1/13. Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation.We describe a woman with 15q11.2-q14 duplication who had clinical manifestations of proximal 15q trisomy and hyperpigmentation. Within this region, the P gene, located at chromosome segment 15q11.2-q12, is associated with oculocutaneous albinism type II (OCA2) and with hypopigmentation in the Prader-Willi and Angelman chromosome 15q deletion syndromes. We therefore hypothesized that in this woman skin hyperpigmentation might result from a duplication of the P gene. We carried out chromosomal and interphase fluorescence in situ hybridization (I-FISH) analyses, and determined that the P gene is duplicated in this woman. Our findings demonstrate that trisomy of the P gene can be associated with skin hyperpigmentation.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/13. Tattoo ink darkening of a yellow tattoo after Q-switched laser treatment.The popularity of tattoos is burgeoning with 20-30 million tattooed individuals in the western world. Requests for removal can be expected to rise concurrently with increased applications. Laser removal of tattoos is potentially a more cosmetically acceptable method of removing tattoos than surgical excision or dermabrasion. Nevertheless, complications and side-effects can result from laser treatment and include scarring, hypopigmentation, hyperpigmentation, partial removal, infection, bleeding and tattoo ink darkening. The latter has been reported for flesh-toned and red tattoos. Such a complication has never been reported for the laser treatment of a yellow tattoo in the dermatological literature. We describe a case of tattoo ink darkening of a yellow tattoo after treatment with the 532 nm quality-switched neodymium : Ytrrium-Aluminium Garnet laser to highlight clinicopathological features. The mechanism by which some tattoos darken after laser treatment is not clearly understood. We review darkening of tattoos after laser treatment to raise awareness of this important complication. This paper will help to facilitate discussions with the patient and in obtaining informed consent prior to commencing treatment. Tattoo ink darkening of a yellow tattoo adds to the growing list of complications resulting from attempts at tattoo removal.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/13. hyperpigmentation in chediak-higashi syndrome.We describe a 4 1/2 -year-old Saudi Arabian boy born to consanguineous parents who was initially seen with gradual onset of fever and abdominal distention. The patient was found to have speckled hypopigmentation and hyperpigmentation of the sun-exposed areas. The finding of large cytoplasmic granules in blood and bone marrow leukocytes established the diagnosis of chediak-higashi syndrome. We review the literature on this finding, which might be underreported, especially in darkly pigmented races.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/13. A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, cafe au lait spots, failure to thrive, mental retardation and typically with a terminal deletion of the long arm of chromosome 15. We report a 2.5 year old girl showing normal growth and development, large hyperpigmented skin changes showing hypopigmentated areas inside, multiple cafe au lait spots and premature graying-like hypopigmentation of scalp hair. She had a karyotype of r(15) in peripheral lymphocytes and fibroblasts. By FISH analysis the breakpoint was located distal to locus D15S936 (15q26.3) and within 300 kb of the end of the chromosome, indicating no deletion of functional genes on 15q. hyperpigmentation and cafe au lait spots are rare signs in ring chromosome syndromes, but with r(15) syndrome, cafe au lait spots have been described in about 30% of patients and have been considered to result from the deletion of gene(s) on distal 15q. Based on the frequent observation of patchy hyperpigmentation with the r(15) syndrome, absent hyperpigmentation in cases of distal 15q deletion without a ring chromosome, and the telomeric breakpoint location in our patient indicating no significant deletion, we propose that the cutaneous hyperpigmentation and cafe au lait spots in our proband represent effects of the r(15) chromosome but are not caused by the deletion of specific gene(s) on distal 15q. Patchy skin hypopigmentation is a well known nonspecific sign in cytogenetic mosaicism which is commonly seen in ring syndrome.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
5/13. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and prader-willi syndrome (PWS) or angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY, idic(15)(pter-->q14::q14-->pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
6/13. Reticulate hyperpigmented scleroderma: a new pigmentary manifestation.Scleroderma is a systemic disease with a myriad of cutaneous manifestations. Pigmentary disturbances have been described in scleroderma. While diffuse generalized hyperpigmentation and localized hypopigmentation with perifollicular hyper-pigmentation are well recognized, a vascular induced hyperpigmentation has only been recently described. In this paper, we report another unrecognized pigmentary abnormality in a 48-year-old patient who presented with a reticulate hyper-pigmentation affecting the trunk, upper and lower limbs. To our knowledge, cutaneous hyperpigmented reticulate scleroderma has not been reported previously.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
