Cases reported "Alopecia"

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11/166. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

    A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.
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ranking = 1
keywords = congenita
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12/166. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.

    Congenital atrichia with papular lesions is a rare, recessively inherited form of hair loss characterized by a complete absence of all body hair shortly after birth. Mutations in the human ortholog of the mouse hairless (hr) gene have been implicated in the pathogenesis of this disorder. In this study, we screened, by direct sequence analysis, the hairless gene in a family of Polish descent and identified a novel missense mutation (C622G). The mutation alters the third of four invariant cysteins in the zinc-finger domain, which has high homology to the C-X-X-C-(X)17-C-X-X-C structure of the zinc-fingers of the GATA family of transcription factors. The human hairless gene encodes a putative transcription factor with restricted expression in the brain and skin, which is involved in the regulation of apoptosis during catagen remodeling in the hair cycle.
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ranking = 4
keywords = congenita
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13/166. Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.

    Marie-Unna hypotrichosis (MU) is a rare autosomal dominant congenital alopecia characterised by progressive hair loss starting in early childhood, often aggravated at puberty and leading to scarring alopecia of variable severity. We have studied three multigeneration families of Belgian, British and French descent. The human genome was screened with microsatellite markers spaced at 10-cM intervals and significant evidence for linkage to the disease was observed on chromosome 8p21, with a maximum two-point lod score of 8.26 for D8S1786 at a recombination fraction of 0. Recombinants narrowed the region of interest to a genetic interval of about 12 cM flanked by markers D8S280 and D8S1839. This interval contains the hairless gene which is mutated in autosomal recessive congenital atrichia. Sequencing of the entire coding region and intronic splice sites of the hairless gene in these three families and in two unrelated familial cases revealed several polymorphic changes but failed to identify causative mutations. Nine other genes located within this region and expressed in skin were also excluded by mutation analysis. Together with a recent linkage study performed in a Dutch and a British family by van Steensel et al these results provide evidence for the presence of a gene distinct from hairless in chromosomal region 8p21 playing an important role in hair follicle biology.
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ranking = 2
keywords = congenita
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14/166. Autosomal recessive multiple pterygium syndrome: a new variant?

    Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.
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ranking = 1
keywords = congenita
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15/166. Closure of a scalp defect.

    In repairing cutaneous defects, the facial plastic and reconstructive surgeon is faced with many specialized areas of tissue. Reconstruction of thin eyelid skin and thick, sebaceous nasal skin requires different methods. The unique characteristics of the scalp make it one of the greatest repair challenges in the head and neck region, sometimes requiring multiple different reconstructive techniques for the same defect.
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ranking = 0.053707871667585
keywords = defect
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16/166. Regional choroidal atrophy and alopecia. A new syndrome.

    Two siblings with total regional choroidal atrophy and other manifestations of ectodermal dysplasia are presented. The mode of inheritance is uncertain, but mild macular disease in the father may represent heterozygote manifestation of a recessive condition.
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ranking = 304.54308445584
keywords = ectodermal dysplasia, dysplasia
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17/166. A case of acute myocardial infarction associated with topical use of minoxidil (RiUP) for treatment of baldness.

    A 45-year-old Japanese man with paroxysmal atrial fibrillation (AF) developed acute anteroseptal myocardial infarction (MI). He had used 1% topical minoxidil (RiUP) once a day for 4 months before the onset of MI for treatment of baldness. coronary angiography demonstrated severe stenosis at the proximal portion of the left anterior descending coronary artery with a tilling defect. Electrocardiographic monitoring revealed paroxysmal AF and sinus bradycardia with sinus arrests, suggestive of sick sinus syndrome. Topical minoxidil is now widely used for the treatment of male pattern baldness. Although it may be difficult to relate topical use of minoxidil to myocardial ischemia, a greater awareness of its toxicity will be necessary, and patients with cardiovascular disorders should be excluded from the therapy.
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ranking = 0.0089513119445975
keywords = defect
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18/166. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

    Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.
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ranking = 1.3116420703583
keywords = dysplasia
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19/166. Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.

    Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of the winged-helix-nude (WHN) gene, which is expressed in the thymus but not in the hematopoietic lineage. The disease is characterized by a T-cell defect, congenital alopecia, and nail dystrophy. A Nude/SCID patient who underwent bone marrow transplantation from the human leukocyte antigen-identical heterozygote brother was studied to investigate, in this unique model, the role of the thymus in immunologic reconstitution. Despite an increase in CD3( ), CD4( ), and CD8( ) cells, CD4( ) CD45 RA naive lymphocytes were not regenerated. Conversely, naive CD8( ) cells were normal. After an initial recovery, lymphocyte proliferation to mitogens progressively declined compared with controls and genotypically identical donor cells grown in the WHN( /-) environment. Analysis of the T-cell receptor (TCR) repertoire of CD4( ) cells revealed that only 3 of 18 Vbeta families had an altered CDR3 heterogeneity length profile. Conversely, CD8( ) lymphocytes showed an abnormal distribution in most Vbeta families. These data indicate that the thymus is differentially required in the reconstitution of CD4( ) and CD8( ) naive subsets and in the maintenance of their TCR repertoire complexity. Taken together, these findings suggest that bone marrow transplantation is ineffective in the long-term cure of this form of SCID.
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ranking = 1.0089513119446
keywords = congenita, defect
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20/166. IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.

    ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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ranking = 1
keywords = congenita
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