1/37. 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 = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/37. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/37. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/37. A syndrome of hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS).Hemimaxillofacial dysplasia and segmental odontomaxillary dysplasia appear to be the same syndrome, having the common features of unilateral abnormalities of bone, teeth, gums, and skin. oral manifestations are the hallmark of this condition. Those affected are generally recognized in childhood and may have partial anodontia, abnormal spacing of the teeth, delayed eruption, and gingival thickening of the affected segment. Reported cutaneous manifestations include facial asymmetry, Becker's nevus, "hairy nevus," lip hypopigmentation, discontinuity of the vermilion border, depression of the cheek, and erythema. The oral lesions do not appear to be progressive. We describe a child with features consistent with hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia. Findings of a biopsy specimen from the cheek confirmed the presence of a Becker's nevus. Cutaneous findings reported in the previous 31 cases are reviewed and summarized. The acronym HATS (hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings) is introduced to reflect the spectrum of abnormalities in bone, teeth, and skin that may be seen in this developmental disorder.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
5/37. Penetrating trauma associated with findings of multiple evanescent white dot syndrome in the second eye: coincidence or an atypical case of sympathetic ophthalmia?PURPOSE: To report a case of sympathetic ophthalmia (SO) resembling multiple evanescent white dot syndrome (MEWDS). methods: Retrospective chart review. RESULTS: A 17-year-old girl with a ruptured globe in the right eye underwent prompt primary repair and vitrectomy, scleral buckling, and silicone oil infusion 3 weeks later. Eight weeks after injury, she presented with visual loss in the left eye. Fundus examination in the left eye disclosed optic disk swelling and well-circumscribed, 100 to 500 microm diameter gray-white lesions at the level of the retinal pigment epithelium (RPE) posterior to the equator, sparing the fovea. On fluorescein angiography, the lesions appeared as areas of blocked choroidal fluorescence in the arterial phase and were associated with dye leakage in a wreathlike pattern during venous filling. Dye leakage occurred at the optic disk. Visual field testing showed depressed central sensitivity and an enlarged blind spot in the left eye. The patient was treated with prednisone and underwent diagnostic enucleation of the right eye. Histopathology showed rare choroidal granulomata and pigment phagocytosis. Vision improved to 20/20 in the left eye, and the window defects persisted. Visual field testing 6 months later was normal. One month after discontinuing prednisone, new areas of RPE hypopigmentation developed. Two weeks later, choroidal inflammation recurred and periphlebitis developed. CONCLUSION: This case indicates that SO can mimic MEWDS.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
6/37. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred amish family. Since then, seven other patients, three sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy-Walker type. We report a new case of Cross syndrome.- - - - - - - - - - ranking = 5keywords = hypopigmentation (Clic here for more details about this article) |
7/37. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.A detailed analysis of the constitutional chromosomal changes in two pediatric patients was performed using high resolution genetic analysis techniques, microarray comparative genomic hybridization (array CGH) and multiplex ligation-dependent probe amplification (MLPA) as well as FISH. The aim was to come to a more precise characterization of the genotype/phenotype relationship. Case 1 was a girl of 25 months, showing areas of hypopigmentation along the lines of Blaschko and no other developmental abnormality. She carried a ring chromosome 19 which we found not to have resulted in loss of subtelomeric sequences, ruling out the possibility that a small subtelomeric loss was causally related to this patient's phenotype. Case 2 was a 9-year-old girl with facial anomalies and mild growth and mental retardation carrying an unidentified addition on chromosome 2p. We found that the addition was duplicated 2q35-q37.3 and that the addition was not accompanied by loss of 2pter or any other chromosomal region. Together with literature data, we hypothesize that pediatric patients with 'pure' trisomy 2q including bands 2q35-q37.1 may have a moderate clinical phenotype as opposed to patients with duplications proximal to 2q33 or patients with duplications 2q3 with accompanying distal deletion. These two examples illustrate the additional value of new, high resolution genetic analysis techniques for a better characterization of the genotype/phenotype relationship in childhood chromosomal disorders.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
8/37. Aquagenic syringeal acrokeratoderma: report of a case with histologic findings.Aquagenic syringeal acrokeratoderma is a rare acquired condition characterized by painful symmetric swelling and hypopigmentation of the palms and lateral fingers, which develops after brief exposure to water. Histopathologic examination suggests that an aberration in the eccrine sweat gland apparatus may be the underlying cause of this condition. The "hand-in-the-bucket sign," in which patients arrive in their physician's office with their hand in a bucket of water to more readily demonstrate their lesions, is such a common presentation that it almost can be regarded as pathognomonic. All 12 cases reported to date have been in young females. We report a case of aquagenic syringeal acrokeratoderma in a male with unique histologic findings.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
9/37. Sternal malformation/vascular dysplasia syndrome with linear hypopigmentation.We report a 7-year-old boy who presented with a facial haemangioma, a circumscribed depression over the sternum, coarctation of the aorta, ventricular septal defect and dysplastic cerebral arteries responsible for an episode of acute infarct. This combination of clinical features has been described as the sternal malformation/vascular dysplasia syndrome or PHACES syndrome. At the age of 5 years, lines of hypopigmentation were noted on the right arm, the right hand and the back, along the lines of Blaschko, with no history of any preceding inflammatory changes, and have persisted unchanged. These pigmentary changes have not previously been reported in association with this syndrome.- - - - - - - - - - ranking = 5keywords = hypopigmentation (Clic here for more details about this article) |
10/37. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
| | Next -> |