Cases reported "Hypotrichosis"

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11/31. hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

    We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.
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ranking = 1
keywords = ectodermal dysplasia, hidrotic ectodermal dysplasia, dysplasia
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12/31. A case of Schopf-Schulz-Passarge syndrome.

    Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular and eyelid margin apocrine hidrocystomas. Several other skin tumours have been described in association with this syndrome, in particular, multiple palmoplantar eccrine syringofibroadenoma (ESFA). We report a case of SSPS with diffuse palmoplantar hyperkeratosis, which was shown by histology and immunocytochemistry to be due to ESFA.
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ranking = 0.11691822104832
keywords = ectodermal dysplasia, dysplasia
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13/31. hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome.

    We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.
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ranking = 0.0010486902303723
keywords = dysplasia
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14/31. association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report).

    The authors reported a 41-year-old female patient with EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) syndrome with hypotrichosis, teeth anomaly, split hand complex and retinal changes with prominent pigmentations located in the posterior pole of the retina. retinal degeneration had shown minimal progression during 11 years. A longer follow-up period was necessary to make a definite diagnosis of these fundus changes. This is an isolated case born from a consanguineous marriage.
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ranking = 0.5845911052416
keywords = ectodermal dysplasia, dysplasia
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15/31. Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

    A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.
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ranking = 0.11817664932477
keywords = ectodermal dysplasia, dysplasia
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16/31. A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.

    We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has in addition distinct retinal angiomas in one eye. This combination of clinical findings has not been reported previously and is probably due to an autosomal recessive gene defect. Laser photocoagulation and cryotherapy has preserved good function in one eye of each child.
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ranking = 6.2452031639733E-7
keywords = defect
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17/31. A patient with onychotrichodysplasia, neutropenia and normal intelligence.

    A 9-year-old boy with onychotrichodysplasia and chronic neutropenia is presented. In contrast to cases described earlier, our patient has normal intelligence. The typical features of trichorrhexis nodosa are shown by electronmicroscopic photography. The chronic neutropenia is discussed and supposed to be part of the so-called lazy leucocyte syndrome.
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ranking = 0.0010486902303723
keywords = dysplasia
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18/31. A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family.

    We encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity.
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ranking = 0.5845911052416
keywords = ectodermal dysplasia, dysplasia
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19/31. Hypohidrotic ectodermal dysplasia with multiple associated anomalies.

    This report concerns an apparently sporadic case of hypohidrotic ectodermal dysplasia with associated congenital anomalies.
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ranking = 1.1028035334592
keywords = ectodermal dysplasia, hidrotic ectodermal dysplasia, dysplasia
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20/31. Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I.

    A solitary case of Trichorhinophalangeal syndrome type I is described. Scanning electron microscopic examination revealed alterations of the cuticular pattern and hair shaft structure. These alterations have not been previously described and differ from those seen in other syndromes belonging to the group of the ectodermal dysplasias e.g. the Trichoonytic Hidrotic ectodermal dysplasia, autosomal recessive Anhidrotic ectodermal dysplasia and X-linked Anhidrotic ectodermal dysplasia.
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ranking = 0.67495785548033
keywords = ectodermal dysplasia, hidrotic ectodermal dysplasia, dysplasia
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