Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation.
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A method of repigmenting some leukodermas by transplantation of minigrafts of normally pigmented, autologous skin into them is described. Such grafts in addition to retaining their pigment stimulate repigmentation around them by migration of melanocytes and spread of pigment from the grafts. Three patients, one with piebaldism, another with leukoderma from monobenzyl ether of hydroguinone, and a third with depigmentation following healing of a burn enjoyed successful and cosmetically acceptable repigmentation from practice of the method.
A case characterized by a dark pigmentation of the skin with an initial hypotension and a lung tuberculosis in the remote anamnesis is described. The skin pigment was formed by lipofuscin and emosiderin, but only the former was found in the liver biopsy. Anyway, the pigment was not melanine and the surrenalic function of the patient was completely normal; therefore, an Addisonism syndrome is excluded. The patient was treated for a very long time with DOCA: this caused hypertension, probably supported by the hypervolemia triggered by the DOCA depending retenction of sodium and water. A sure diagnosis of the case was not made, but an Addisonism syndrome was certainly excluded.
Pathological features of twenty-one cases of malignant melanoma studied in the University of Nigeria Teaching Hospital, Enugu during the period January, 1974 to December, 1975 are presented. Malignant melanoma accounted for 2.4% of all tumours and 4.5% of all malignant tumours, greatest age incidence being in the fifth to seventh decades. The male to female sex ratio was 2:1. 73.2% of cases were of the nodular variety. 81% melanomas occurred on the sole of feet validating the hypothesis that the pigmented skin in Africans is resistant to malignant melanoma. Melanoma in Nigerians would appear essentially to be arising from epidermal melanocytes and not from preexisting naevus cells. Hence we do not feel prophylactic removal of plantar moles as suggested by Onuigbo (1975) is desirable. Histologically, there was no clear association between the cell types and the kind of melanoma or invasion of the tumour. The difference in behaviour and natural history of malignant melanoma would appear to have a bearing on the local tissue and also general immune mechanisms of the host.
We carried out ultrastructural studies on the epidermal melanocytes in human skin autografts, before and after transplantation. On comparing the results with those described in our previous paper, the present findings are in accord with those light microscope findings. As we suggested earlier, the degree of pigmentation in a skin graft is probably due not only to quantitative changes in the transfer and formation of melanosomes, but also to the distribution, the degradation pattern, and the size of the melanosomes within the keratinocytes. Rupture of lysosomes, as a consequence of transplantation, may also contribute to the pigmentation of the skin graft.
The case history is presented of a woman with acquired lesions in the axillary, submammary, intermammary, inguinal, genitocrural and perianal skin folds. These lesions were confluent pigmented macules, giving rise to extensive (en nappe) reticulate patches. History revealed changes typical of seborrhoeic wart. The name patchy (en nappe) seborrhoeic wart is suggested for this condition.
When Royal College of Surgeons (RCS) rats are bred with Wistar albinos the offspring are deeply pigmented and have normally functioning retinas. From this second generation, various breeding possibilities exist. In the course of successive cross-breedings one can obtain albinos, tan striped (RCS type) or pigmented animals, any one of which may be normal, carrier or affected. The skin pigmentation trait and that of retinal degeneration are independently inherited and follow autosomal recessive Mendelian laws. However normals for ERG studies vary with skin pigmentation. It is suggested that only one group should be chosen and preferably the pigmented variety.
The principal factors in the incidence of melanoma are racial susceptibility, skin pigmentation and latitude of domicile. Celts, Norwegians and Swedes all have higher incidences of melanoma than people of similar skin colour living in the same latitude. Skin pigment protects but the pigmented races have higher incidences of melanoma in the less pigmented regions such as the sole of the foot and the various squamous mucosae. There is a direct relationship with latitude of residence and its duration, melanoma incidence being higher with proximity to the equator. Apart from these racial and environmental factors, there seem also to be endogenous factors responsible for familial melanoma and for the development of melanoma in young persons. Multiplicity of primary growths is a feature in familial cases.
A 59-year-old woman with previously documented alkaptonuria was examined for extensive ochronosis of recent onset. The cause of the extensive skin pigmentations were thought to be secondary to decreased renal clearance of homogentisic acid because of a decline in the patient's renal function. If extensive or rapidly progressive skin pigmentation is noted in a patient with alkaptonuria, then evaluation of the patient's renal status should be done because unrelated renal disease has been reported in patients with severe ochronosis.
The present paper reports a study on a case of follicular mucinosis exacerbated by sunlight exposure. Provocation with standardized light testing was carried out on both normally pigmented skin and on areas of hypopigmentation representing a residual state after earlier skin lesions but without any signs of active mucinosis follicularis. Typical clinical and histologically verified lesions were provoked by the light test procedure, best seen in hypopigmented areas but with similar changes in normally pigmented skin. Characteristic findings developed gradually, assuming an appearance identical with that of the observed spontaneously elicited lesions after 3--4 weeks. Treatment with carotenoids periodically over several years has provided a proper light protective effect, as only minimal lesions have been noted during these periods, compared with extensive changes during similar periods without treatment.
