Cases reported "Alopecia"

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1/166. Diffuse alopecia with stem cell folliculitis: chronic diffuse alopecia areata or a distinct entity?

    A 34-year-old woman presented with an 8-year history of slowly progressive diffuse nonscarring alopecia with loss of hair density. scalp biopsy specimens showed increased miniaturized follicles and an asymmetric wedge-shaped lymphocytic infiltrate concentrated on the stem cell-rich region at the point of entry of sebaceous ducts and at bulge-like regions of multiple follicles. Several hair bulbs emerging at the stem cell compartment also were inflamed, but the hair bulbs in the deeper dermis and subcutis were spared. I speculate whether these findings may represent a stem cell folliculitis similar to the reaction pattern previously observed in graft versus host disease and in androgenetic alopecia. The additional presence of peribulbar lymphocytic inflammation could indicate that the patient had a variant of alopecia areata. The clinical presentation of a slowly progressive diffuse alopecia without progression to clinically recognizable alopecia areata and the prominent lymphocytic inflammation involving the stem cell compartment may prompt a reexamination of similar cases currently classified as chronic diffuse alopecia areata. The concept that lymphocytes can inhibit stem cell function without destroying the stem cells themselves needs consideration.
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ranking = 1
keywords = cutis
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2/166. Congenital triangular alopecia.

    Three new cases of congenital triangular alopecia are reported and the differential diagnosis of this rare developmental defect is discussed.
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ranking = 12.626836645666
keywords = congenita, defect
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3/166. Ophthalmic findings in GAPO syndrome.

    BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.
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ranking = 3811.411670929
keywords = ectodermal dysplasia, dysplasia, defect
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4/166. Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis.

    We report the unusual association of normocomplementemic type I membranoproliferative glomerulonephritis in a 10-year-old girl with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasias, and an atrial septal defect.
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ranking = 0.11202399199124
keywords = defect
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5/166. Temporal triangular alopecia acquired in adulthood.

    Temporal triangular alopecia is a relatively common, nonscarring form of alopecia. Sometimes congenital, the vast majority of lesions appear during the first 6 years of life and remain stable thereafter. We report a case of temporal triangular alopecia arising during adulthood.
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ranking = 12.514812653675
keywords = congenita
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6/166. Cardiofaciocutaneous (CFC) syndrome.

    An 11-year-old boy affected by mental retardation and seizures demonstrates congenital heart defect, many dysmorphic features and dry skin. His hair is sparse over the vertex with alopecia of the eyebrows and eyelashes. There are horny small papules evident in those areas. The diagnosis of cardiofaciocutaneous syndrome has been made. The relationship between cardiofaciocutaneous and Noonan syndrome is discussed.
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ranking = 12.626836645666
keywords = congenita, defect
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7/166. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).

    A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. A 2-year-old sister had atrophoderma and ichthyotic skin lesions arranged in a linear pattern and a large noncicatrical bald patch on her scalp. Similarly, the mother had linear lesions of scaling and atrophy as well as circumscribed hairless areas involving the scalp, the axillary region, and the lower legs. sweat testing by means of iodine starch-reaction visualized hypohidrotic linear lesions corresponding to the areas of hyperkeratosis and atrophy. In both mother and daughter the lesions followed the lines of Blaschko, whereas the boy was diffusely affected. family history showed that the boy's maternal uncle who had died at age 1 year was likewise affected with the same disorder. Moreover, the maternal grandmother had reportedly bald patches on her scalp and very dry skin. This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndrome.
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ranking = 12.514812653675
keywords = congenita
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8/166. Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome.

    Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder and was first described in 1970. The main clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral manifestations. A 14-year-old caucasian boy with ECCL associated with otolaryngologic manifestations is reported. To our knowledge, this is the first case of ECCL with otolaryngologic manifestation in the English literature.
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ranking = 12.514812653675
keywords = congenita
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9/166. oral manifestations of Schimmelpenning syndrome: case report and review of literature.

    Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.
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ranking = 18.08234929441
keywords = dysplasia, aplasia, defect
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10/166. Conjunctival edema and alopecia of the external third of the eyebrows in a patient with meige syndrome.

    PURPOSE: To describe a patient with meige syndrome in whom we observed the coexistence of hereditary lymphedema of the lower legs, conjunctival edema and alopecia of the lateral third of the eyebrows. methods: Case report. RESULTS: Histological examination of the conjunctival and skin specimens showed dermal edema and a slight reduction in the number of severely ectatic lymphatics in the reticular dermis. The vessel were identified as lymphatics on the basis of immunohistochemical evidence of discontinuity and/or absence of basement membrane. CONCLUSIONS: Clinical and histological findings suggest that the etiopathogenesis of the edema in meige syndrome is related to a structural ectatic defect of lymphatics. This anomaly seems to involve both skin and other sites, such as conjunctival mucosa.
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ranking = 0.11202399199124
keywords = defect
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