1/85. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. Most previous studies of ring chromosomes were based on standard cytogenetic banding techniques and were limited to microscopically detectable deletions in the ring chromosomes. We report on two patients with complete ring (4) and ring (9) chromosomes, respectively. The first was a 15-month-old girl and the second was a 16-month-old boy. They both presented with severe, symmetrical growth failure and normal psychomotor development in the absence of malformations. Their parents had a normal phenotype. The first case had a whorled pattern of hyperpigmentation and hypopigmentation on part of the face and chest, and the second case had a patchy hyperpigmented rash on the trunk. Peripheral blood karyotype of the first patient was 46,XX, r(4)(p16.3q35.2) and of the second 45,XY,-9/46,XY,r(9)(p24q34.3). G-band analysis suggested no loss of material in the ring chromosomes. These findings were confirmed by fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes. The common human telomeric sequences were intact in the first patient but absent in the second patient. The cytogenetic and FISH data in our two cases provide further evidence for the existence of a "complete ring" phenotype independent of the autosome involved. Pigmentary skin changes are a useful clinical sign of mosaicism caused by the ring instability.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
2/85. hypopigmentation of a papillary carcinoma arising in a black thyroid.We report a case of an unpigmented papillary carcinoma arising in a black thyroid induced by minocycline. Black thyroid syndrome is an unusual pigmented change seen almost exclusively in patients on minocycline, apparently resulting from an oxidative interaction between thyroid peroxidase and the drug. Twenty-six cases have previously been reported in the English literature, nine of which described an associated thyroid neoplasm. Four of these nine neoplasms were described as pale or hypopigmented. The nature of the lesion against the background of pigmentation suggests diminished function of the thyroid peroxidase in this clonal population.- - - - - - - - - - ranking = 10.813505589923keywords = back (Clic here for more details about this article) |
3/85. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9.Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. A family with DSH and idiopathic torsion dystonia (ITD), a rare neurological disease, was recently reported. Therefore, we speculated that there was a linkage between the DSH gene and the ITD gene, named DYT1 and localized on chromosome 9, and performed linkage analysis between DSH and microsatellite markers on chromosome 9 in three Japanese DSH families (36 patients in total). We obtained a lod score of < -2 over the whole region of chromosome 9 encompassing DYT1. Thus, we conclude that there is no linkage between DSH and DYT1 as well as any region of chromosome 9.- - - - - - - - - - ranking = 10.813505589923keywords = back (Clic here for more details about this article) |
4/85. Hypomelanosis of Ito.A two-year-old male child presented with bizarre hypopigmented skin lesions, severe mental retardation and generalized tonic-clonic seizures. Examination showed hypopigmented patterned whorls and irregular patches over the trunk and linear streaks over the flexor aspects of upper and lower limbs. He also had generalized hypertonia and brisk tendon reflexes. Other systems were normal.- - - - - - - - - - ranking = 3.4463303517295keywords = upper (Clic here for more details about this article) |
5/85. Massive abdominal and pelvic myxoma in Carney's syndrome.This report describes a massive abdominal and pelvic myxoma in a patient with Carney's syndrome. A 38 year old woman presented with abdominal distension and a palpable mass, and at operation a large pelvic and abdominal tumour was identified and resected. The surgical specimen consisted of a lobulated mass, which on cut section had a uniform gelatinous consistency. The mass surrounded both ovaries, the appendix, and the upper part of the uterus, but macroscopically did not appear to involve these organs. Histological examination showed plump stellate and spindle shaped cells set in an abundant myxoid stroma, in keeping with a myxoma. Immunohistochemical staining revealed positivity of tumour cells for vimentin, but no reactivity to desmin, alpha-smooth muscle actin, S-100 protein, CD34, or AE1/AE3. This is the first documented case of massive adominal and pelvic myxoma in a patient with Carney's syndrome. Clinicians and pathologists should be aware that myxomas in Carney's syndrome can rarely involve unusual sites other than the skin and heart.- - - - - - - - - - ranking = 3.4463303517295keywords = upper (Clic here for more details about this article) |
