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PubMedDate not supplied

Fructose diet-induced skin collagen abnormalities are prevented by lipoic acid.

Nonenzymatic glycation of proteins, leading to chemical modification and cross-linking are of importance in the pathology of diabetic complications. We studied the effect alpha-lipoic acid (LA) on the content and characteristics of the protein collagen from skin of high-fructose fed rats. The rats were divided into 4 groups of 6 each. Two groups of rats were fed with a high fructose diet (60 g/100 g diet) and administered either LA (35 mg/kg b.w., i.p) (FRU+LA) or 0.2 ml vehicle (saline) (FRU) for 45 days. The other 2 groups were fed with control diet containing starch (60 g/100 g diet) and administered either saline (CON) or lipoic acid (CON+LA). The rats were maintained for 45 days and then sacrificed. Plasma glucose, insulin, fructosamine, protein glycation, and blood glycated hemoglobin (HbA1C) were measured. Collagen was isolated from skin and the physicochemical properties of collagen were studied. Fructose administration caused accumulation of collagen in skin. Extensive cross-linking was evidenced by enhanced glycation and AGE-linked fluorescence. Increased peroxidation and changes in physicochemical properties such as shrinkage temperature, aldehyde content, solubililty pattern, susceptibility to denaturing agents were observed in fructose-fed rats. SDS gel pattern of collagen from these rats showed elevated beta component of type I collagen. These changes were alleviated by the simultaneous administration of LA. Administration of LA to fructose-fed rats had a positive influence on both quantitative and qualitative properties of collagen. The results suggest a mechanism for the ability of LA to delay diabetic complications.

Animals↗
PubMed1994

Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?

A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy, make it likely that oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis.

Abnormalities, Multiple↗
PubMed2004

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.

BACKGROUND: Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues. OBJECTIVES: To determine the range of cutaneous findings in Proteus syndrome and to correlate cutaneous findings with overall disease severity. DESIGN: A prospective cohort study was performed at the National Institutes of Health, a tertiary referral center. PATIENTS: Twenty-four consecutive children and adults with Proteus syndrome meeting recent diagnostic criteria. INTERVENTIONS: Physical examination, including complete skin examination, and review of medical records. MAIN OUTCOME MEASURES: Frequency of skin findings; correlation of skin findings with extracutaneous findings; cluster analysis of findings. RESULTS: The 24 patients had skin abnormalities: 22 (92%) had lipomas, 21 (88%) had vascular malformations, 20 (83%) had cerebriform connective tissue nevi on the soles of the feet, 16 (67%) had epidermal nevi, 9 (38%) had partial lipohypoplasia, and 5 (21%) had patchy dermal hypoplasia. Some patients had localized alterations in skin pigmentation and hair or nail growth. Patients with a greater number of skin abnormalities tended to have a greater number of extracutaneous abnormalities. The number of abnormalities tended to increase with age up to 8 years. CONCLUSIONS: Patients with Proteus syndrome exhibit a variable but defined assortment of cutaneous findings. The correlation between numbers of cutaneous and extracutaneous is consistent with the postulated mosaic basis for this syndrome.

Adolescent↗
PubMedDate not supplied

[Diastematomelia (author's transl)].

21 cases have been observed and followed up for 10 years. All were children. Three types of anomaly were noted: Spinal curvature (mostly scoliosis), skin abnormalities in the mid line (hypertrichosis, angioma, skin dimples) and problems in the lower limbs (varus deformities of the feet, leg length discrepancy, muscular atrophy, neurological disorders). These signs, even if not all are present, must lead to a study of the vertebral bodies and to gas myelography whcih demonstrates a double spinal cord over a variable length from 2 to 14 segments. 15 children were treated surgically by mobilisation of the spinal cord and arthrodesis of the spine. 4 of them were made worse. In contrast, none of the 6 children treated conservately was made worse. The authors conclude that surgery should be reserved for recent spontaneous neurological deterioration and severe deformities of the spine.

Adolescent↗
PubMed1976

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↗
PubMed1997

Comparison of chemical carcinogen skin tumor induction efficacy in inbred, mutant, and hybrid strains of mice: morphologic variations of induced tumors and absence of a papillomavirus cocarcinogen.

