Gustatory sweating following submandibular gland excision.
A case of gustatory sweating and abnormal skin wrinkling following excision of the submandibular gland is described. The possible aetiology and treatment are outlined.
Adolescent↗
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Primary hypertrophic osteoarthropathy.
We describe seven patients with primary HOA and review 125 cases reported in the English, French, and German literature. The salient clinical features of primary HOA are: a bimodal distribution of disease onset with one peak during the first year of life and the other at age 15, a male predominance (nine to one), uncommon benign joint effusion, and a variety of skin abnormalities resulting from cutaneous hypertrophy or glandular dysfunction. We concluded that HOA is not a synovial disease. It is suggested that synovial effusions, when present, are perhaps a sympathetic reaction to the neighboring periostitis. Proposed diagnostic criteria for HOA, including digital clubbing and radiographic periostitis, appear 86% sensitive. The clinical features, age of onset, and sex distribution suggest that a genetically controlled growth promoting factor, different from growth hormone, plays a role in the pathogenesis of this syndrome.
Adolescent↗
Compared expression levels of ornithine transcarbamylase and carbamylphosphate synthetase in liver and small intestine of normal and mutant mice.
Enzymatic assay, electrophoretic immunoblotting and RNA dot-blot techniques were employed to investigate the expression of the ornithine transcarbamylase (OTC) gene in liver and small intestine of Sparse fur mice with abnormal skin and hair (Spf-ash) and Sparse fur mice (Spf) which exhibit an X-linked OTC deficiency. We found a reduced OTC activity in these two tissues. We now show that this reduction is less pronounced in the intestine than in the liver of the Spf-ash strain. During the first 2 weeks of life, the deficiency appears to be less severe than in the adult mice. The enzymatic activity of carbamylphosphate synthetase I (CPS), another enzyme of the urea cycle, is significantly modified in the Spf mutant strain only.
Animals↗
Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.
Enzymatic activities and kinetics of liver ornithine transcarbamylase (carbamoylphosphate:L-ornithine carbamoyltransferase) were studied in 16 human males with ornithine transcarbamylase mutations. In the same liver fragments, cross-reactive material was measured with specific anti-ornithine transcarbamylase antibody. These studies allowed us to describe five groups of mutations. Two of them were similar on the basis of their enzymatic properties and cross-reactive material amounts to two mouse ornithine transcarbamylase mutations:sparse-fur (spf) and sparse-fur with abnormal skin and hair (spf-ash).
Ammonia↗
Clinical characteristics and management of diabetic patients residing in a nursing home.
In 38 diabetic patients, admitted on a long-term basis to a nursing home, the clinical situation and presence of secondary diabetic complications were assessed, and their macrovascular complications and degree of glycemic control compared with those in ambulatory diabetic patients, matched for age, sex, known duration of diabetes and specific antidiabetic therapy. No differences in blood glucose control, plasma triglycerides, blood pressure and serum creatinine were observed between both groups of patients. Plasma cholesterol levels were higher in the ambulatory patients (6.4 +/- 1.0 vs 5.6 +/- 1.1 mmol/l, P = 0.008). Twenty-two nursing home patients had suffered from stroke, against 4 ambulatory patients. Hypertension was found in almost 50% of all patients, whereas its prevalence was highest in the stroke patients (69 vs 36%, P less than 0.01). In the nursing home patients, peripheral vascular abnormalities, skin necrosis or leg ulcers and recurrent urinary tract infections were frequently encountered, whereas in the ambulatory patients cardiac complaints were more prevalent. Use of medication, especially diuretics and anticoagulant agents, was higher in the nursing home patients. Diabetes and the sequelae of its macrovascular complications may greatly impair the quality of life of the diabetic patient, and place a large financial and personal burden on the health care in general. Better identification of diabetic patients with a high risk of stroke is necessary.
Aged↗
Treatment of severe lichen planus with cyclosporine.
Two patients with severe chronic lichen planus were successfully treated with oral cyclosporine (6 mg/kg/day). A response was noted within 4 weeks, and complete clearing was achieved after 8 weeks of treatment. No significant adverse effect was noted. The patients have remained in remission 3 and 10 months after therapy, respectively. Clinical improvement was accompanied by significant reduction in the T cell infiltrate in the skin. Abnormal expression of keratinocyte intercellular adhesion molecule-1 (ICAM-1), which was present before therapy, became undetectable after 1 week of cyclosporine therapy, before any significant clinical and histologic change.
