Cases reported "Hypotrichosis"

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1/31. Marie Unna hereditary hypotrichosis.

    Hereditary congenital hypotrichosis is an autosomal dominant pilar dysplasia first described by Marie Unna in an extended German family. The diffuse hair defect typically occurs as an isolated phenomenon and the ultrastructural hair findings consist of both torsion and longitudinal grooving of the hair shaft. A large pedigree comprising 6 generations with 20 members affected by Marie Unna hypotrichosis from italy is reported.
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ranking = 1
keywords = dysplasia, defect
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2/31. Sporadic case of trichorhinophalangeal syndrome type III in a European patient.

    Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagai et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.
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ranking = 0.99940483032761
keywords = dysplasia
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3/31. EEM syndrome: report of a family and results of a ten-year follow-up.

    We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. In this family, we also observed another sib with syndactyly, as well as a first cousin with ectrodactyly. A 10-year follow-up demonstrated gradually decreasing visual acuity and progression of retinal degenerative anomalies.
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ranking = 557.11701837595
keywords = ectodermal dysplasia, dysplasia
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4/31. ectodermal dysplasia with hypodontia in a set of Nigerian twins--a case report.

    A set of Nigerian male twins with features of ectodermal dysplasia born to apparently normal parents are presented. The main findings in both children were hypodontia, abnormally shaped teeth and hypotrichosis. The general treatment modalities of the condition, especially in a tropical environment, are discussed.
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ranking = 561.11463769726
keywords = ectodermal dysplasia, dysplasia
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5/31. A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification.

    Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. Only large pedigrees consistent with autosomal dominant transmission have been described to date. In this article the clinical and scanning electron microscopy findings of a nonfamilial case of congenital scalp hypotrichosis simplex are reported. In some patients the diagnosis of sporadic hypotrichosis simplex of the scalp should be considered after ruling out all other possible causes of congenital and hereditary hypotrichosis.
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ranking = 0.00059516967238612
keywords = defect
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6/31. anodontia with hypohidrotic ectodermal dysplasia in a young female: a case report.

    A five-year-old Japanese girl was referred to our clinic for non-eruption of the teeth. Panoramic radiographs revealed absence of all teeth of both primary and permanent dentitions. She showed hypotricosis, hypohidrosis, and anodontia. In this article, the reported cases of anodontia were reviewed and the fabricating procedure of full dentures for a young child was described.
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ranking = 4203.8998603056
keywords = ectodermal dysplasia, hidrotic ectodermal dysplasia, dysplasia
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7/31. Marie Unna hypotrichosis in an Asian family.

    We report on two patients from one family with Marie Unna hypotrichosis who showed a diffuse hair defect which typically occurs as an isolated phenomenon. The ultrastructural hair findings consisted of longitudinal grooving of the hair shafts and a flattening in cross-section. Characteristically, scalp hair had been lost from the scalp margins and a high frontal and nuchal hairline had been present at birth. eyelashes were absent, and eyebrows, axillary, and pubic hair were very sparse. Other affected cases have been reported in Caucasian families; however, this is the first case in the English medical literature of a family from Asia affected by Marie Unna hypotrichosis.
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ranking = 0.00059516967238612
keywords = defect
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8/31. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases.

    patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X-linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM examination of hair demonstrated a distinctly abnormal longitudinal grooving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth.
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ranking = 5254.874825382
keywords = ectodermal dysplasia, hidrotic ectodermal dysplasia, dysplasia
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9/31. Hereditary hypotrichosis simplex of the scalp.

    Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities. We describe two Spanish families with hypotrichosis of the scalp. We believe these families have Toribio and quinones type hereditary hypotrichosis simplex of the scalp.
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ranking = 0.00059516967238612
keywords = defect
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10/31. Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy).

    hypotrichosis of the Marie-Unna variety is a distinctive syndrome eponymously named following a publication in 1925 describing a family in which 27 individuals in seven generations were affected by a previously unreported type of hypotrichosis. Its inheritance is determined by an autosomal dominant gene and it usually occurs as an isolated abnormality. Hereditary macular degeneration (Stargardt's maculopathy) is also well recognized and has been reported in one family in association with alopecia areata but never in association with Marie-Unna hypotrichosis. Inheritance of Stargardt's maculopathy is autosomal recessive. Our patient demonstrates the co-existence of these two uncommon genetic disorders and it would appear that both defects have been independently inherited.
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ranking = 0.00059516967238612
keywords = defect
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