1/54. Atrophie blanche-like scarring after pulsed dye laser treatment.Pulsed dye laser treatment is well established for the treatment of port-wine stains and other vascular skin lesions. Although hyperpigmentation is quite common, other side effects such as hypopigmentation and atrophic scarring occur infrequently, and hypertrophic scarring is rare.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/54. Mosaic trisomy 7 in a patient with pigmentary abnormalities.Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicism is responsible for the pigmentary findings in hypomelanosis of Ito (HI) and linear and whorled nevoid hypermelanosis (LWH). Both hypopigmentation and hyperpigmentation have been noted in the same individual, and both LWH and HI can be caused by similar chromosomal abnormalities. Both of these conditions exhibit similar systemic involvement. We present a case of LWH associated with mosaic trisomy 7 and review the relevant literature.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/54. 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 = hypopigmentation (Clic here for more details about this article) |
4/54. Analphoid 3qter markers.Two cases of marker chromosomes derived from a non-centromeric location were studied to determine the characteristics of these markers with respect to the presence of functional centromeres and whether an associated phenotype could be described. The markers were characterized by fluorescence in situ hybridization and centromeric protein studies. Assessments were done to identify clinical features. Case 1 is a girl referred at age 1.5 years with swirly areas of hyperpigmentation, bilateral preauricular pits, hypotonia, developmental delay, and seizures. Case 2 is a male first evaluated as a newborn and then later during the first year of life. He had streaky hypopigmentation, right preauricular pit, accessory nipples, postaxial polydactyly, asymmetric cerebral ventricles, duplicated right kidney, a right pulmonary artery stenosis, and seizures. mosaicism for an extra marker from the 3qter region was present in both cases. Both markers had a constriction near one end and were C-band negative. Centromeric protein studies indicated absence of CENP-B, presence of CENP-C (data for case 1 only), and presence of CENP-E. Marker chromosomes were thus identified with a chromosomal origin far from their usual centromeric region and yet appeared to have functional centromeres. These two cases did not permit a specific clinical phenotype to be ascribed to the presence of tetrasomy for 3q26.2 approximately 3q27.2-->3qter.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
5/54. Pigmentary anomalies in ataxia--telangiectasia: a clue to diagnosis and an example of twin spotting.A 6-year-old girl with consanguineous parents presented with a history of progressive ataxia and patchy, segmental pigmentary changes, some reminiscent of Blaschko's lines. There was no evidence of oculocutaneous telangiectases or signs of immunodeficiency. A clinical diagnosis of ataxia--telangiectasia (AT) was suggested and confirmed by the presence of a low serum IgA, raised alpha-fetoprotein and chromosomal rearrangements of chromosomes 7 and 14. This case of AT is unique for having hypopigmentation and hyperpigmented patches adjacent to each other, which is a feature that has been described as 'cutis tricolor', and is unusual for having pigmentary skin changes, some in the lines of Blaschko without telangiectases. Clinicians should be aware that a diagnosis of AT may be made in the absence of telangiectases.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
6/54. Pigmentary mosaicism of the hyperpigmented type in two half-brothers.Pigmentary mosaicism is a heterogeneous cutaneous phenotype that is often associated with extracutaneous anomalies. It is widely accepted that these phenotypes arise de novo as a result of a postzygotic mutation, leading to a mosaic status of the embryo. In the vast majority of cases, the occurrence of pigmentary mosaicism is sporadic. We report two paternal half-brothers affected with pigmentary mosaicism of the hyperpigmented type. The hyperpigmentation in both patients is distributed along the lines of Blaschko. In addition, mental retardation, facial asymmetry, short stature, scoliosis, and short fingers with clinodactyly of the 5th digit were noted in one of them. Chromosome analysis in this 15-year-old patient demonstrated a mosaic 46,XY,dup(3)(p21.3;pter)/46,XY with 12% aberrant cells in lymphocytes and 2% in skin fibroblasts derived from a hyperpigmented area. His nine-year-old half-brother had similar systematized hyperpigmented skin lesions, macrocephaly, facial asymmetry, and clinodactyly of the 5th digit. Chromosome analysis of peripheral lymphocytes showed a normal karyotype 46,XY. A skin biopsy could not be obtained. So far, some familial cases of hypopigmentation along the lines of Blaschko have been reported, but familial occurrence of the hyperpigmented type of pigmentary mosaicism appears to be extremely unusual. It is difficult to establish a causal relationship with the chromosomal mosaicism as observed in patient 1. Paradominant transmission seems unlikely because this would likewise imply that the chromosomal mosaicism is an incidental finding.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