Adult↗
Tumor of the follicular infundibulum: a clinicopathologic study.
BACKGROUND: Tumor of the follicular infundibulum (TFI) is a rare benign adnexal tumor that has characteristic histopathologic features. OBJECTIVE: Our purpose was to describe the clinical and pathologic features of 12 patients with TFI. METHODS: Of 121,500 cutaneous biopsy specimens recorded between 1981 and 1993, all TFIs were identified and examined by conventional microscopy. The clinical and histologic findings were compared with those of previously published cases. RESULTS: Of the 12 patients, seven had a solitary tumor, two had eruptive TFI involving the face, and three TFIs were incidentally discovered in association with nevus sebaceus or fibroma. TFI-like changes were also observed in the wall of a hybrid cyst. The most discriminating features of TFI were the horizontal platelike organization of the tumor and the dense elastic network beneath the tumor. Of the different forms of TFI, only eruptive tumors can be clinically identified because they are small hypopigmented macules. CONCLUSION: We classify TFIs as (1) solitary tumors, (2) eruptive tumors, (3) TFI associated with other lesions of Cowden's disease, (4) TFI associated with a single tumor such as nevus sebaceus, and (5) TFI-like epidermal changes.
Adenoma↗
Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia.
Two siblings are reported with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, generalized hypotonia, absent reflexes, and progressive neurologic deterioration. Although this disorder shares clinical features with an ectodermal dysplasia syndrome with neurodegenerative changes, no specific neuropathologic findings were present. Instead, trichorrhexis invaginata was found in some hair shafts. Hair analysis may be helpful in classifying clinically confusing neurologic conditions.
Abnormalities, Multiple↗
Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene.
We report the effect of the ornithine transcarbamylase (OTC) transgene composed of 1.3 kb of the 5' flanking region of the rat OTC gene fused to rat OTC cDNA on urinary orotic acid excretion in OTC-deficient spf-ash (sparse-fur with abnormal skin and hair) mice during overnight-starvation and nitrogen loading. During starvation, spf-ash mice with about 6% and 2% of control levels of OTC activity in the liver and small intestine excreted a large amount of orotic acid in the urine. Transgenic spf-ash mice with about 10% and 30% of the control OTC activities in the liver and small intestine did not excrete more than the normal level of orotic acid. Accidental parasitization of transgenic spf-ash mice with ticks (Myocoptes musculinus) resulted in decrease of the OTC activities in the liver and small intestine to the levels in spf-ash mice, and increased excretion of orotic acid. During extermination of the ticks, the mice showed varied levels of OTC activity and orotic acid excretion. On nitrogen loading, transgenic spf-ash mice as well as spf-ash mice excreted larger amounts of orotic acid, while control mice showed no increase in its excretion. The levels of urinary orotic acid were inversely correlated to the logarithms of the OTC activities in the liver and small intestine, the correlation being significantly higher with intestinal OTC than with hepatic OTC activity. These results suggest that the level of OTC activity in the small intestine is important for production of orotic acid.
Animals↗
Voriconazole treatment for subacute invasive and chronic pulmonary aspergillosis.
BACKGROUND: Voriconazole is a novel triazole antifungal with a broad spectrum including Aspergillus species. We conducted an open, noncomparative multicenter study to evaluate the efficacy and safety of voriconazole in subacute invasive and chronic pulmonary aspergillosis (CPA). METHODS: Patients without profound neutropenia and a proven or probable diagnosis of subacute invasive aspergillosis (IA) or CPA received voriconazole 200 mg twice daily for a period of 4-24 weeks as primary or salvage therapy. Dose escalation was allowed if efficacy was suboptimal, and toleration and safety were satisfactory. Response was assessed by clinical, radiological and mycological changes. A complete or partial response in subacute IA and improved or stable in CPA were assessed as favorable responses. RESULTS: Of 39 patients treated, 36 were assessable. The majority of patients had subacute IA (n = 21), proven in all 11 extra-pulmonary and in 23/25 (92%) of the pulmonary cases. Voriconazole was given as primary therapy in 22 (61%). All patients receiving salvage therapy (n = 14) had refractory IA, having failed itraconazole or amphotericin B (AmB) or both. Overall, a complete or partial response was seen in 9/21(43%) of subacute IA and improved or stable in 12/15 (80%) of those with CPA. Adverse events, mainly liver function test abnormalities, skin reactions, and visual disturbances were mild and transient, leading to early discontinuation of treatment in 5 cases. CONCLUSIONS: In patients with subacute IA and CPA, voriconazole was efficacious as salvage or primary therapy.
