Literature DB >> 28025844

Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia.

Nicole S Gunasekera1,2, Joan K Divito1, Thomas S Kupper1,2, Jennifer T Huang2,3, Sherrie J Divito1,2.   

Abstract

Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross-sectional survey-based study explored these gaps in knowledge and provides direction for future avenues of research in FDH.
© 2016 Wiley Periodicals, Inc.

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Year:  2016        PMID： 28025844      PMCID： PMC5483175          DOI： 10.1111/pde.13056

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  5 in total

1.  Focal dermal hypoplasia syndrome. An update.

Authors:  R W Goltz
Journal:  Arch Dermatol       Date:  1992-08

2.  Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.

Authors:  J Sheu; S J Divito; E P Hoffman; N Y Frank; J F Merola
Journal:  Br J Dermatol       Date:  2015-06-06       Impact factor: 9.302

3.  Focal dermal hypoplasia syndrome. Case report and literature review.

Authors:  E H Hall; G T Terezhalmy
Journal:  J Am Acad Dermatol       Date:  1983-09       Impact factor: 11.527

4.  Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Authors:  Xiaoling Wang; V Reid Sutton; J Omar Peraza-Llanes; Zhiyin Yu; Rebecca Rosetta; Ying-Chuck Kou; Tanya N Eble; Ankita Patel; Christina Thaller; Ping Fang; Ignatia B Van den Veyver
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

5.  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
  5 in total
  1 in total

Review 1.  The Regulation of Bone Metabolism and Disorders by Wnt Signaling.

Authors:  Kazuhiro Maeda; Yasuhiro Kobayashi; Masanori Koide; Shunsuke Uehara; Masanori Okamoto; Akihiro Ishihara; Tomohiro Kayama; Mitsuru Saito; Keishi Marumo
Journal:  Int J Mol Sci       Date:  2019-11-06       Impact factor: 5.923
  1 in total

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