[Associated abnormalities in skin hemangioma].
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Abnormalities, Multiple↗
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Skin capillary abnormalities in patients with Raynaud's phenomenon.
The digital skin microcirculation was studied by vital capillaroscopy in 32 consecutive patients with Raynaud's phenomenon. A detailed classification (stages 0-6) of the capillary abnormalities based upon observations of the capillaries in many different sites of the fingers was used. Associated diseases were searched for by an extensive clinical and immunological investigation. Seventeen (53%) of the patients had distinct structural changes in the capillaries but only 6 of them showed a restricted total digital circulation. Fifteen (88%) of these 17 patients displayed an underlying disease and/or immunological abnormalities. The corresponding figure for patients with mild or no capillary changes was 40% (p less than 0.01). Thus, the presence of marked (greater than or equal to stage 3) skin capillary abnormalities seems to be a good indicator of an associated systemic disease. The majority of patients in this category improved their capillary status during successful treatment of the underlying disease. We conclude that the form of capillaroscopy used in this study is a sensitive method for evaluating disturbances of the skin microcirculation in patients with Raynaud's phenomenon. The method may also contribute to the clinical evaluation of patients with this syndrome by identifying those with an underlying systemic disease.
Adolescent↗
Sympathetic skin response abnormalities in amyotrophic lateral sclerosis.
The sympathetic skin response (SSR) was evaluated in 25 patients with amyotrophic lateral sclerosis (ALS) to assess for involvement of the autonomic nervous system. Twenty-two age-matched normals and 6 patients with muscular dystrophy served as controls. The SSR was intact in all normal volunteers and all patients with muscular dystrophy. The mean SSR latency in the ALS patients was prolonged compared to that of normals (2.29 +/- 0.28 versus 2.13 +/- 0.16 s, P < 0.05). The SSR was absent in one or both legs of 10 ALS patients (40%). Absence or abnormal latency of SSR in patients with ALS without clinical findings of autonomic failure suggests involvement of the autonomic nervous system in addition to the motor system.
Adult↗
A syndrome of hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS).
Hemimaxillofacial dysplasia and segmental odontomaxillary dysplasia appear to be the same syndrome, having the common features of unilateral abnormalities of bone, teeth, gums, and skin. Oral manifestations are the hallmark of this condition. Those affected are generally recognized in childhood and may have partial anodontia, abnormal spacing of the teeth, delayed eruption, and gingival thickening of the affected segment. Reported cutaneous manifestations include facial asymmetry, Becker's nevus, "hairy nevus," lip hypopigmentation, discontinuity of the vermilion border, depression of the cheek, and erythema. The oral lesions do not appear to be progressive. We describe a child with features consistent with hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia. Findings of a biopsy specimen from the cheek confirmed the presence of a Becker's nevus. Cutaneous findings reported in the previous 31 cases are reviewed and summarized. The acronym HATS (hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings) is introduced to reflect the spectrum of abnormalities in bone, teeth, and skin that may be seen in this developmental disorder.
Abnormalities, Multiple↗
Upregulation of histidine decarboxylase mRNA expression in scleroderma skin.
The involvement of histamine in the pathogenesis of systemic sclerosis (SSc) has been suggested. Possible involvement of histamine and histidine decarboxylase (HDC), the synthesizing enzyme for histamine, in the formation of the skin abnormalities in SSc was studied. Skin histamine concentrations in SSc were significantly lower than in normal controls (P < 0.02). In situ hybridization with an HDC probe revealed that the expression of the HDC gene in SSc was greater than in normal controls. The number of cells and the mean grain number per cell expressing HDC mRNA were both significantly greater in SSc than in normal controls (both P < 0.01). These results show a reduction in histamine concentration and an elevated HDC gene expression in SSc skin, indicating an increase in both histamine release and HDC gene expression. The upregulation of histamine turnover appears to be involved in the formation of the skin abnormalities of SSc.
Adult↗
p53 protein immunoreactivity in fibrohistiocytic tumors of the skin.
