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At least 19 recordsLinked to original sources
PubMed1991

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↗
PubMed1986

A model for quantifying absorption through abnormal skin.

Techniques are available for quantitatively studying factors governing absorption through normal skin (in vivo and in vitro) but relatively little is known about the permeability of abnormal skin. We have designed and evaluated an in vivo model for quantifying absorption through abnormal skin. Absorption of [3H]mannitol and [14C]octyl benzoate was studied through altered rat skin. [3H]Mannitol penetrated normal skin much more slowly than did [14C]octyl benzoate. Abnormal skin was more permeable to [3H]mannitol and [14C]octyl benzoate, absorption was greater than 100X and greater than 2X greater, respectively, than normal. The in vivo model has been successfully used to quantify absorption through abnormal skin.

Animals↗
PubMed1997

Skin abnormalities in neurofibromatosis 2.

OBJECTIVE: To determine the prevalence, distribution, and histopathological conditions of skin abnormalities in neurofibromatosis 2 (NF2). DESIGN: Case series. SETTING: Hospital neurology department. PATIENTS: Consecutive sample of 88 patients with NF2 referred through workshops and publications, genetic counseling, and referral from neurosurgical departments; 81 patients met the National Institutes of Health, Bethesda, Md, NF2 diagnostic criteria and the diagnosis was established by mutation or segregation analyses in 7 patients. MAIN OUTCOME MEASURES: Prevalence, distribution, and type of skin abnormalities; histopathological features of 29 skin tumors selected primarily for medical indications. RESULTS: Fifty-two patients (59.1%) had 458 skin tumors, which were the first presenting sign in 27.3% of patients and usually appeared as flat dysplastic tumors or subcutaneous spherical nodular tumors of the peripheral nerves, on the limbs and trunk. Although 29 patients (33.0%) had café au lait spots, only 2 patients had as many as 6 spots. compared with patients with milder disease, patients with more severe disease had a significantly greater prevalence of skin tumors (24.0% and 71.0%, P < .001), more than 10 skin tumors (0.0% and 27.4%, P = .004), flat dysplastic skin tumors (8.0% and 54.8%, P < .001), and subcutaneous spherical nodular tumors (24.0% and 58.1%, P = .004). The histologically analyzed tumors were predominantly schwannomas, but 5 were neurofibromas and 2 were mixed tumors. CONCLUSIONS: The prevalence of some skin tumor types in NF2 is high and varies with disease severity, and schwannomas predominate in sampled tumors. The occurrence of neurofibromas is surprising, but could be explained by an interaction between neurofibromin and the NF2 gene product in regulating the ras proto-oncogene.

Adolescent↗
PubMed1979

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↗
PubMed2005

Transgenic rats overexpressing the human MrgX3 gene show cataracts and an abnormal skin phenotype.

The human MrgX3 gene, belonging to the mrgs/SNSRs (mas related genes/sensory neuron specific receptors) family, was overexpressed in transgenic rats using the actin promoter. Two animal lines showed cataracts with liquification/degeneration and swelling of the lens fiber cells. The transient epidermal desquamation was observed in line with higher gene expression. Histopathology of the transgenic rats showed acanthosis and focal parakeratosis. In the epidermis, there was an increase in cellular keratin 14, keratin 10, and loricrin, as well as PGP 9.5 in innervating nerve fibers. These phenotypes accompanied an increase in the number of proliferating cells. These results suggest that overexpression of the human MrgX3 gene causes a disturbance of the normal cell-differentiation process.

Animals↗
PubMed1994

Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.

The sparse fur-abnormal skin and hair (SPF-ASH) mouse is a model for the human X-linked hereditary disease, ornithine transcarbamylase (OTC) deficiency. This condition is characterized by abnormal skin and delayed hair growth, hyperammonemia, orotic aciduria and low levels of serum citrulline and arginine. Murakami et al. [1] established a line of transgenic mice, by introducing the recombinant rat OTC (rOTC) gene into fertilized C57BL mouse eggs. We introduced the rOTC gene into SPF-ASH mice by mating SPF-ASH heterozygotes and transgenic mice, which carried this gene. The hemizygous SPF-ASH mice bearing the rOTC gene showed normal hair growth without sparse fur, normal urinary orotic acid excretion and normal serum citrulline and arginine levels. These mice showed OTC activities 2 and 6 times higher in the liver and small intestine, respectively, than the SPF-ASH mice but about 12% and 27% those of the controls [2].

Animals↗
PubMed1993

Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.

A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.

Abnormalities, Multiple↗
PubMed1983

Simultaneous treatment of lower eyelid dermatochalasis and abnormal-appearing skin.

Abnormal, thin, crinkly, or pigmented nasal lower eyelid skin is sometimes associated with dermatochalasis (excessive skin). In these cases, excision of temporal lower eyelid skin by conventional cosmetic blepharoplasty draws and diffuses this abnormal skin temporally and worsens the appearance of the lower eyelid skin. A new procedure in which excessive abnormal skin is excised nasally rather than temporally draws and diffuses the more normal temporal skin nasally and improves the appearance of the lower eyelid skin. This approach simultaneously resolved dermatochalasis and abnormal-appearing lower eyelid skin in six eyelids of three patients without complications.

Cutis Laxa↗
PubMed1975

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↗
PubMed2005

A mutant mouse with severe anemia and skin abnormalities controlled by a new allele of the flaky skin (fsn) locus.

