1/44. Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement.Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. Allogeneic BMT in the early period is an important modality of treatment for GD. We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 108/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus. Long-term follow-up will determine the prognosis regarding the neurological findings.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
2/44. The treatment of hypopigmented lesions with cultured epithelial autograft.hypopigmentation may be a significant problem after burn injury. It is often difficult to predictably repair with conventional surgical techniques. It has been our experience that epidermal cells cultured from patients with dark skin produce pigment within the epidermal cell sheets, which indicates the presence of melanocytes. The presence of melanocytes and melanin in these cell sheets was demonstrated with the use of histochemical techniques. The results indicate that repigmentation with cultured epithelial autograft is possible. We describe a novel technique of dermabrasion and a co-culture of epidermal cells and melanocytes.- - - - - - - - - - ranking = 0.66666666666667keywords = cell (Clic here for more details about this article) |
3/44. onchocerciasis presenting with lower extremity, hypopigmented macules.onchocerciasis, or river blindness, is a parasitic infection caused by the filarial nematode, onchocerca volvulus. It infects 18 million people worldwide, but is rarely seen in the united states. It is one of the leading causes of blindness in the developing world. Although onchocerciasis is also known as river blindness, it is not just a disease of the eyes, but rather a chronic multisystem disease. Clinically, onchocerciasis takes three forms: 1) eye disease; 2) subcutaneous nodules; and 3) a pruritic hypopigmented or hyperpigmented papular dermatitis. We present an 18-year-old African female with a 5-year history of asymptomatic, hypopigmented, slightly atrophic macules on her anterior tibiae. pathology revealed a scant perivascular inflammatory infiltrate with mononuclear cells, eosinophils, and rare microfilariae in the papillary dermis. ivermectin is the treatment of choice for onchocerciasis and was initiated in this patient. We present this interesting patient with onchocerciasis to expand our differential of hypopigmented macules, especially in the African population. In addition, we discuss both the diagnosis and the treatment of onchocerciasis in expatriate patients living in nonendemic areas.- - - - - - - - - - ranking = 0.16666666666667keywords = cell (Clic here for more details about this article) |
4/44. Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.- - - - - - - - - - ranking = 281.74216674161keywords = naevus (Clic here for more details about this article) |
5/44. Leucoderma associated with flares of erythrodermic cutaneous T-cell lymphomas: four cases. The French Study Group of Cutaneous Lymphomas.We describe four patients with erythrodermic cutaneous T-cell lymphomas (two with erythrodermic mycosis fungoides, and two with sezary syndrome) who presented with extensive hypopigmented lesions that occurred during flares of their cutaneous disease. These cases must be distinguished from previously described hypopigmented mycosis fungoides where hypopigmented lesions were the sole manifestation of the lymphoma. In two cases a biopsy was performed on hypopigmented skin, showing an infiltrate of atypical lymphocytes with epidermotropism and absence of melanocytes, as in vitiligo. It is suggested that the hypopigmentation could be due to the cytotoxicity of tumour or reactional lymphocytes directed against melanocytes.- - - - - - - - - - ranking = 0.83333333333333keywords = cell (Clic here for more details about this article) |
6/44. Generalized cutaneous depigmentation following sulfamide-induced drug eruption.A 41-year-old male developed a generalized drug eruption following sulfamide therapy, with progressive albino-like generalized cutaneous depigmentation. Electron microscopy showed the absence of melanocytes, and clear cells with Langerhans cell characteristics were seen along the basal layer. The present case constitutes a unique reaction to sulfamides not previously reported in the literature.- - - - - - - - - - ranking = 0.33333333333333keywords = cell (Clic here for more details about this article) |
7/44. Depigmented genital extramammary Paget's disease: a possible histogenetic link to Toker's clear cells and clear cell papulosis.BACKGROUND: The histogenesis of extramammary Paget's disease (EMPD) is still controversial. Benign pagetoid cells of the nipple first described by Toker and the similar clear cells found in white maculopapules of clear cell papulosis (CCP) have been proposed to be potential precursor cells giving rise to EMPD and primary intraepidermal Paget's disease in the nipple. The observation of a rare case of depigmented EMPD provided us with a chance to examine further the interesting Toker's clear cell/CCP hypothesis. methods: We performed pathologic studies, including Fontana-Masson stain and immunostaining for AE1/AE3 and S100P, on a new case of depigmented EMPD manifesting a 4 x 3 cm hypopigmented-depigmented patch on the root of the penis. RESULTS: The lesion showed extensive intraepithelial proliferation of atypical pagetoid cells with markedly reduced epidermal melaninization but nearly normal numbers of melanocytes. The tumor cells were strongly positive for AE1/AE3 by immunostaining. Some tumor cells displayed tadpole-like morphology resembling the pagetoid cells of CCP. Such morphology was not observed in two random examples of non-depigmented genital EMPD. CONCLUSIONS: The findings of tadpole-shaped pagetoid cells and depigmentation in the present case suggest that depigmented EMPD may be histogenetically related to CCP. Depigmented EMPD should be considered in the differential diagnosis of vitiligo, depigmented mycosis fungoides and lichen sclerosus located along the milk line.- - - - - - - - - - ranking = 3keywords = cell (Clic here for more details about this article) |