Adult↗
Use of orthopedic shoes in patients with degenerative disorders of the foot.
OBJECTIVES: To study the actual use of orthopedic shoes by patients with degenerative foot disorders and to identify factors associated with use and nonuse, based on the parameters of the International Organization for Standardization definition of usability: effectiveness, efficiency, satisfaction, and context of use. DESIGN: Multicenter, prospective cohort study. SETTING: Outpatient clinics of 7 rehabilitation centers in the Netherlands. PARTICIPANTS: One hundred consecutive patients with degenerative foot disorders. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Usability was assessed by means of the Questionnaire for Usability Evaluation of orthopedic shoes. RESULTS: Seventy of 93 patients with degenerative foot disorders wore their orthopedic shoes for more than 3 days a week after 3 months of follow-up. Factors significantly associated with the actual use of orthopedic shoes were (1) increase in stance duration (effectiveness odds ratio [OR]=2.14; 95% confidence interval [CI], 1.19-3.85), (2) decrease in skin abnormalities (effectiveness OR=1.35; 95% CI, 1.02-1.8]), (3) problems experienced with putting on and taking off orthopedic shoes (efficiency OR=.46; 95% CI, .26-.82), and (4) cosmetic appearance of orthopedic shoes (satisfaction OR=1.54; 95% CI, 1.1-2.15). The overall fit of the multiple logistic regression model ( R 2 ) was 56.3%. CONCLUSIONS: By adding efficiency and satisfaction factors and not focusing only on the effectiveness factors, the amount of explained variance increases, and it becomes possible to evaluate and design products for people with special needs more comprehensively.
Aged↗
[Two cases of congenital varicella syndrome: plea for the varicella vaccine].
We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.
Chickenpox↗
[Breastfeeding and Cytomegalovirus infection in preterm infants. How to reduce the risks?].
In France, screening for cytomegalovirus infection (CMV) during pregnancy is not recommended in routine. The transmission of CMV through breastmilk from mothers to preterm infants is frequent (15-20%). The frequency of neuro-sensorial handicap related to congenital CMV infection in very preterm infants is not well documented. We report the case of a female infant born at 30 weeks of gestation. At 15 days, she developed cholestatic jaundice. Urine cultures were positive for CMV. Diagnostic procedure showed no other cause for jaundice. At 40 days, the infant presented with hepato-splenomegaly, purpura and abnormal skin color related to a symptomatic, secondary CMV infection, probably transmitted through breastmilk. Ganciclovir was begun for 21 days. At 12 months, she presents with normal development. This observation raises questions about breastfeeding in very preterm infants. Unexplained prematurity could reflect recent infection or reactivation in the mother. Thus, because of the well-known risks of prematurity on one hand, and CMV infection on the other, we suggest that detection of CMV seropositive mothers should be considered before allowing breastfeeding. If the mother has serologic evidence of recent infection or reactivation, freezing breastmilk at -20 degrees C for 3 days may be an option in order to reduce virolactia, especially during early lactation. This may reduce the risk of postnatal vertical virus transmission with minimal logistical difficulties and without interrupting breastfeeding.
Breast Feeding↗
Body dysmorphic disorder.
Body dysmorphic disorder is a relatively common psychiatric disorder among the dermatology patient population. These individuals may present to dermatologists for treatment of normal or minimally abnormal skin findings. Recognizing that these patients have body dysmorphic disorder can avert unnecessary and potentially unsuccessful treatments. Understanding and directing patients toward appropriate treatment options can minimize the distress and morbidities associated with the disorder.
Body Image↗
Laser surgery: an approach to the pediatric patient.