Abnormal expression of the 53 kDa nuclear phosphoprotein produced by the p53 gene is observed in many human cancers. p53 nuclear immunoreactivity is found commonly in tumor cells. Immunohistochemistry was performed using a monoclonal antibody, DO-7 (DAKO, Denmark; cat. no. M7001; 1:100 dilution), to investigate p53 protein immunoreactivity in a group of cutaneous fibrohistiocytic tumors that are known to be locally aggressive. The study group consisted of dermatofibrosarcoma protuberans (DFSP) (n = 14) and atypical fibroxanthoma (AFX) (n = 7). Cases of dermatofibroma (DF) (n = 16) formed the benign control group. Intense nuclear immunostaining for p53 protein was observed in 71% of DFSP and 86% of AFX. None of the dermatofibromas showed strong p53 nuclear immunostaining. Statistical analyses revealed significant differences in p53 immunoreactivity between DFSP and DF (P = 0.0001, chi 2 test) and between AFX and DF (P = 0.0001, chi 2 test). In conclusion, increased p53 protein immunoreactivity is found in DFSP and AFX but not in DF. These differences in p53 immunoreactivity suggest that increased expression of the protein may be important in the pathogenesis of the more aggressive group of fibrohistiocytic tumors.
Dermatofibrosarcoma↗
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↗
The niacin skin flush abnormality in schizophrenia: a quantitative dose-response study.
Niacin dilates cutaneous blood vessels, resulting in a pronounced skin flush in most people. The flush response to niacin is attenuated in schizophrenia, but the quantification and physiological mechanism of this abnormality have not been described in detail. It is not clear whether the mechanism involves changes in the pharmacological sensitivity to niacin, or whether there is a reduced ability of the vasculature to dilate adequately in subjects with schizophrenia. We address this question in the present study by characterizing the dose-response relationship between topically applied alpha-methylnicotinate (AMN) and cutaneous blood flow changes, which were quantified by laser Doppler flowmetry. The dose-response curve was shifted to the right in subjects with schizophrenia. The EC(50) value of AMN was significantly increased in the schizophrenia group (mean: 1.66 mM; 95% confidence interval: 1.04-2.65 mM) as compared to the control group (mean: 0.38 mM; 95% confidence interval: 0.263-0.547 mM). The blood flow responses to higher AMN doses were lower in the schizophrenics; however, there was no statistically significant difference in the extrapolated maximal blood flow response value (F(max)) between the two groups. The results suggest that the skin flush abnormality in schizophrenia primarily reflects reduced pharmacological sensitivity to niacin rather than an inadequate cutaneous vasodilatory response to the stimulus. Since vasodilatation in response to niacin requires the release of prostaglandins, the data from this study suggest that schizophrenia is associated with abnormalities in enzymes, receptors, or signal transduction mechanisms that affect the synthesis, release, or response to vasodilatory prostaglandins.
Adult↗
Hyaluronan in the nuchal skin of chromosomally abnormal fetuses.
Nuchal skin oedema at 10-14 weeks gestation, observed by ultrasonography as increased nuchal translucency (NT), is found in approximately 70% of fetuses with trisomies 21, 18 and 13 as well as those with Turner's syndrome. This study investigates the possibility that one mechanism for increased translucency is an altered composition of the skin with a higher concentration of hyaluronan; large amounts of hyaluronan can lead to excessive hydration of the extracellular matrix. We isolated the hyaluronic acid binding region (HABR) from aggrecan in the extracellular matrix of hyaline cartilage and used it in a biotinylated form in combination with a fluorescent probe as a marker for hyaluronan. Immunohistochemistry was then used to examine the nuchal skin of chromosomally abnormal and normal fetuses, obtained after termination of pregnancy. In fetuses with trisomy 21 there was a substantial increase in hyaluronan, whereas in trisomies 18 and 13 and Turner's syndrome the amount was similar to that in chromosomally normal controls. This finding suggests that hyaluronan may be implicated in the pathogenesis of increased NT in fetuses with trisomy 21, but the common phenotypic expression of increased translucency in different chromosomal abnormalities may be the consequence of other mechanisms.
