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PubMed1980

Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis.

A systematic, uniform evaluation of 102 patients with, or at risk for, neurofibromatosis has shown that café au lait spots (CLS), even in large numbers, may not be sufficient to diagnose this disorder, and that several other dermatologic features may provide clues to its pathogenesis. These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some CLS, hypopigmentation in surgical scars through CLS, and areolar neurofibromas in postpubertal females. Iris Lisch nodules (hamartomas) are present in 97% of postpubertal patients.

Adolescent↗
PubMed2003

Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation.

Hereditary hemochromatosis is a common inherited disorder characterized by iron overload. A single mutation (C282Y) in the HFE gene is present in 80-95% of cases in populations of northern European extraction. The disorder presents a large phenotypic heterogeneity, and its expression can be influenced by environmental factors. This 1977-2002 study aimed to identify the influence of alcohol consumption on expression of the disease. The authors retrospectively registered 378 C282Y-homozygous patients treated in a blood center of western Brittany, France. In this cohort, 33 patients reported excessive alcohol consumption (8.7%). Those subjects presented significantly increased iron parameters (serum ferritin: 1745.2 vs. 968.7 microg/liter, p< 0.0001; serum iron: 39.9 vs. 36.0 micromol/liter, p = 0.0040; transferrin saturation: 87.1 vs. 80.1%, p = 0.0071) and elevated liver enzymes (alanine aminotransferase: 66.3 vs. 41.1 IU/liter, p = 0.0003; aspartate aminotransferase: 56.2 vs. 34.9 IU/liter, p = 0.0002). Their risk of skin pigmentation was also higher (odds ratio = 3.4, p = 0.0006). Results remained unchanged after adjustment. This study provides precise quantitative data about the impact of alcohol on expression of hereditary hemochromatosis in C282Y-homozygous patients. Excessive alcohol consumption accentuates disease expression and therefore the risk of cirrhosis and cancer. Consequently, these patients should be encouraged to consume very moderate quantities of alcohol.

Adolescent↗
PubMed2005

Inhibition of skin pigmentation by an extract of Lepidium apetalum and its possible implication in IL-6 mediated signaling.

The development of effective skin-lightening agents is an increasingly important area of research aimed at the treatment of hyperpigmentation induced by UV irradiation or by medical conditions such as melasma, postinflammatory melanoderma and solar lentigo. Although some inhibit tyrosinase, identifying and understanding the mechanisms of action of other agents is an important goal if more effective pigmentation inhibitors are to be developed. We present here that an extract of Lepidium apetalum (ELA) decreased UV-induced skin pigmentation in brown guinea pigs and melanogenesis of HM3KO human melanoma cells. Interestingly, ELA did not reduce melanogenesis in HM3KO cells unless they were co-cultivated in keratinocyte-conditioned medium prepared by culturing keratinocytes with ELA. Under these conditions, ELA decreased tyrosinase mRNA and protein expression as well as melanin content via an ELA-mediated increase in keratinocyte IL-6 production which in turn was shown to decrease in the expression Mitf, a transcription factor implicated in tyrosinase gene expression and melanocyte differentiation. The results reveal that ELA may be an effective inhibitor of hyperpigmentation caused by UV irradiation or by pigmented skin disorders through a mechanism involving IL-6-mediated downregulation of Mitf rather than a direct inhibition of tyrosinase activity.

Animals↗
PubMed1991

Axenfeld anomaly in association with hypomelanosis of Ito.

Hypomelanosis of Ito is a rare neurocutaneous disorder with associated ocular, facial, dental and skeletal abnormalities. The authors describe a case of hypomelanosis of Ito occurring with anterior segment mesenchymal dysgenesis of the Axenfeld type. An attempt is made to explain many of the major features of hypomelanosis of Ito in terms of neural crest origin, and to classify the disease as a neurocristopathy.

Abnormalities, Multiple↗
PubMed1976

Human adenohypophysis in Nelson syndrome. Ultrastructural and clinical study.

The manifestations that comprise the disease known as Nelson syndrome are pituitary hyperplasia and cutaneous hyperpigmentation, which sometimes follow bilateral adrenalectomy, in patients with hypercortisolism. We present a comprehensive endocrinologic, structural study of a patient in whom the evidence obtained supports the hypotheses that: (a) the primary disorder in this form of hypercortisolism is probably hypothalamic; (b) the hyperplasia of the adenohypophysis, following adrenalectomy, is closely associated with lowered plasma cortisol levels; and (c) the cillular hyperplasia in the adenohypophysis involves primarily the corticotroph, a cell believed to be associated with the secretion of adrenocorticotrophic hormone and melanocyte-stimulating hormone.

17-Ketosteroids↗
PubMed1987

Dominant disorders with multiple organ involvement.