8/44. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism.Among the various types of pigmentary disturbances associated with mosaicism, the phylloid pattern (Greek phyllon = leaf, eidos = form) is characterized by multiple leaf-like patches reminiscent of an art nouveau painting. The number of cases displaying this unusual pattern is so far limited. We describe a phylloid pattern of hypomelanosis in a 3-year-old girl with multiple congenital anomalies including microcephaly, midfacial hypoplasia, cleft lip, coloboma, posteriorly rotated ears, pectus carinatum, and pronounced mental and physical retardation. In addition, this child had oval or oblong patches of hyperpigmentation involving the trunk in a horizontal arrangement dissimilar from the phylloid hypomelanotic pattern. In peripheral blood lymphocytes a karyotype 46,XX,-13, t(13q;13q) was consistently found, whereas cultured skin fibroblasts showed a complex form of mosaicism comprising three different abnormal cell lines (46,XX,-13, t(13q;13q)/45,XX,-13/45,XX,-13, frag). This case provides further evidence that the phylloid pattern represents a separate category of pigmentary disturbance to be distinguished from other types of cutaneous mosaicism such as the lines of Blaschko or the checkerboard arrangement.- - - - - - - - - - ranking = 0.16666666666667keywords = cell (Clic here for more details about this article) |
9/44. trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development.The prenatal diagnosis of trisomy 20 mosaicism presents a challenge for practitioners and parents. The diagnosis implies an uncertain risk for an inconsistent set of physical and developmental findings, as well as a substantial chance for a child that is normal physically and developmentally. We report two girls (ages nine years one month and eight years one month) with normal intelligence and hypopigmented skin areas. Both girls were born after a prenatal diagnosis of trisomy 20 mosaicism in amniocytes. Case 1 had 83% and 57% trisomy 20 cells from two separate amniocenteses and Case 2 had 90% trisomy 20 cells from an amniocentesis. trisomy 20 was confirmed after birth in urinary sediment (25%) and chorionic villus cells (15%) in Case 1, while cord blood lymphocytes (30 cells) and skin fibroblasts (50 cells) had only 46,XX cells. trisomy 20 was confirmed after birth in urinary sediment (100%), placenta (100%), cord (10%), amniotic membrane (50%), and skin fibroblasts (30%) in Case 2, while cord blood lymphocytes (100 cells) had only 46,XX cells. This is the first report of a hypopigmented pigmentary dysplasia associated with isolated trisomy 20 mosaicism. Our patients are the oldest reported children with trisomy 20 mosaicism confirmed after birth.- - - - - - - - - - ranking = 1.3333333333333keywords = cell (Clic here for more details about this article) |
10/44. Deletion in the OA1 gene in a family with congenital X linked nystagmus.AIMS: To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them. methods: A three generation family with congenital nystagmus following X linked inheritance, and associated with macular hypoplasia was clinically examined (three males and two obligate carriers). Flash VEP was performed to look for albino misrouting. dna samples were subjected to PCR and subsequent analysis using SSCP for all exons of the OA1 gene. RT-PCR was performed on a mRNA preparation from a naevus from one patient. PCR products presenting divergent banding patterns in SSCP and from the RT-PCR were sequenced directly using cycle sequencing with fluorescent chain termination nucleotides and electrophoresis in a capillary sequencer. RESULTS: The index case (patient 1, IV.1) was diagnosed with X linked OA1 at the age of 3 months because of typical clinical features: congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, normal pigmentation of skin and hair, and typical carrier signs of OA1 in his mother and maternal grandmother. Pigmentation of the iris and fundus had increased at the last examination at age 4 years. Albino misrouting was present at this age. In the maternal uncle (III.3, 51 years) who also suffered from congenital nystagmus there was clear macular hypoplasia and stromal focal hypopigmentation of the iris but no iris translucency or fundus hypopigmentation. Patient 3 (II.3, 79 years, maternal uncle of patient III.3) had congenital nystagmus and was highly myopic. The fundus appearance was typical for excessive myopia including macular changes. The iris did not show any translucency. Molecular genetic analysis revealed a novel 14 bp deletion of the OA1 gene at nt816 in exon 6. The mutation abolishes four amino acids (Leu 253-Ile-Ile-Cys) and covers the splice site. nucleotides 814/815 are used as a new splice donor thus producing a frame shift in codon 252 and a new stop codon at codon 259. CONCLUSIONS: Macular hypoplasia without clinically detectable hypopigmentation as the only sign of X linked OA1 has been reported occasionally in African-American, Japanese, and white patients. The present family shows absent hypopigmentation in two patients of a white family with a deletion in the OA1 gene. We propose a model of OA1 that allows increase of pigmentation with age. We hypothesise that macular hypoplasia in all forms of albinism depends on the extracellular DOPA level during embryogenesis, and that in OA1 postnatal normalisation of the extracellular DOPA level due to delayed distribution and membrane budding/fusion of melanosomes in melanocytes results in increasing pigmentation.- - - - - - - - - - ranking = 56.681766681654keywords = naevus, cell (Clic here for more details about this article) |
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