1/24. Hereditary perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts.Eight members of a single family all presented the characteristic changes of facial, especially perioral, pigmented follicular atrophoderma, with numerous milia and epidermoid cysts. For this condition. diagnosis at a glance may be possible because of the perioral cutaneous manifestations. Histopathological examination of follicular atrophoderma revealed proliferation of basaloid cells continuous with the epidermis and coarse collagen fibres, with a decreased density of elastic fibres around the basaloid cells. Two of the eight individuals also showed generalized hypohidrosis. The eight affected persons were the proband, her son, mother, uncle, two younger sisters, cousin and nephew: an autosomal dominant mode of transmission was suggested from this family tree. The patients' symptoms resembled those of Bazex-Dupre-Christol syndrome, except for the different distribution of the follicular atrophoderma and the absence of basal cell carcinoma and hypotrichosis. This disease may be an entirely new syndrome characterized by perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
2/24. Focal polymicrogyria in mother and son.This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
3/24. Treatment of atrophoderma of Pasini and Pierini-associated hyperpigmentation with the Q-switched alexandrite laser: a clinical, histologic, and ultrastructural appraisal.BACKGROUND AND OBJECTIVE: Atrophoderma of Pasini and Pierini (APP) is an uncommon cutaneous disorder, with no known effective treatment, manifested by hyperpigmented patches that appear to be depressed compared with surrounding skin. This study investigated the effectiveness of the Q-switched alexandrite laser on a patient with extensive APP, and evaluated histopathologic and ultrastructural changes. STUDY DESIGN/MATERIALS AND methods:A man with stable APP underwent Q-switched alexandrite laser treatment to a patch on the trunk. Biopsies were obtained from treated and untreated sites of involvement. light and transmission electron microscopic evaluation was performed to investigate melanosome number, size, and volume, as well as melanin granule number and size. RESULTS: After three treatment sessions, the treated area showed marked clinical improvement. Electron microscopy showed a 19% reduction in melanin granule number and size and a 65% reduction in melanosome number, size, and volume in larger melanosomes in treated compared with untreated sites. CONCLUSION: Treatment of APP with the Q-switched alexandrite laser results in clinical improvement. Electron microscopic evaluation suggests that the mechanism may be a reduction in the number, size, and volume of larger melanosomes as well as a decrement in melanin granule number and size.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
4/24. adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. brain MRI showed vermian and hemispheric cerebellar atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
5/24. Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene.Hyperpigmented atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linear atrophoderma of Moulin. We review 15 published reports and describe 4 additional cases. Histopathologically, there is no clear sign of atrophy found in specimens examined by light microscopy. It might well be argued that a focal reduction of subcutaneous fatty tissue contributes to the obvious clinical atrophy. The cause and pathogenesis of the disorder remains unknown. It may reflect mosaicism caused by a postzygotic mutation that occurred at an early developmental stage, in analogy to many other diseases distributed along Blaschko's lines. Linear atrophoderma of Moulin may reflect the action of an autosomal lethal gene surviving by mosaicism. There are so far no reports of a familial occurrence that could favor a paradominant transmission of linear atrophoderma of Moulin. However, theoretically, the postzygotic mutation giving rise to an aberrant cell clone could still be nonlethal. In a heterozygous individual, a postzygotic mutational event might lead to loss of the corresponding wild-type allele at the atrophoderma locus. This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
6/24. Early onset huntington disease: a neuronal degeneration syndrome.huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by involuntary movements, personality changes and dementia. By contrast, in children a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizures is noticed. The earlier onset is often associated with a paternal transmission of the disease allele to the offspring. We report here a rather unusual infantile onset of the disease in a little girl who presented with a history of seizures and psychomotor regression starting at the age of 3 years. A progressive cortical-subcortical atrophy, progressive cerebellar atrophy and lesions in the basal ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed. Conclusion: Juvenile Huntingdon disease should be considered in children suffering from a progressive neurodegenerative disease.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
7/24. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus.We report a three generation Indian pedigree with the proband having 45 repeats at the Machado Joseph Disease (MJD)/spinocerebellar ataxia 3 (SCA3) disease locus. The proband exhibited clinical features of SCA and showed signs of cerebellar and brainstem atrophy on the MRI scan. The 45 repeat allele was unstable upon inter-generational transmission and was associated with a haplotype found in the majority of MJD/SCA3 patients from around the world. This is the smallest unstable allele reported till date at the MJD/SCA3 locus and may greatly reduce the gap between normal and pathological repeat ranges. This article contains supplementary material, which may be viewed at the American Journal of Medical genetics website at http://www.interscience.wiley.com/jpages/0148-7299:1/suppmat/index.html.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
8/24. Collateral damage in acute zonal occult outer retinopathy.PURPOSE: To evaluate the disease involvement in a patient with acute zonal occult outer retinopathy (AZOOR). DESIGN: Observational case report. methods: A patient with acute zonal occult outer retinopathy was imaged with fundus photography, fluorescein and indocyanine green angiography, and autofluorescence photography. RESULTS: There was subtle depigmentation in the central portion of the lesion with a drusen-like deposit at the outer border. fluorescein angiography showed a transmission defect centrally and a blocking defect at the border where the drusenoid material accumulated. Autofluorescent photography demonstrated that the drusenoid material was intensely autofluorescent, consistent with the presence of lipofuscin, and the central portion of the lesion showed atrophy of the retinal pigment epithelium. indocyanine green angiography showed atrophy of the choriocapillaris underlying areas of atrophy of the retinal pigment epithelium. CONCLUSIONS: In this case acute zonal occult outer retinopathy caused an area of retinal pigment epithelium cell death with lipofuscin-laden cells at the border of the expanding lesion and associated atrophy of the underlying choriocapillaris.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
9/24. Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission.focal dermal hypoplasia is a rare genetic disorder characterized by diffuse and specific cutaneous lesions. Multiple visceral abnormalities are frequently associated. A minimal form of the disease (only cutaneous and localized to one thigh) is reported in the father of a woman who had typical focal dermal hypoplasia.- - - - - - - - - - ranking = 4keywords = transmission (Clic here for more details about this article) |
10/24. McArdle's disease: two clinical expressions in the same pedigree.Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
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