We found a novel recessive mutation in an inbred strain, INT, that was derived from an ICR closed colony. Mice homozygous for this mutation are identified by severe anemia, dysgenesis and neonatal death. This mutation was tentatively named int. Intercrosses of int heterozygotes (+/int) and the flaky skin heterozygotes (+/fsn) resulted in abnormal mice (int/fsn heterozygotes) showing anemia and flaky skin with the expected frequency for autosomal recessive mutation. The int gene was therefore named fsn(Jic) as an allele of the fsn locus on chromosome 17. We carried out phenotype analyses using B6.INT- fsn(Jic) mice to observe phenotypes of blood and skin in the embryonic and neonatal stages. Discrimination of fsn(Jic) embryos from normal embryos was performed by an indirect diagnosis of the fsn(Jic) gene using the D17Mit130 microsatellite marker tightly linked to the fsn locus. The number of fetal nucleated RBC of normal embryos decreased gradually to 17.5 dpc, but that of the abnormal embryos decreased to 14.5 dpc followed by a gradual increase to 17.5 dpc. Skin of fsn(Jic) embryos did not show any abnormalities and expressed cytokeratins normally as skin epithelial cell markers at each embryonic stage (15.5 dpc to 18.5 dpc). Time differences in the appearance of the different phenotypes observed in various tissue and organs of fsn homozygotes suggest they are caused by expression of the fsn gene at different developmental stages.

Alleles↗
PubMed1994

Skin abnormalities and autonomic involvement in the early stage of amyotrophic lateral sclerosis.

With the aim to evaluate skin abnormalities in patients affected by amyotrophic lateral sclerosis (ALS) with respect to the dermal ultrastructure, including autonomic termination, microcirculation and sweat glands, 13 ALS patients and 5 controls underwent a skin biopsy of the left forearm. Abnormalities of the collagen and elastic fibrils were found in 4 and 5 patients respectively; amyelinic axons and sweat glands showed ultrastructural abnormalities in most ALS patients but not in controls; a quantitative evaluation of the collagen fibrils showed greater diameter of fibrils, larger interfibrillar spaces and more consistent size variation in ALS patients than in controls. These results suggest autonomic involvement in ALS and changes in the collagen fibril organization during the early stages of the disease.

Aged↗
PubMed1993

Replacement of chlorpromazine with other neuroleptics: effect on abnormal skin pigmentation and ocular changes.

This paper describes the outcome of 15 patients with chlorpromazine (CPZ)-induced abnormal skin pigmentation (ASP) in whom CPZ was replaced with other neuroleptics for three to 13 years. Complete resolution of ASP occurred over a period of six months to five years following substitution with haloperidol (four patients), levomepromazine (three patients), trifluoperazine (one patient), thioproperazine (one patient) as the sole neuroleptic, by a combination of two of the three phenothiazines (four patients) or haloperidol plus pipotiazine (one patient). Resolution was maintained during the remainder of the follow-up period. In one patient, at final follow-up, marked improvement was present three years after CPZ was replaced with levomepromazine. Bilateral lenticular pigmentary deposits persisted in all eight patients examined 3.3 to 13 years after replacing CPZ and less than three months to nine years after resolution of ASP; improvement was noted in only one of these patients. Bilateral endothelial corneal deposits, present in five patients while on CPZ therapy, had disappeared in two patients seven and 13 years, respectively, after replacing CPZ; improvement was noted in two other patients. These findings indicate that: 1. CPZ-induced ASP is completely reversible in most, if not all, patients if CPZ is withdrawn; 2. a variety of neuroleptics including other phenothiazines can be used to replace CPZ without risk of re-emergence of ASP; 3. CPZ-induced lenticular changes persist whereas corneal changes may resolve slowly over a period of many years following replacement of CPZ; 4. ASP and ocular changes induced by CPZ may be subserved by two different pathophysiological mechanisms.

Adult↗
PubMed2002

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

Abnormalities, Multiple↗
PubMed2006

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).

Transcription factor paralogs may share a common role in staged or overlapping expression in specific tissues, as in the Hox family. In other cases, family members have distinct roles in a range of embryologic, differentiation or response pathways (as in the Tbx and Pax families). For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities. Mice deficient for Irf6 have not been reported, but in humans, mutations in IRF6 cause two mendelian orofacial clefting syndromes, and genetic variation in IRF6 confers risk for isolated cleft lip and palate. Here we report that mice deficient for Irf6 have abnormal skin, limb and craniofacial development. Histological and gene expression analyses indicate that the primary defect is in keratinocyte differentiation and proliferation. This study describes a new role for an IRF family member in epidermal development.

Animals↗
PubMed1979

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↗
PubMed1997

Skin abnormality in aged fyn-/- fak+/- mice.

Focal adhesion kinase (FAK) is a novel non-receptor protein tyrosine kinase implicated in transducing signals from cell surface receptors. Its association with Fyn, a member of the Src family of tyrosine kinases, has been observed in cell lines. To examine in vivo the interaction between these two proteins, Fyn-deficient mice were bred with fak heterozygous mutants (Fak deficiency is embryonic lethal). A majority of animals with the double mutation (fyn-/- fak+/-) displayed a transient impairment in thymocyte development at four weeks of age. However, all of them developed skin abnormalities at the age of 8-12 months. The most prominent among abnormalities was a greatly increased number and size of sebaceous glands. Also, the epidermis was thickened and hyperkeratotic. These observations would suggest involvement of Fyn and FAK in keratinocyte differentiation.

Age Factors↗