash in Amsterdam in 1992, indications of autoimmune disorders appeared in some of the affected population. METHODS: This epidemiologic study sought to determine the possible long-term autoimmune health effects of the aircraft disaster on professional assistance workers. Exposed professional firefighters (n = 334) and police officers (n = 834) who performed at least 1 disaster-related task and hangar workers who sorted and investigated the wreckage (n = 241) were compared with reference groups of nonexposed colleagues who did not perform any disaster-related tasks (n = 194, n = 634, and n = 104, respectively). Data were collected a mean of 8.5 years after the disaster. Questionnaires were used to assess disaster-related tasks and 11 autoimmune-like symptoms. All serum samples were tested for the presence of antinuclear antibodies, rheumatoid factor, and antineutrophil cytoplasmic and anticardiolipin antibodies. RESULTS: Compared with nonexposed colleagues, exposed workers reported significantly more autoimmune-like symptoms. They reported the following symptoms significantly more often: tingling sensations, myalgia, loss of strength, easily fatigued, and a feeling of sand in the eyes (all groups); infection proneness (firefighters); skin abnormalities and nocturnal transpiration (police officers and hangar workers); and vasculitis-like symptoms and Raynaud discoloring (police officers). In contrast, we found no significant difference between exposed and nonexposed workers in autoantibody prevalence. CONCLUSION: Occupational exposure to the aircraft disaster resulted in an excess of long-term self-reported autoimmune-like symptoms in exposed professional assistance workers, but there was no difference between exposed and nonexposed workers in the prevalence of autoantibodies.

Accidents, Aviation↗
PubMed1999

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein.

BACKGROUND: Many patients with classic congenital muscular dystrophy have been found to have partial or total deficiency of the alpha2 chain of laminin 2 (merosin). This deficiency has mostly been studied using only 1 antibody against a fragment of the protein. OBJECTIVES: To characterize the expression of laminin alpha2 in the skeletal muscle of patients with laminin alpha2 deficiency using antibodies against 2 different portions of the protein and to correlate the immunochemical findings with clinical phenotype. METHODS: We studied 4 patients with total lack of laminin alpha2 and 12 with partial laminin alpha2 deficiency with immunohistochemical techniques and Western blot analysis. We used antibodies recognizing an 80-kd fragment toward the C-terminus and a 300-kd fragment toward the amino-terminal. Patient characteristics examined were functional compromise, magnetic resonance imaging or computed tomography of the brain, electromyography, evoked potentials, and creatine kinase levels. RESULTS: In 4 patients, immunohistochemical analysis revealed no reactivity to either antibody; in 2 patients, the 300-kd fragment alone was partially expressed; in 2 patients, the 80-kd fragment alone was partially expressed; and in 8 patients, both fragments were partially expressed. Immunoblot analysis revealed bands of reduced intensity and normal molecular weight generally corresponding to the immunohistochemical findings. Absence of both fragments or of one with reduction of the other always produced a severe clinical phenotype, while a milder clinical phenotype was observed when both fragments were partially expressed. CONCLUSIONS: Extent of laminin alpha2 deficiency in most cases correlates with clinical phenotype but not with peripheral and central white matter abnormalities. Skin biopsy specimens may reveal laminin alpha2 deficiency in patients who have normal laminin alpha2 levels in muscle biopsy specimens.

Adolescent↗
PubMed1998

Inherited macrocephaly-hamartoma syndromes.

Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.

Hamartoma Syndrome, Multiple↗
PubMed1999

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

The finding of stippled epiphyses on a neonatal radiograph generates a wide differential diagnosis, including genetic and teratogenic causes. We report the case of a male infant with stippled epiphyses evident on neonatal radiographs in whom a typical rash of lupus erythematosus developed. The skin abnormalities in the infant resulted in a diagnosis of systemic lupus erythematosus in his mother. Over a 3-year follow-up period, the child has demonstrated strikingly short stature, midface hypoplasia, anomalous digital development, slow resolution of the stippled epiphyses, and near normal cognitive development. The differential diagnosis of chondrodysplasia punctata and the literature supporting maternal lupus as one cause are reviewed.

Adult↗
PubMed1996

Are copper vapour and frequency doubled Nd:YAG lasers superior to the argon laser for portwine stains at pulse widths of 30-50 milliseconds?