Pinealectomy leads to increased formation of fibrous tissue in the abdominal cavity, increased skin pigmentation and elevated cholesterol and alkaline phosphatase levels. It also leads to reduced formation and/or action of prostaglandin (PG) E1 and thromboxane (TX) A2. PGE1 plays an important role in enhancing function of T suppressor lymphocytes which control overactive antibody-producing B lymphocytes. In primary biliary cirrhosis there are increased skin pigmentation, hepatic fibrosis, elevated cholesterol and alkaline phosphatase levels, defective T lymphocytes and hyperactive B lymphocytes. Primary biliary cirrhosis may be a pineal deficiency disease. Serotonin is important in the pineal and the serotonin antagonist methysergide may cause retroperitoneal fibrosis by interfering with pineal function. There is a good deal of other evidence which suggests that melatonin PGE1 and TXA2 are important in the regulation of fibrosis in other situations such as "collagen" diseases, lithium-induced fibrosis and cardiomyopathies. This suggests that enhancement of formation of PGE1 and TXA2 may be of value in diseases associated with excess fibrosis and defective T suppressor cell function. PGE1 levels may be raised by zinc, penicillin, penicillamine and essential fatty acids. TXA2 levels may be raised by low dose colchicine. These new approaches to treatment may prove safer and more effective than existing ones. They may be of value in disorders such as cardiomyopathy, Hodgkin's disease and other lymphomas, multiple sclerosis, Crohn's disease, atopy and other diseases in which defective T cell function is suspected.
A case of Waardenburg-Klein syndrome associated with a Hodgkin's disease is reported in a 29 year old female. Such an association seems to be fortuitous. The authors discuss the dermatological aspects of this rare disease, particularly the disturbances of cutaneous pigmentation. Ultrastructural study of depigmented skin indicates the melanocytes are absent and precise the place of this depigmentation in the group of genetic abnormalities of skin pigmentation.
98 workers at a glass-wool factory were divided into three comparable groups: those with persistent troublesome itching from the fibres, those without itching, and those who had become 'hardened' to the itching. The three groups were compared with respect to the results of patch testing with glass fibres and six chemical irritants, a rubbing test with fibres, the Trafuril test, and provocation of dermographism. Anamnestic data with respect to atopy, itching from wool and synthetic fibres, sweating, and reactions to the sun were evaluated, as also was the general skin pigmentation. No statistically significant differences between the three groups were found in respect of any of these tests or factors except for a subjectively increased sensitivity in the rubbing test with fibres for the itching group. It is possible that similar itch-provocation tests might be useful for pre-employment assessment to predict severe occupational itching from glass fibres.
The authors reported in 1972 a statistical study based on 501 cases of malignant melanoma. As continouous study this review was carried out on 456 cases of melanoma which were reported during six years between 1970 and 1976. These two studies showed quite similar results as follows: (1) Yearly incidnece of malignant melanoma indicated a definite upward trend and the average number of patients was 71.1 per year. (2) Distribution by age showed one peak in the seventh decade. (3) Sex ratio was 1.1: 1. (4) The number of cases per total population in Japan showed great increase in over fifth decades and two peaks in the 7th and 8th decades. (5) Average age of the onset of all melanoma was 51.6 years old, while, that of brain and spinal cord melanoma was 25.4 years old. In the skin melanoma with preexisting pigmented skin lesions, the median age of the onset of primary melanoma on the foot was 38.7 years old and that of originated melanoma except foot was 65.9 years old. (6) Incidence of the melanoma was high in the sole considering the number of melanocytes per unit skin area.
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Clinical improvement in pigmentation is frequently observed after kidney transplantation. However, the underlying molecular and histological mechanisms remain unclear. We conducted a study to quantify the skin color change using a handheld reflected light colorimeter and to investigate protein expression changes in the skin before and after kidney transplantation. Paired skin biopsies were obtained from three patients who underwent kidney transplantation before and one month after transplantation. Protein expression was analyzed using iTRAQ-based quantitative proteomics. Differentially expressed proteins were identified and visualized using hierarchical clustering and volcano plots. Histopathological evaluation included hematoxylin and eosin (H&E), Masson's trichrome, and immunohistochemical (IHC) staining for keratin (KRT) 7, KRT19, and MelanA. Skin pigmentation of the arms, ankles, and abdomen had significant L-value improvement after kidney transplantation. Proteomic profiling identified 2148 proteins, with six proteins showing significant differential expression after transplantation. Among them, KRT7, KRT19, and prostaglandin D2 synthase (PTGDS) were significantly downregulated, potentially reflecting reduced epithelial stress and systemic inflammation. H&E and Masson's trichrome staining revealed a post-transplantation reduction in dermal pigmentation and collagen content. IHC showed decreased KRT7, KRT19, and MelanA expression after transplantation. Our results suggest that targeting KRT or prostaglandin pathways may offer new treatments for ESRD-related skin symptoms.
Two major and 18 minor complications in a series of 408 private patients undergoing partial or full-face phenol chemical peeling in a five-year period prompted a fundamental evaluation of several factors relevant to the procedure. Pigmentary change was the most common problem. Human skin pigment and factors that affect it such as hormone intake, cold exposure, ultraviolet light, medication, contact agents, and trauma are unanswered questions relative to at least pigmentary problems. Depigmentary factors were studied in an attempt to evaluate treatment of postoperative pigmentary changes.