UNLABELLED: Revolutionary advances in laser research and technology have led to expanded dermatologic laser applications. With the wide range of lasers now available, a large spectrum of skin conditions in the pediatric population can be successfully treated or, in some cases, completely eradicated. Laser treatment of the pediatric population poses a unique challenge for the clinician on a variety of levels. Physically, the composition of many vascular and pigmented lesions changes as children age making them more resistant to laser therapy. Thus, in many cases, treating lesions at an early age has resulted in clearing in fewer sessions and with decreased complications. Mechanically, lasers and laser settings used for the treatment of adult lesions may have to be adjusted for the smaller vessels and the unpredictable nature of scarring with children's skin. For vascular lesions, the pulsed dye laser is considered the laser of choice for its efficacy and low-risk profile, whereas the Q-switched, pigment-specific lasers are ideal for most childhood pigmented lesions, allowing for single pigment cell destruction. Other conditions such as acne and acne scars, psoriasis, keloids, warts and hypertrichosis that traditionally have been treated with a variety of modalities are now being managed safely with laser surgery. Other issues specific to the pediatric population include the determination of suitable anesthesia, the provision of size-appropriate safety equipment, and the assessment and management of patient and parent anxiety. The use of lasers specifically designed for structural differences in pediatric lesions and the recognition of emotional issues surrounding a young patient during laser surgery are critical components of successful treatment. LEARNING OBJECTIVE: At the conclusion of this learning activity, participants should be familiar with the mechanism of laser technology, current trends in the use of lasers for skin lesions in the pediatric population, and the issues specific to treating a patient with laser surgery.
Acne Vulgaris↗
The impact of different housing systems on health and welfare of grower and finisher pigs in Switzerland.
The objective of the study was to evaluate the impact of housing systems on the health and welfare of grower and finisher pigs. Forty-seven "animal friendly" farms meeting Swiss criteria and participating in a Swiss subsidy program and 37 farms using traditional housing with slatted floors were evaluated in an epidemiological field study. Group-health evaluations and individual clinical examinations were performed during four visits to each farm. Evaluation of pig behaviours associated with health and welfare were assessed through indicators including presence of lesions on the snout, ears, shoulders, legs and tail. General group-health evaluations included lameness, respiratory disease, diarrhoea, ear biting, skin abnormalities, injuries, abscesses, sunburn, recumbency, ill-thrift and behavioural abnormalities such as dog sitting and tail biting. Data on management practices, medical treatment, mortality and results of slaughter inspections were also collected, and the type of housing described. Pooled faecal samples were collected and examined for intestinal parasites. Statistical analyses included descriptive statistics of indicators of health and welfare and logistic-regression analysis accounting for group effect using generalised estimation equation (GEE). Findings indicated a high health status of pigs in Swiss finishing farms. Data from the individual clinical examination were more sensitive compared to the group-health evaluations. Both the individual clinical examination and group-health evaluation indicated that "animal friendly" housing had positive effects on health and welfare of fattening pigs.
Animal Welfare↗
Autoimmune optic neuropathy with anticardiolipin antibody mimicking multiple sclerosis in a child.
PURPOSE: To demonstrate that autoimmune optic neuropathy (AON) may occur in the pediatric population. DESIGN: Interventional case report. METHODS: A 4-year-old developed four episodes of bilateral optic neuritis with mild concurrent weakness, ataxia, or dizziness; one episode of unilateral optic neuritis; and one episode of weakness over a period of 4 years. RESULTS: Autoimmune optic neuropathy was diagnosed because of the presence of anticardiolipin antibody and an abnormal skin biopsy with thrombin and immunoreactant deposition. She was treated with corticosteroids, aspirin, and gammaglobulin. This diminished the frequency and intensity of her attacks. CONCLUSION: This case represents the diagnosis and treatment of AON in a child.
Antibodies, Anticardiolipin↗
Fixed cutaneous eruptions to seminal-plasma challenge: a case report.
Reactions to human seminal plasma may present as immediate hypersensitivity, cell-mediated hypersensitivity, or fixed eruptions. There are no typical responses to semen. An abnormal skin lesion or systemic response after intercourse may be the only clue to identifying those who are reacting to semen. The use of condoms has proven to be the most consistent preventive modality. However, the use of condoms is unacceptable to some regardless of the relief provided. Although conventional therapy for hypersensitivity reactions to human seminal plasma is suboptimal, one should be aware of MA in the treatment of an atypical cause of human seminal plasma induced reactions.
Adult↗