Chemical carcinogen induction of skin tumors in mice was investigated to determine (i) if tumor induction efficacy was modified by single gene mutations, (ii) if the histologic types of the tumors varied with these mutations, and (iii) if a novel papillomavirus was involved as a cocarcinogen. A two-stage carcinogenesis protocol (7,12-dimethylbenz[a]anthracene followed by 12-O-tetradecanoylphorbol-13-acetate) was used to induce papillomas in 14 inbred, two hybrid, and 15 other genetic stocks of mice with inherited, single-gene mutations causing skin abnormalities. Histopathological, immunohistochemical, and Southern blot analyses were performed to determine tumor type and to detect the presence of papillomaviruses. The histologic types of tumors induced included early follicular papillomas, mixed papillomas, exophytic papillomas, hyperplastic papillomas, fibropapillomas, squamous cell carcinomas, and mast cell tumors. The efficacy of tumor induction was influenced by strain background, as seen by the clustering of mice into high-, intermediate-, and nonresponding groups. Similarly, tumor induction efficacy was affected by specific mutant genes that cause skin abnormalities. No evidence of papillomavirus structural antigens or viral genomic DNA was identified in 547 induced tumors. These observations indicate that numerous modifier genes but not papillomaviruses are involved in cutaneous chemical carcinogenesis.

9,10-Dimethyl-1,2-benzanthracene↗
PubMed1998

Glutathione reverses the growth abnormalities of skin fibroblasts from insulin-dependent diabetic patients with nephropathy.

Oxidative stress has been proposed as a possible pathogenic factor for diabetic complications. It is relevant in determining cell replicative capacity and life span, and in vitro antioxidant treatment is able to reverse the impaired proliferative activity of different cell types. It was recently demonstrated that cultured skin fibroblasts from insulin-dependent diabetic patients with nephropathy age prematurely and have a shorter life cell cycle. To test whether the growth phenotype of cells from patients with diabetic nephropathy was related to a lack of protection from oxidative stress, the effect of reduced glutathione (GSH) on cultured skin fibroblasts from 13 insulin-dependent diabetes mellitus (IDDM) patients with nephropathy (DN), 10 IDDM patients without kidney disease (D), and 10 nondiabetic control subjects (C), in normal (5 mM) glucose (NG) and high (22 mM) glucose (HG) medium was studied. After 6 to 8 passages, fibroblasts from DN showed impaired growth both in NG (mean +/- SD fold increase over baseline counts in DN 1.17 +/- 0.6 versus D 1.7 +/- 0.5 versus C 1.95 +/- 0.8; P = 0.04 by ANOVA) and in HG (mean +/- SD fold increase over baseline counts DN 1.16 +/- 0.41 versus D 1.89 +/- 0.66 versus C 2.24 +/- 0.9; P = 0.003 by ANOVA). GSH prevented the growth abnormalities of cells from DN restoring it to values similar to that of the other two groups (mean +/- SD fold increase over baseline counts NG +/- GSH: DN 1.68 +/- 0.9 versus D 1.78 +/- 0.49 versus C 1.99 +/- 0.7, P = 0.6; and in HG + GSH: DN 1.66 +/- 0.69 versus D 1.87 +/- 0.75 versus C 2.2 +/- 0.9, P = 0.3). Growth rates were not affected by the addition of GSH in fibroblasts from D and C. The treatment of fibroblasts from D and C with the inhibitor of the gamma-glutamylcysteine synthetase activity, L-buthionine-S,R-sulfoximine, resulted in growth impairment, and the addition to the culture medium of another antioxidant, superoxide dismutase, corrected the growth abnormalities in fibroblasts from DN. The impaired growth of cultured fibroblasts from IDDM patients with nephropathy is prevented by GSH and superoxide dismutase and is independent of prevailing glucose concentrations. This suggests that oxidative stress is an important mechanism of intrinsic cell dysfunction in these patients.

Adult↗
PubMed1985

[Cronkhite-Canada disease. Discussion apropos of a case and study of the pigmentation].

In 1955, Cronkhite and Canada described two patients presenting abnormal skin pigmentation, alopecia, onychodystrophy and gastrointestinal polyposis. In the first French case reported here, the skin pigmentation has been the object of a special electron microscope study. M. E..., 48-year old, developed, in 1968, pigmented maculae with a metallic gloss around his pelvic girdle. The melanoderma rapidly expanded, associated with fall of hair, body hairs and eyebrows. Onyxis and perionyxis of the right thumb, milium-like epidermal cysts, tumoral lesions of the keratoacanthoma type on the nose and scrotum and, chiefly, generalized cockade-like bullous erythema associated with buccal erosions soon completed the clinical picture. The bullae were subepidermal, and direct and indirect immunofluorescence tests revealed the presence of antibodies directed against the basal membrane area. A few years later, a gastrointestinal syndrome developed progressively, consisting of liquid diarrhoea (8-10 stools per day) with deterioration of the patient's general condition and loss of weight leading to cachexia and, ultimately, death. During periods when the gastrointestinal symptoms regressed the general condition improved, hair and hairs started growing again and pigmentation was less pronounced. Examinations of the digestive tract discarded a malabsorption syndrome. Endoscopy revealed the presence of false polyps with paved appearance of the colonic and rectal mucosae. The mucosa was congested, inflamed and strewn with ulcerations. Histology showed signs of acute proctitis. The abnormal skin pigmentation was the object of histological and ultrastructural analysis. Under the light microscope the epidermis was thicker than normally with increased melanin content. There was marked pigment leakage with numerous melanophages. At electron microscopy the melanocytes, more numerous, showed increased melanogenic activity.(ABSTRACT TRUNCATED AT 250 WORDS)

Alopecia↗
PubMed2000

Pathogenesis of retinoic acid-induced abnormal pad patterns on mouse volar skin.