7/13. Dyschromatosis universalis hereditaria: two cases in a Chinese family.Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62-year-old woman who had a generalized and progressive hyper- and hypopigmentation of the skin from the age of 8 years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of melanocytes. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of DUH remains unclear.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
8/13. Familial gigantic melanocytosis.BACKGROUND: Familial gigantic melanocytosis (FGM) is a rare disorder first described in 1984 and termed "familial melanopathy with gigantic melanocytes". The cause of the disorder is still unknown. melanocytes in both hyper- and hypopigmented skin seem to be unable to deliver melanin to the surrounding keratinocytes. OBJECTIVE: In this study, we report four new cases of FGM. Electron microscopic examination was performed in a trial to shed more light on the underlying defect in this disorder. patients AND methods: patients were examined clinically and biopsies were taken from both hyperpigmented and hypopigmented areas, and divided into two parts; one part was processed for routine microscopic examination with hematoxylin and eosin and Masson Fontana stains. The other portion of the biopsy was fixed in glutraldhyde 3% and processed for electron microscopic (EM) examination. RESULTS: By light microscopy, the patients' skin showed areas of hyperpigmented basal cells alternating with poorly pigmented areas. hair follicles in the scalp biopsies showed the same pathology. By EM, pigmented areas showed gigantic melanocytes and heavily pigmented keratinocytes. Nonpigmented areas showed poorly pigmented keratinocytes and fewer, but also gigantic melanocytes. CONCLUSIONS: The raindrop-like hypopigmentation in this disorder can be explained by a failure of melanocytes to deliver melanin to their surrounding keratinocytes. The cause of the presence of heavily pigmented keratinocytes in the hyperpigmented zones could not be determined. There is a strong possibility of a more widespread abnormality affecting not just the melanocytes.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
9/13. Brown papules and leukoderma in Darier's disease: clinical and histological features.We report a Japanese case of Darier's disease with brown and white papules or maculae distributed on the neck, trunk and dorsa of hands. Both brown papules and leukoderma showed typical histological features of Darier's disease. Moreover, there were much fewer melanocytes and melanosomes in the epidermis of both lesions. The corneal layer of the brown papules was far thicker than that of the leukoderma. Therefore, the thick corneal layer of the brown papules may prolong the retention of a few melanosomes or a little melanin to induce hyperpigmentation, while the thin corneal layer of leukoderma may not do so, thereby producing hypopigmentation. The difference in clinical and histological courses after involvement of melanocytes was proposed to be the cause of the discrepancy between the previous reports. We conclude that leukoderma was the primary lesion, the postinflammatory depigmented spots, or the atypical or subclinical eruption of Darier's disease.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
10/13. 510-nm pigmented lesion dye laser. Its characteristics and clinical uses.BACKGROUND. Benign pigmented lesions are of a cosmetic concern to many individuals. Numerous treatments exist, including several types of lasers. The Candela 510 nm pigmented lesion dye laser has recently been added to this armamentarium. It is designed specifically for the treatment of superficial pigmented lesions while significantly decreasing the risk of scarring and prolonged hypopigmentation. OBJECTIVES. To describe the characteristics of the Candela pigmented lesion dye laser and report on the therapeutic outcome of patients treated for actinic lentigines, cafe-au-lait macules, melasma and red tattoos by one of the authors (RCG). methods. The Candela 510 nm pigmented lesion dye laser was used to treat solar lentigines, cafe-au-lait macules, melasma and red tattoo. RESULTS. Excellent outcomes resulted on facial and hand lentigines (89% and 88% of patients had greater than 75% clearing, respectively), but often required more than one treatment. Lentigines located on the upper extremities and trunk improved less dramatically. Immediate greying occurred universally. Bruising was often noted. Treatment failures have been observed especially in treating lentigines located on the lower extremities. Cafe-au-lait macules responded inconsistently, with facial lesions giving the best results. Melasma responded poorly, often with hyperpigmentation. Three red tattoos cleared. treatment failure may be related to inaccurate clinical assessment of pigment depth or regrowth of the lesion. Several cases are presented to demonstrate clinical and histologic effects of the laser. CONCLUSION. The Candela 510-nm pigmented lesion dye laser is an effective treatment for superficial pigmented lesions. Its associated morbidity is minimal.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
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