Cases reported "Hypotrichosis"

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11/79. Congenital hypotrichosis due to short anagen.

    Two children with congenital hypotrichosis are described. Both presented with persistent short, fine hair since birth. Evidence is provided that the short hair observed in these patients is due to a short anagen phase of the hair cycle, with a normal rate of hair growth. Shortening of the anagen phase of the scalp hair cycle leads to a decrease in the maximal hair length and an increase in the number of hairs in telogen, resulting in an increase in hair shedding. Scanning electron microscopy showed a widely spaced cuticular pattern, a finding typically seen in hair of thin calibre. One patient had affected family members with an apparently autosomal dominant mode of inheritance. The disorder appears to resolve spontaneously during puberty and adulthood. ( info)

12/79. 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. ( info)

13/79. Almost complete absence of the scalp and body hair in association with oligodontia and zygodactylous palmar triradii.

    We describe an 18-year-old girl with a distinctive facial appearence, almost complete absence of the scalp and body hair, absence of the eyebrows and eyelashes, oligodontia, conically shaped maxillary central incisors and zygodactylous palmar triradii suggesting for syndactyly type I. ( info)

14/79. 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. ( info)

15/79. hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

    We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome. ( info)

16/79. 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. ( info)

17/79. Marie Unna hypotrichosis in a Chinese family.

    Marie Unna hypotrichosis is a rare, autosomal dominant hypotrichosis characterized by sparse or absent hair at birth with regrowth of coarse, wiry hair from childhood, followed by progressive loss on approaching puberty. We report a Chinese mother and child seen at our skin center with features of Marie Unna hypotrichosis. The family pedigree showed two affected sisters and one affected brother, consistent with an autosomal dominant mode of inheritance. The clinical, genetic, histologic, and ultrastructural features were consistent with the diagnosis of Marie Unna hypotrichosis. This is the first Chinese family reported. ( info)

18/79. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin c.

    We report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions. The syndrome resembles Papillon-Lefevre syndrome (PLS), characterized by palmoplantar keratoderma, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of PLS with acro-osteolysis. Both are caused by mutations in the cathepsin c gene (CTSC). Our patients differ in the unique nature of the palmar keratoderma and hypotrichosis. We have sequenced CTSC in the mother without finding mutations in either coding or non-coding parts of the gene. We propose that our patients suffer from a new syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC. ( info)

19/79. Chronic telogen effluvium in a man.

    Chronic telogen effluvium is a recently described condition, in which there is persistent excessive hair shedding. Hairs are replaced as quickly as they shed, so patients never become bald. This condition is found primarily in women. We describe chronic telogen effluvium in a man; the diagnosis may have only become obvious because of his long hair. ( info)

20/79. Tricho-rhino-phalangeal syndrome. The first case in japan.

    The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ( info)
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