6/85. Acquired dermal melanocytosis in an African-American: A case report.We report an unusual case of acquired dermal melanocytosis occurring in a 57-year-old African-American woman. Macular pigmentation over the patient's cheeks, back, and sclerae developed over the course of 18 months without identifiable antecedent. The patient was taking only hormone replacement therapy and was generally healthy. Histologic examination of the skin revealed dendritic melanocytes and melanophages in the mid- to upper dermis. We briefly review the literature surrounding acquired dermal melanocytosis and continue discussion regarding its pathogenesis.- - - - - - - - - - ranking = 14.259835941652keywords = back, upper (Clic here for more details about this article) |
7/85. Successful treatment of treatment-resistant laser-induced pigment darkening of a cosmetic tattoo.BACKGROUND AND OBJECTIVE: Cosmetic tattoo removal has a reported risk of immediate pigment darkening when treated with a high energy, nanosecond pulsed-laser system. Surgical treatment options for this reaction are limited and carry significant risk of scarring and permanent pigment alterations. This report describes the response of a resistant Q-switched ruby laser-induced cosmetic tattoo ink darkening to multiple treatments with the Q-switched alexandrite laser and Q-switch Nd:YAG laser and textural improvement with the UltraPulse CO(2) laser. STUDY DESIGN/MATERIALS AND methods: A woman with Q-switched ruby laser-induced pigment darkening of a cosmetic tattoo of the upper lip resistant to four further treatments with the ruby laser and two chemical peels received a total of 26 treatments with the Q-switched alexandrite and Nd:YAG lasers and a single treatment with the UltraPulse CO(2) laser, most treatments being done at monthly intervals. RESULTS: Treatment of the affected areas with the Q-switched alexandrite and Nd:YAG lasers resulted in complete clearing of the pigment without scarring, but revealed some preexisting textural changes. Use of the UltraPulse CO(2) laser smoothed the surface irregularities. CONCLUSION: The Q-switched pigment lasers are a useful modality for treating this pigment darkening reaction. As in this case, multiple treatment sessions with the laser may be necessary but the pigment can be expected to clear eventually without scarring. Any textural changes may be blended with the UltraPulse CO(2) laser with further improvement.- - - - - - - - - - ranking = 3.4463303517295keywords = upper (Clic here for more details about this article) |
8/85. Dowling-Degos disease--a heat aggravated variant.A 22-year-old woman presented with a 5-year history of a micropapular eruption localized to the flexor aspect of her limbs as well as persistent reticulate pigmentation of her neck and upper chest resembling Darier's disease. The eruption was associated with pruritus that was precipitated by heat and was worse in summer. The axillae, groins and inframammary areas had multiple papules but lacked reticulate pigmentation. Multiple biopsies showed an epidermis with club- and antler-like rete ridges but no acantholysis or dyskeratosis. This distinct clinical presentation may represent an unusual heat aggravated variant of Dowling-Degos disease that clinically shares features with Darier's disease and transient acantholytic dermatosis.- - - - - - - - - - ranking = 4.4463303517295keywords = upper, chest (Clic here for more details about this article) |
9/85. Open pilot study on oxcarbazepine for the treatment of notalgia paresthetica.Notalgia paresthetica is a sensory neuropathy typically presenting with pruritus on the back. There is currently no effective treatment for this disorder. We describe a single patient who responded to oxcarbazepine, and a subsequent trial in another 4 who also responded. Although the number of patients in our study is small, we believe further trials are warranted to determine the efficacy of oxcarbazepine in this disorder.- - - - - - - - - - ranking = 10.813505589923keywords = back (Clic here for more details about this article) |
10/85. Functional melanonychia due to involvement of the nail matrix in systemic lupus erythematosus.Longitudinal melanonychia is an unusual finding in systemic lupus erythematosus. We report the case of a patient of Arabic extraction with cutaneous lesions of lupus erythematosus on the cheek and chest and longitudinal melanonychia affecting several fingers. Results of histologic examination of the skin and direct immunofluorescence analysis confirmed the diagnosis of systemic lupus erythematosus. The distal matrix revealed changes suggestive of systemic lupus erythematosus accompanied by increased activity of melanocytes but without melanocytic hyperplasia. In this case, longitudinal melanonychia associated with systemic lupus erythematosus was of functional origin.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
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