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    18 results match your criteria Congenital Hypertrichosis Lanuginosa

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    FOXN1 Duplication and Congenital Hypertrichosis.
    Pediatr Dermatol 2017 Mar;34(2):e77-e79
    Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.
    We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Read More
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    Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
    Pediatr Dermatol 2016 Nov 7;33(6):e351-e352. Epub 2016 Sep 7.
    Department of Dermatology, Dijon University Hospital, Dijon, France.
    We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes. Read More
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    Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome".
    Eur J Dermatol 2015 May-Jun;25(3):223-7
    Department of Dermatology, Freiburg University Medical Center, Hauptstr. 7, 79104 Freiburg, Germany.
    Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was erroneously analogized to the portrait paintings of Petrus Gonzales and his children, exhibited in Ambras Castle near Innsbruck, Austria. This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait. Read More
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    Do you know this syndrome?
    An Bras Dermatol 2013 May-Jun;88(3):473-5
    Federal University of Bahia, Prof. Edgar Santos Hospital Complex, Salvador, BA, Brazil.
    Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. Read More
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    Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
    Proc Natl Acad Sci U S A 2013 May 19;110(19):7790-5. Epub 2013 Apr 19.
    Departments of Genetics and Development, Columbia University, New York, NY, USA.
    X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27. Read More
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    Hypertrichosis lanuginosa congenita treated with diode laser epilation during infancy.
    Pediatr Dermatol 2014 Jul-Aug;31(4):529-30. Epub 2012 Oct 2.
    Dermatology Service, Universidad Autónoma de Nuevo León, Hospital Universitario Dr. Jose E. Gonzalez, Monterrey, Mexico.
    We report the case of a girl with hypertrichosis lanuginosa congenita treated with diode laser depilation since the age of 9 months. The treatment was well tolerated, and neither general nor local anesthesia was needed. A reduction of approximately 80% of facial and body hair was noted, which improved her condition significantly. Read More
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    Congenital hypertrichosis (Were Wolf Syndrome): a case report.
    Mymensingh Med J 2012 Jul;21(3):567-9
    Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
    Hypertrichosis is abnormal increase in body hair, when it becomes extensive known as Were Wolf Syndrome. Any part of body can be affected and body hairs are longer and darker. Hairs may be of any type like lanugo, vellous or terminal. Read More
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    The hairy family of Burma: a four generation pedigree of congenital hypertrichosis lanuginosa.
    J R Soc Med 1996 Jul;89(7):403-8
    Department of Rheumatology, University of Lund, Malmö University Hospital, Sweden.
    A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. Read More
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