1/44. Congenital poikiloderma with unusual hypopigmentation and acral blistering at birth.Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of rothmund-thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/44. Linear lymphatic hypopigmentation after intralesional corticosteroid injection: report of two cases.Perilesional and linear hypopigmentation, extending cephalad along the lymphatics, occurred in one patient following intralesional injection of corticosteroid suspension for treatment of a hypertrophic scar, and in a second patient following sub-lesional injection of a soft toe-web corn. atrophy did not occur. Repigmentation in both patients was complete without specific treatment. review of the literature and evaluation of these patients suggest that the linear hypopigmentation in these two cases was caused by lymphogenous uptake of the corticosteroid crystals.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/44. 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 = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |
4/44. 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 = 0.66666666666667keywords = hypopigmentation (Clic here for more details about this article) |
5/44. 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 = 0.83333333333333keywords = hypopigmentation (Clic here for more details about this article) |
6/44. Treating REM syndrome with the pulsed dye laser.BACKGROUND AND OBJECTIVE: REM syndrome (reticular erythematous mucinosis) is a benign but bothersome skin disease that common occurs in middle age and among women. Local and systemic treatment measures are often associated with a high rate of side effects and relapses are common. We evaluated the pulsed dye laser as an alternative method because of its good efficacy in vascular skin diseases. STUDY DESIGN/MATERIALS AND methods: We treated two female patients with REM syndrome using the pulsed dye laser. RESULTS: In both patients the erythematous skin changes were almost completely removed after five and three laser sessions, respectively. Other than transient hypopigmentation, no side effects occurred. In one case there is still no evidence of recurrence 6 years after a trial treatment was conducted. In the same patient, clinical success was histologically confirmed. CONCLUSIONS: This is the first report on the successful treatment of REM syndrome of two female patients with the pulsed dye laser.- - - - - - - - - - ranking = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |
7/44. hypopigmentation after non-permanent henna tattoo.A young girl presented with a hypopigmentation in the shape of the sun. During a holiday in egypt 3 months before a non-permanent henna tattoo had been applied on her right upper arm. Three to 4 days later there was a severe cutaneous reaction followed by massive swelling of the arm. The lesion took 6 weeks to subside. Patch testing revealed positive reactions to para-phenylenediamine (PPD) but not to henna or any other standard allergen. Especially in Arabic countries PPD is a common additive in natural henna preparations to enhance the weak colouring properties of the natural henna dye. We conclude that henna preparations may contain 'hidden' allergens, such as PPD, which can provoke severe cutaneous reaction without any cosensitization to the henna dye itself.- - - - - - - - - - ranking = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |
8/44. Broad spectrum of leukoderma acquisitum centrifugum.A series of diverse neuroectodermally derived tumors associated with halos of leukoderma is presented. Clinically these lesions have in common a centrally placed, usually pigmented tumor encircled by a zone of hypopigmentation. The histological findings include (1) reduction or absence of epidermal melanin, but persistence of amelanotic melanocytes in the leukodermic halo; (2) a variety of tumors including nevus-cell nevus, neuroid nevus, blue nevus, neurofibroma, and malignant melanoma; (3) variable numbers of "small dark cells" whose nature is unclear, and which probably represent in part small nevus cells and in part lymphoid cells; and (4) damage to some tumor cells which presumably could be the cause of their destruction. Also presented are histochemical demonstrations of tyrosinase activity and immunohistochemical studies for presence of gamma-globulin in the tumors. Using the fluorescent antibody technique it was not possible to show gamma-globulins in patients' sera directed against their tumors. The relationship of developing hypopigmentation to the spontaneous regression of cutaneous neuroectodermally derived tumors is discussed.- - - - - - - - - - ranking = 0.33333333333333keywords = hypopigmentation (Clic here for more details about this article) |
9/44. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened dna of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-waardenburg syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |
10/44. Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), 13/46,xy].The term hypomelanosis of Ito (HI) has been used as a diagnosis for individuals with swirly hypopigmentation or depigmentation distributed along the lines of Blaschko. HI should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. We report a six-month-old severely motor and mental retarded boy with these typical cutaneous lesions associated with extracutaneous features, including facial dysmorphism, polydactyly, and inguinal hernia. The cytogenetic examination of lymphocytes demonstrated a mosaicism of 46, XY, der (13;13) (q10;q10), 13/46, XY. This is the first case reported in the literature showing an association between phylloid pigmentary pattern of hypomelanosis of Ito and trisomy 13 mosaicism.- - - - - - - - - - ranking = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |
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