Diagnosis of the preceding disorders may be difficult because of their wide range of clinical expression. The genetic patterns of incontinentia pigmenti, incontinentia pigmenti achromians, and focal dermal hypoplasia are still unclear, and literature regarding this subject may be confusing. Therefore, it is necessary to observe strict clinical criteria for diagnosis of these syndromes, and genetic counseling of affected individuals and families should be undertaken with care.

Diagnosis, Differential↗
PubMed1986

Cutaneous atrophy after corticosteroid injection.

Soft tissue inflammatory disorders can be treated by regional administration of corticosteroid preparations. However, the local catabolic effects of these agents can result in cutaneous atrophy and pigmentary changes. Since all injectable steroid agents may produce these adverse effects, corticosteroids must be used judiciously. The physician must be familiar with the chosen steroid and its recommended dosage.

Adrenal Cortex Hormones↗
PubMed1993

Oral-facial characteristics of circumscribed scleroderma: case report.

Scleroderma is a rare disorder of unknown etiology. Circumscribed scleroderma is a localized focal form. It may present as well defined elevated or depressed white or yellowish patches termed "morphea," or linear bands made up of a furrow with elevated ridges on the margins described as "coup de sabre." The oral-facial characteristics of circumscribed scleroderma in a ten year old afflicted female are described in detail.

Cephalometry↗
PubMed2006

Increasing our understanding of pigmentary disorders.

This article focuses on developments in pigmentary disorders that extend dermatologists' understanding of the field. Areas that are reviewed include the basic biochemistry, pharmacology, and physiology of the melanocortin system; melanosome development; genetic diseases associated with pigmentary disorders; pigmentary disorders secondary to systemic disease; drug-induced hyperpigmentation; environmental exposure to chemicals; and primary disorders of hyperpigmentation such as melasma and lentigines. Basic, clinical, and epidemiological research, along with a number of clinical case reports, were included in the review. This article also reports on the new health-related quality-of-life instrument (MELASQOL) that has been developed for women with melasma.

Animals↗
PubMed1982

Erythema dyschromicum perstans and lichen planus.

Erythema dyschromicum perstans (EDP) is a cutaneous pigmentary disturbance originally considered to be a variant of erythema perstans. The nosologic identity of EDP has been challenged repeatedly as the number of patients with concurrent EDP-like eruptions and lichenoid disorders has increased. In this report, we describe a woman who had EDP for two years before the onset of classic lichen planus (LP). The active lesions of LP gradually evolved into typical ashy-gray macules of EDP. This case provides further support for the concept that EDP and EDP-like conditions should be classified, in certain instances, as erythema dyschromicum variants of LP.

Adult↗
PubMed1969

Normal and abnormal regulation of beta-msh in man.

The regulation of plasma beta-melanocyte-stimulating hormone (beta-MSH) in man has been studied utilizing a radioimmunoassay previously described (1). In normal subjects plasma beta-MSH values ranged from 20 to 110 pg/ml. Metyrapone increased and dexamethasone decreased plasma beta-MSH levels. Surgical stress stimulated beta-MSH secretion. Plasma beta-MSH levels were elevated in patients with untreated Addison's disease and untreated congenital adrenal hyperplasia, and these levels fell to normal during glucocorticoid therapy. In patients with Cushing's syndrome due to pituitary adrenocorticotropic hormone (ACTH) excess, plasma beta-MSH was slightly elevated before treatment. In those patients who developed pituitary tumors and hyperpigmentation after bilateral adrenalectomy, plasma beta-MSH was greatly elevated. In patients with Cushing's syndrome due to adrenal tumor, plasma beta-MSH was subnormal. In patients with the ectopic ACTH syndrome, the levels of plasma beta-MSH were high. Plasma beta-MSH had a diurnal variation in normal subjects, patients with Addison's disease, and patients with congenital adrenal hyperplasia; but the normal diurnal variation was lost in patients with Cushing's disease. In patients with high plasma beta-MSH, simultaneous determinations of plasma ACTH showed close correlation between the degree of elevation of ACTH and that of beta-MSH. In extracts of tumors from patients with the ectopic ACTH-MSH syndrome the quantities of the two hormones were roughly equivalent. In patients with hyperpigmentation due to a variety of disorders other than pituitary-adrenal abnormalities, plasma beta-MSH was normal. It is concluded that the secretion of beta-MSH is regulated by the same factors that regulate ACTH.

Addison Disease↗
PubMed1995

In vivo observation of magnified features of pigmented lesions on volar skin using video macroscope. Usefulness of epiluminescence techniques in clinical diagnosis.