BACKGROUND: Abnormal dermatoglyphs on human volar skin have been reported in many syndromes, but little is known about the pathogenesis. Patterns of pads on rodent limb volar skin are homologous to human dermatoglyphs. METHODS: In previous studies, we showed that transplacental exposure to teratogens induced abnormal pads in mouse fetuses. Moreover, teratogens caused abnormal pad patterns at levels below those that caused skeletal malformations. In this study, we examined morphology and cytokinetics in developing abnormal pads. Pregnant mice were treated with all-trans-retinoic acid at 20 mg/kg orally at embryonal day (E) 12.5 (vaginal plug = E0). The hindlimbs of the embryos were harvested and observed under a light microscope and by scanning electron microscopy. Cell proliferation and cell death were estimated by 5-bromo-2'-deoxyuridine (BrdU) labeling, Nile blue A vital staining, and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL). RESULTS: Retinoic acid induced aplasia of the fibular tarsal pad and supernumerary interdigital pads on hindlimbs. Cell proliferation was observed in the area of developing pad, but cell death was very rarely seen in either normal or abnormal pads. CONCLUSIONS: Retinoic acid disturbed pad patterning as a whole rather than individual pad formation.

Abnormalities, Drug-Induced↗
PubMed1990

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↗
PubMed1991

Abnormal sympathetic skin response in alcoholic subjects.

Although the impairment of autonomic function has been described in alcoholic subjects, there is no evidence for such a dysfunction to be due to damage of autonomic centers or peripheral small caliber fibers. To investigate the function of peripheral fibres of the autonomic nervous system, we have carried out an electrophysiological study of the sympathetic skin response (SSR) in the hands and feet in 70 alcoholic and in 33 non-alcoholic subjects. In the hand, SSR recordings were done simultaneously in the palm and finger tip by stimulating the median nerve at the wrist. A conventional electrophysiological study performed in the same patients was used to classify them according to the presence or absence of electrophysiological criteria for peripheral polyneuropathy (ECPN). In analyzing the results of the SSR test, we found absent responses in the finger tip with present responses in the palm in 18 patients, 13 of them with ECPN. Absent responses in the feet were observed in 37 patients, 28 of them with ECPN. From our findings, it is concluded that alcoholics suffer from a dysfunction of sympathetic sudomotor activity due to axonal involvement of the most distal segments of the nerves.

Adolescent↗
PubMed1995

Reflex sympathetic dystrophy: changing concepts and taxonomy.

We present a revised taxonomic system for disorders previously called reflex sympathetic dystrophy (RSD) and causalgia. The system resulted from a special consensus conference that was convened on this topic and is based upon the patient's history, presenting symptoms, and findings at the time of diagnosis. The disorders are grouped under the umbrella term CRPS: complex regional pain syndrome. This overall term, CRPS, requires the presence of regional pain and sensory changes following a noxious event. Further, the pain is associated with findings such as abnormal skin color, temperature change, abnormal sudomotor activity, or edema. The combination of these findings exceeds their expected magnitude in response to known physical damage during and following the inciting event. Two types of CRPS have been recognized: type I, corresponds to RSD and occurs without a definable nerve lesion, and type II, formerly called causalgia refers to cases where a definable nerve lesion is present. The term sympathetically maintained pain (SMP) was also evaluated and considered to be a variable phenomenon associated with a variety of disorders, including CRPS types I and II. These revised categories have been included in the 2nd edition of the IASP Classification of Chronic Pain Syndromes.

Causalgia↗
PubMed1982

Tzaraat--"biblical leprosy".

Tzaraat refers to a group of skin diseases that, according to the Old Testament, renders one ritually unclean. Analysis of the text reveals that there are four categories of lesions discussed. Each category has a primary lesion as well as specific secondary changes. The primary lesions include depigmented lesions on previously healthy skin, lesions on previously abnormal skin, lesions on areas of diffuse alopecia, and lesions of localized alopecia. It is unlikely that these diseases have a modern-day counterpart.

Alopecia↗