Chromosome Aberrations↗
Resolution of chlorpromazine-induced cutaneous pigmentation following substitution with levomepromazine or other neuroleptics.
Eleven chronic schizophrenic patients with abnormal skin pigmentation associated with neuroleptic treatment were withdrawn from chlorpromazine (CPZ), which was replaced by levomepromazine (n = 4), trifluoperazine (n = 1) or thioproperazine (n = 1) as the sole neuroleptic, by a combination of these phenothiazines (n = 4) or with haloperidol plus pipotiazine (n = 1). Seven patients showed complete resolution of abnormal skin pigmentation over a period of 1-5 years and 4 markedly improved over 2.0-2.6 years of follow-up. Our observations suggest that neuroleptic-induced abnormal skin pigmentation is (i) predominantly, if not exclusively, a side effect of CPZ and (ii) reversible, providing that CPZ is withdrawn and sufficient time is allowed to elapse.
Adult↗
[Skin collagen abnormalities in a Japanese patient with extracranial internal carotid artery dissection followed by extracranial vertebral artery dissection].
A 41-year-old man with hypertension and hyperlipidemia who complained of left hemiparesis after a temporal headache was admitted to our hospital. A cervical MRI with gadolinium enhancement revealed an intramural hematoma is compatible with right extracranial internal carotid artery dissection. Two weeks later, he complained of sudden onset of pain in the right side of his neck. The right extracranial internal carotid artery dissection followed by the right extracranial vertebral artery dissection was diagnosed. Spontaneous cervical artery dissection (SCAD) is one of the causes of stroke in young adults. The pathogenesis of SCAD remains unknown. Minor trauma like an excessive sneeze, migraine, and connective tissue disorders such as fibromuscular dysplasia and Ehlers-Danlos syndrome are well-known as risk factors for SCAD. Pathologically skin collagen abnormalities have been seen in German patients with SCAD without clinical evidence for any specific connective tissue disorder. We examined the ultrastructural morphology of the Japanese patient's dermal connective tissue components by electron microscopy. The patient's collagen fibers contained fibrils with highly variable diameters, and there were other ultrastructural abnormalities, including flower-like fibrils and large-diameter composite fibrils. This is the first report of a case of ultrastructural abnormalities of dermal connective tissue in a Japanese patient with SCAD.
Adult↗
Lipopenia and skin barrier abnormalities in DGAT2-deficient mice.
The synthesis of triglycerides is catalyzed by two known acyl-CoA:diacylglycerol acyltransferase (DGAT) enzymes. Although they catalyze the same biochemical reaction, these enzymes share no sequence homology, and their relative functions are poorly understood. Gene knockout studies in mice have revealed that DGAT1 contributes to triglyceride synthesis in tissues and plays an important role in regulating energy metabolism but is not essential for life. Here we show that DGAT2 plays a fundamental role in mammalian triglyceride synthesis and is required for survival. DGAT2-deficient (Dgat2(-/-)) mice are lipopenic and die soon after birth, apparently from profound reductions in substrates for energy metabolism and from impaired permeability barrier function in the skin. DGAT1 was unable to compensate for the absence of DGAT2, supporting the hypothesis that the two enzymes play fundamentally different roles in mammalian triglyceride metabolism.
Acyltransferases↗
p53 protein expression in a population-based series of primary vulval squamous cell carcinoma and immediate adjacent field change.