BACKGROUND AND DESIGN: In vivo epiluminescence microscopy is now used as a useful noninvasive method for determining clinical diagnosis of pigmented skin lesions. Until now, however, pigmented lesions on the volar skin have been hardly studied with this method. In the present epiluminescent study, various kinds of pigmented lesions on the volar skin were extensively investigated by means of video macroscope, a newly developed electronic device with a higher magnification power, and correlation between the magnified features and histopathologic findings was evaluated. RESULTS: Magnified features of most lesions of acquired or congenital melanocytic nevus on the volar skin were classified into the following three typical patterns: (1) a parallel pattern formed by pigmented parallel lines corresponding to the furrows of the skin markings, (2) a latticelike pattern composed of pigmented lines along and across the furrows of the skin markings, and (3) a fibrillar pattern formed by densely packed, fibrillar pigmented lines arranged in the direction crossing the furrows. In contrast, macular or plaque portions of acral lentiginous melanoma exhibited disorderly arranged, irregular pigment patterns, mainly affecting the ridges of the skin markings. In addition, brown globules of various shades and many black dots of variable sizes were often observed and, on the margin of the lesions, pseudopods and/or the "serrated" pattern were detected. Cutaneous hemorrhagic macule and so-called black heel showed highly specific features and thus could be easily diagnosed with video macroscopy. CONCLUSION: Video macroscope proved to be a very useful instrument for the diagnosis of pigmented lesions on the volar skin.

Equipment Design↗
PubMed2004

Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China.

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11.6-cM interval on chromosome 1q11-21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but most of them are described in Chinese. OBJECTIVES: To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China. METHODS: We performed genotyping and linkage analysis using polymorphic microsatellite markers at 1q11-22 in two Chinese DSH families, and reviewed all of the DSH cases reported in China since 1980. RESULTS: A cumulative maximum two-point lod score of 3.68 was produced with marker D1S506 at a recombination frequency of theta = 0.00 in these two families. Haplotype analysis refined the DSH locus to a 9.4-cM interval flanked by D1S2343 and D1S2635. The genetic and clinical features of Chinese cases with DSH were summarized. In some Chinese cases, hyperpigmented and hypopigmented macules were scattered on the neck and chest, but among Japanese patients there were no similar skin lesions to be reported on these sites. CONCLUSIONS: This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9.4-cM interval at 1q21-22. Likewise, the literature review indicates that DSH is not an uncommon disorder in China and the differences in the distribution of skin lesions could be related to race and environment.

Adult↗
PubMed1992

Prenatal diagnosis of severe dermatologic diseases.

It is obvious that the nature of prenatal diagnosis of severe or lethal skin conditions is rapidly evolving. New molecular, enzymatic, and ultrastructural markers will become available. The biochemical base of many of these disorders will become known and the accuracy and utility of in utero diagnosis will improve. We wish to make one point again. The field is rapidly outpacing the ability of review articles to keep current. We urge you to refer to a genetic center for information when you are dealing with a situation in which prenatal diagnosis may be an issue.

Amniocentesis↗
PubMed1992

Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Dyskeratosis congenita is an inherited disorder characterized by nail dystrophy, skin pigmentary changes, mucosal leukoplakia, pancytopenia and an increased incidence of malignancy. Because of a widely held view that the outcome of bone marrow transplantation in dyskeratosis congenita is poor, this treatment option is sometimes not considered when pancytopenia develops. We present a child currently doing well 3 years after bone marrow transplantation, and review the literature.

Bone Marrow Transplantation↗
PubMed1988

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

We describe three patients with the cutaneous manifestations of hypomelanosis of Ito. Two, with unusual abnormalities of their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts. The published clinical descriptions of hypomelanosis of Ito and diploid-triploid mosaicism are reviewed. Chromosome heteromorphisms, HLA types, and DNA fingerprints were studied in an attempt to elucidate the origin of the disease in our patients. We conclude that hypomelanosis of Ito is a manifestation of a heterogeneous group of disorders, the common factor being the presence of two genetically different cell lines. It can result from chromosomal mosaicism or chimerism, from a postzygotic mutation, or from X inactivation. The risk of recurrence is negligible if the proband is a male; if the proband is female the risk is also low but an X linked mutation must be considered.

Chimera↗
PubMed1996

Case report: gastric carcinoma as a complication of dyskeratosis congenita in an adolescent boy.

Dyskeratosis congenita (DC), or the Zinsser-Engman-Cole syndrome, is a rare X-linked heritable disorder, affecting primarily the ectodermal tissues, with hyperpigmentation of the skin, leukoplakia of the buccal and anal mucosa, and nail dystrophy (1, 2). Aplastic anemia (3) and a variety of neoplasms (4, 5) are some of the extraectodermal manifestation of this disorder, which although X-linked recessive, has also been described in a few females (6, 7). Mental retardation, diarrhea, and gastrointestinal bleeding have been considered to be less frequent features (8). We report an adolescent Indian male who presented with all the ectodermal manifestations, as well as mental retardation, bone marrow aplasia, and gastrointestinal hemorrhage secondary to adenocarcinoma of the stomach.

Adenocarcinoma↗
PubMed2006

Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K) and c.2848 C > T (Q950X) in the DSRAD gene identified in two Chinese pedigrees with DSH. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.

Adenosine Deaminase↗