Literature DB >> 21681541

[Giant papillomas of the tongue and pharynx in focal dermal hypoplasia: a case report].

T Kornek1, M Augustin, K Krause, I U Teudt, K Neuber, K Herberger.   

Abstract

Focal dermal hypoplasia is a rare congenital syndrome with dominant X-linked mode of inheritance characterized by a wide range of meso-ectodermal anomalies. The clinical variation is great, as explained by the Lyon hypothesis and mosaicism. Findings include skin atrophy along the lines of Blaschko and papillomas. Our case is striking with rapidly-growing giant pharyngeal papillomas which caused dysphagia and required resection.

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Year:  2012        PMID: 21681541     DOI: 10.1007/s00105-011-2186-x

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  9 in total

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Journal:  Lancet       Date:  1963-06-08       Impact factor: 79.321

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Authors:  M F LYON
Journal:  Am J Hum Genet       Date:  1962-06       Impact factor: 11.025

4.  Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.

Authors:  M Vreeburg; M van Geel; L G T van den Heuij; P M Steijlen; M A M van Steensel
Journal:  J Eur Acad Dermatol Venereol       Date:  2011-05       Impact factor: 6.166

5.  Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.

Authors:  N Gordjani; S Herdeg; U H Ross; H Grimme; M Kleinschmidt; M Brandis
Journal:  Eur J Dermatol       Date:  1999-12       Impact factor: 3.328

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Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962

7.  A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy.

Authors:  R Mallipeddi; S I Chaudhry; C R Darley; H A Kurwa
Journal:  Clin Exp Dermatol       Date:  2006-03       Impact factor: 3.470

8.  Focal dermal hypoplasia (Goltz syndrome) associated with multiple giant papillomas.

Authors:  S Kore-Eda; K Yoneda; T Ohtani; T Tachibana; F Furukawa; S Imamura
Journal:  Br J Dermatol       Date:  1995-12       Impact factor: 9.302

9.  Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Authors:  Karl-Heinz Grzeschik; Dorothea Bornholdt; Frank Oeffner; Arne König; María del Carmen Boente; Herbert Enders; Barbara Fritz; Michael Hertl; Ute Grasshoff; Katja Höfling; Vinzenz Oji; Mauro Paradisi; Christian Schuchardt; Zsuzsanna Szalai; Gianluca Tadini; Heiko Traupe; Rudolf Happle
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

  9 in total

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