OBJECTIVES: Our aim was to study correlations between survival, disease recurrence, and p53 protein expression in a well defined population-based series of vulval squamous cell carcinoma and immediate adjacent epithelial skin changes. METHODS: One hundred fifteen vulval squamous cell carcinoma were studied. Epithelial skin changes immediately adjacent to tumor were classified into nonneoplastic epithelial disorders (NNED) or vulval intraepithelial neoplasia (VIN). Archival specimens containing primary tumor and immediate adjacent skin were immunostained with a mouse monoclonal antibody to p53 protein. RESULTS: p53 overexpression, defined as greater than 10% nuclear epithelial staining, was observed in 68% of tumors. Tumor immunostaining did not correlate with actuarial survival or disease-free interval. p53 overexpression was associated with a nonsignificant trend toward shorter disease-free interval in those tumors with nodal metastatic disease at diagnosis (P = 0.07). The only clinicopathological variable found to correlate with p53 expression was tumor grade (P = 0.002). Immediate adjacent abnormal skin changes were associated with p53 overexpression in 32% of cases. Adjacent normal skin did not immunostain for p53, p53 overexpression was most likely to occur in adjacent epithelial changes incorporating both NNED and high grade VIN (P = 0.005). Patterns of epithelial p53 overexpression in adjacent abnormal skin were either basal or full thickness. Full thickness epithelial p53 overexpression was most likely to occur in those disorders containing VIN (P < 0.0001). Positive immunostaining of adjacent skin abnormalities did not predict local tumor recurrence. CONCLUSIONS: This study demonstrates that although vulval squamous tumor p53 expression is not of prognostic significance, distinct immunostaining patterns can be observed in immediate adjacent skin. Vulval epithelial skin disorders displaying histological features of both NNED and VIN III may contain a profile of underlying molecular change which is of significance in subsequent tumor development.
Adult↗
Lumbosacral skin lesions as markers of occult spinal dysraphism.
Early treatment of occult spinal dysraphism may prevent progressive neurological deficits. However, diagnosis is often delayed until the onset of irreversible neurological damage. A review of data from the literature and patients at Johns Hopkins Hospital suggests that lumbosacral skin abnormalities such as tufts of hair, hemangiomas, lipomas, skin tags, or pigmented nevi should alert the physician to search for occult spinal dysraphism. In the asymptomatic patient with a skin lesion, roentgenography of the lumbosacral spine is a useful screening procedure for identifying treatable underlying problems.
Adolescent↗
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↗
Abnormal sympathetic skin response in patients with autoimmune vitiligo and primary autoimmune hypothyroidism.
The sympathetic skin response was studied in 21 patients with autoimmune vitiligo or hypothyroidism or both. No response to stimulation was found in 6 patients, but 4 with both diseases showed abnormal results. Sympathetic skin response is useful in evaluating sudomotor activity of the autonomic nervous system, and it is concluded that patients with autoimmune vitiligo, autoimmune hypothyroidism and especially those with both diseases show evidence of sudomotor dysfunction.
Autoimmune Diseases↗
Clinical presentation of hypernatremia in elderly patients: a case control study.
OBJECTIVES: To assess early clinical signs and their prognostic value in elderly patients with hypernatremia. DESIGN: Prospective, case control study of 150 patients with hypernatremia matched to 300 controls. SETTING: Multicenter study including seven short- and long-term geriatric care facilities. MEASUREMENTS: Clinical assessment of hydration status at bedside, such as abnormal skin turgor or dry oral mucosa. SECONDARY OUTCOME MEASURES: 30-day mortality rate and clinical indicators (assessed at the peak of natremia) associated with mortality. RESULTS: Patients and controls were comparable in terms of drugs and underlying diseases, except for history of dementia, which was more frequent in patients than in controls. Patients were significantly more likely than controls to have low blood pressure, tachycardia, dry oral mucosa, abnormal skin turgor, and recent change of consciousness. Only three clinical findings were found in at least 60% of patients with hypernatremia: orthostatic blood pressure and abnormal subclavicular and forearm skin turgor. The latter two signs were significantly more frequent in patients with hypernatremia. Four other signs (tachycardia, abnormal subclavicular skin turgor, dry oral mucosa, and recent change of consciousness) had a specificity of greater than 79%. Using logistic regression, four signs were significantly and independently associated with hypernatremia: abnormal subclavicular and thigh skin turgor, dry oral mucosa, and recent change of consciousness. The mortality rate was 41.5% and was significantly higher in patients with hypernatremia. The status of consciousness when hypernatremia was diagnosed was the single prognostic indicator associated with mortality (odds ratio=2.3, 95% confidence interval=1.01-5.2). CONCLUSION: Most of the classical signs of dehydration are irregularly present in patients with hypernatremia. Caregivers should carefully screen any variations in consciousness, because they may reveal severe hypernatremia.
Aged↗