BACKGROUND AND OBJECTIVE: The copper vapour laser (CVL) and the frequency doubled Nd:YAG laser (FDNYL) have been increasingly adopted as alternatives to the argon laser for treating vascular skin lesions. Automated scanning devices that permit the use of any of these lasers at 30-50 ms pulse widths are now widely used. The object of this study was to compare the CVL and FDNYL with the argon laser using pulse widths in the 30-50 ms range. STUDY DESIGN/MATERIALS AND METHODS: Thirty-one adult patients with red-purple or purple portwine stains (PWS) were treated with a CVL at 578 nm, a FDNYL at 532 nm, and an argon laser at 488/514 nm. Test areas were performed using a Hexascan delivery system and an energy fluence just sufficient to produce immediate tissue change. Pulse widths were maintained constant for each patient (mean 40 msec). The mean fluences used were 13.1 J/cm2, 13.2 J/cm2, and 13.0 J/cm2, respectively. Assessments were made after 4 months using a clinical fading score and an index of light absorbence derived from reflectance spectrophotometry. RESULTS: Fading scores were statistically significantly better with the CVL (score = 2.29) than the FDNYL (score = 1.83, P < 0.02) and the argon laser (score = 1.89, P < 0.003). The differences between the FDNYL and the argon laser were not significant. Although there was a trend toward lower light absorbence index with the CVL than the argon laser and FDNYL (scores = 177, 179 and 181, respectively), these differences were not statistically significant. CONCLUSIONS: Despite slightly better results with the CVL in terms of the fading produced, differences among the CVL, FDNYL, and argon lasers are small when 30-50 ms pulse widths are employed and are of doubtful clinical significance for darker PWS.

Absorption↗
PubMed1996

Histological responses of port wine stains in brown skin after 578 nm copper vapor laser treatment.

BACKGROUND AND OBJECTIVES: The object of this study is to characterize the effects of epidermal melanin in brown skin on selective vessel damage by copper vapor laser radiation in port wine stain (PWS). STUDY DESIGN/MATERIALS, AND METHODS: We observed the histological changes of PWS in Korean patients who received copper vapor laser (578 nm) treatment over a range of energy densities (6-14 J/cm2) and exposure durations (30-200 ms). The nitroblue tetrazolium chloride (NBTC) staining method was used to differentiate between the blue-stained viable cells and the unstained thermally damaged cells. RESULTS: With Fontana-Masson stain, we found that Korean skin has more epidermal melanin than Caucasian skin. For energy densities greater than 6 J/cm2, epidermal damage was observed. At 6 and 8 J/cm2, the damage to the dermis was localized to the blood vessels and the perivascular tissue. The connective tissue between damaged vessels and epidermis was still viable. Energy densities above 10 J/cm2 produced a diffuse thermal necrosis. We conclude that vascular selectivity without epidermal damages cannot be achieved with a 50 ms exposure at 578 nm in the brown skin of Koreans. The energy density for clinical minimal whitening was 6-8 J/cm2, and the maximum penetration depth of these energy densities was 0.4 mm. We also found that the epidermal damage increased with increasing pulse widths at a fixed energy density (10 or 8 J/cm2) while the severity and depth of vascular damage decreased. These findings suggest that it is best to treat PWS with a copper vapor laser at the minimal pulse width and maximal power output possible at given energy density. CONCLUSION: We have demonstrated that the copper vapor laser treatment of PWS in the brown skin is not as selective as in white skin because of epidermal melanin.

Adult↗
PubMed1997

Interdigitating reticulum-cell sarcoma of the intestine: a case report and review of the literature.

Dendritic cells are immune accessory cells which are widely distributed in many tissues. Those which are present within lymphoid follicle centers are classified as follicular dendritic cells. Those which are found outside germinal centers may be referred to as interdigitating reticulum cells, or Langerhans cells when they occur in the skin. Abnormal proliferations of dendritic cells are best known as the group of disorders comprising Langerhans-cell histiocytosis, which occurs primarily in children and teenagers. There are increasing reports of malignant proliferations of both types of dendritic cells in adults. However, there is only one previous description of the cytologic features of a dendritic cell sarcoma based on imprint cytology of a resected jejunal mass. The current report provides a detailed description of the cytologic features of a fine-needle aspirate of a recurrence of an interdigitating reticulum-cell sarcoma of the cecum.

Aged↗
PubMed2004

Erythropoietin-deficient anemia associated with autoimmune polyglandular syndrome type I.

Autoimmune polyglandular syndrome type I (APS1), a relatively common disorder in some populations, is frequently associated with adrenal insufficiency, hypoparathyroidism, and other endocrine and skin abnormalities. We describe an 18-year-old male with APS1, as documented by genotyping, who presented with hypoparathyroidism and a normocytic, hypoproliferative, isolated anemia. An extensive hematological work-up revealed a low serum erythropoietin, without any other hematological abnormalities. His renal function was normal, and he did not have many of the laboratory or clinical findings associated with an anemia of chronic disease. His anemia was responsive to superphysiologic doses of erythropoietin. We thus suggest that erythropoietin deficiency may be one of the endocrine abnormalities associated with APS1, and clinicians should be cognizant of the association of treatable anemia in patients with APS1.

Adolescent↗
PubMed1990

Previously unrecognized congenital progeroid disorder.

We report on a 5-year-old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre- and post-natal growth retardation, markedly diminished subcutaneous fat, wrinkled skin, abnormally scant hair growth, hypoplastic distal phalanges with hypoplastic nails, umbilical hernia, large open anterior fontanelle, and normal cognitive and motor development. Both patients have had a prematurely aged appearance since birth. These 2 patients appear so different from previously reported patients with progeroid disorders that they may represent a separate entity.

Abnormalities, Multiple↗
PubMed2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20&#x2009;years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in XRRC2 causes a distinctive FA-like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.

Humans↗