7/54. Incontinentia pigmentii acromians with seizure disorder: a case report.Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal dominant type and in majority of the cases, one or more anomalies are present involving dermatological, dental and ocular disorders. A case of a female child, aged 2 1/2 yrs, referred from Pediatric neurology department, Medical College, Trivandrum with Incontinentia pigmentii acromians and seizure disorder is reported. Hamartomatous dental cusps and single maxillary central incisors have been associated with Incontinentia pigmentii acromians. A case of Incontinentia pigmentii acromians with hypoplastic teeth and tongue abnormalities is presented.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
8/54. Hypomelanosis of Ito with sturge-weber syndrome-like leptomeningeal angiomatosis.The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation following the lines of Blaschko (type 1a of patterns indicative of somatic mosaicism as defined by Happle). Even though originally described as a purely cutaneous disease, subsequent reports of HI have included a 30-94% association with multiple extracutaneous manifestations. The frequency of extracutaneous associations has led many authors to consider HI to be neurocutaneous disorder. We report a male infant with cutaneous hypomelanosis along the lines of Blaschko distributed on the left half of the body who developed status epilepticus. neuroimaging studies disclosed an angiomatous enlargement of the right choroid plexus and a gyral pattern of cortical and subcortical calcification in the right occipital region. Thus a diagnosis could be made of HI and associated sturge-weber syndrome-like leptomeningeal angiomatosis. This previously unreported association lends further support to the consideration of hypomelanosis of Ito as a marker of somatic mosaicism with frequently associated neurologic abnormalities. A relationship between HI and sturge-weber syndrome, two neuroectodermal disorders with a genetic mosaicism basis, might be possible due to nonallelic twin-spotting which in the embryologic period would define an abnormal development of neural, vascular, and cutaneous structures.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
9/54. Clinical findings in Japanese patients with waardenburg syndrome type 2.PURPOSE: To determine the visual characteristics of Japanese subjects with the waardenburg syndrome type 2. methods: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual field by confrontation or Goldmann's perimetry, stereoacuity by the Titmus test, and color vision by the Ishihara pseudoisochromatic plates. RESULTS: A combination of congenital sensory deafness and partial ocular albinism without lateral displacement of the lacrimal puncta was observed in 11 (4.6%) of the students with hearing deficit. All these children had sectorial heterochromia irides with local retinal hypopigmentation. Lid deformities were not present. The retinal vasculature was normal, and macular hypoplasty was not found. Other than 1 eye with hyperopic amblyopia, no serious visual disturbance was found in these patients. CONCLUSIONS: The 11 students were classified as having waardenburg syndrome type 2. None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
10/54. Pigmentary changes after alexandrite laser hair removal.BACKGROUND: Postinflammatory pigmentary changes are a frequently encountered problem with numerous dermatologic procedures. Limited literature is available that documents this complication with laser hair removal. OBJECTIVE: It is important for all physicians performing laser hair removal to be aware of this potential complication. We present our experience with postinflammatory pigmentary change and discuss some potential etiologic factors. methods: Seven patients who experienced postinflammatory complications after alexandrite laser hair removal are presented. These are all the patients who developed this complication in our office over the past 2.5 years. RESULTS: The patients who we describe in this article all developed a similar pattern of initial hyperpigmented rings, later developing into a thin wafer-like crust followed by hypopigmentation with gradual return to their normal skin color. CONCLUSION: In general, the alexandrite laser is both safe and effective for hair removal in patients of varying skin types. Complication rates will increase as skin pigment increases and as the power used increases. However, even in light-skinned individuals without recent pretreatment or posttreatment sun exposure, with proper treatment parameters, complications, and side effects can arise. We have found this to be especially true when treating areas other than the face.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
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