"Skin fragility syndrome"

Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Desmosomes are intercellular cadherin-mediated adhesion complexes that anchor intermediate filaments to the cell membrane and are required for strong adhesion for tissues under mechanical stress. One specific component of desmosomes is plakophilin 1 (PKP1), which is mainly expressed

A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.

A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1. Since its initial description in 1997, few individuals with this disorder have been reported to date. Here, we present

Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. Ectodermal dysplasia-skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin-1 (PKP1) deficiency, which results in desmosomal abnormality and poor

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare autosomal recessive genodermatosis resulting from mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1 (PKP1). Mutations in PKP1 may manifest with skin fragility and erosions, patches of scale

fragility syndrome, was highly expressed in teeth and skin, and was upregulated during tooth development. We hypothesized that PKP1 regulates Wnt signaling via its armadillo repeat domain in a manner similar to β-catenin. To determine its role in tooth development, we performed Pkp1 knockdown experiments using ex vivo organ cultures and cell cultures. Loss of Pkp1 reduced the size of tooth germs Plakophilin-1, a Novel Wnt Signaling Regulator, Is Critical for Tooth Development and Ameloblast Differentiation Tooth morphogenesis is initiated by reciprocal interactions between the ectoderm and neural crest-derived mesenchyme, and the Wnt signaling pathway is involved in this process. We found that Plakophilin (PKP)1, which is associated with diseases such as ectodermal dysplasia/skin

fragility syndrome. Nat Genet. 1997 Oct. 17(2):240-4. [QxMD MEDLINE Link]. 29. Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul. 39(7):836-8. [QxMD MEDLINE Link]. 30. Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome ):1341-8. [QxMD MEDLINE Link]. [Full Text]. 27. Suzuki K, Hu D, Bustos T, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug. 25(4):427-30. [QxMD MEDLINE Link]. 28. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin

simplex (caused by BPAG1/BP230 gene mutations) and ectodermal dysplasia skin fragility syndrome (caused by plakophilin gene mutations). The former is characterized by complete alopecia, severe nail involvement, oral and respiratory tract involvement, and superficial sheetlike separations of the skin. The latter is characterized by generalized erosions, palmoplantar keratoderma, painful fissures of EB. J Am Acad Dermatol. 2008 Jun. 58(6):931-50. [QxMD MEDLINE Link]. 4. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr. 67(4):188-91. [QxMD MEDLINE Link]. 5. Ersoy-Evans S, Erkin G, Fassihi H, et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am

fragility syndrome. Nat Genet. 1997 Oct. 17(2):240-4. [QxMD MEDLINE Link]. 29. Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul. 39(7):836-8. [QxMD MEDLINE Link]. 30. Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome ):1341-8. [QxMD MEDLINE Link]. [Full Text]. 27. Suzuki K, Hu D, Bustos T, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug. 25(4):427-30. [QxMD MEDLINE Link]. 28. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin

. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug. 25(4):427-30. [QxMD MEDLINE Link]. 28. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct. 17(2):240-4. [QxMD MEDLINE Link]. 29. Wang X

bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun. 58(6):931-50. [QxMD MEDLINE Link]. 4. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr. 67(4):188-91. [QxMD MEDLINE Link]. 5. Ersoy-Evans S, Erkin G, Fassihi H, et al. Ectodermal dysplasia-skin fragility syndrome

simplex (caused by BPAG1/BP230 gene mutations) and ectodermal dysplasia skin fragility syndrome (caused by plakophilin gene mutations). The former is characterized by complete alopecia, severe nail involvement, oral and respiratory tract involvement, and superficial sheetlike separations of the skin. The latter is characterized by generalized erosions, palmoplantar keratoderma, painful fissures of EB. J Am Acad Dermatol. 2008 Jun. 58(6):931-50. [QxMD MEDLINE Link]. 4. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr. 67(4):188-91. [QxMD MEDLINE Link]. 5. Ersoy-Evans S, Erkin G, Fassihi H, et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am

bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun. 58(6):931-50. [QxMD MEDLINE Link]. 4. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr. 67(4):188-91. [QxMD MEDLINE Link]. 5. Ersoy-Evans S, Erkin G, Fassihi H, et al. Ectodermal dysplasia-skin fragility syndrome

. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug. 25(4):427-30. [QxMD MEDLINE Link]. 28. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct. 17(2):240-4. [QxMD MEDLINE Link]. 29. Wang X

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Ectodermal dysplasia-skin fragility syndrome is a rare autosomal recessive inherited disease characterized by skin fragility, nail dystrophy and hyperkeratosis of palms and soles. Skin biopsy shows the loss of cell adhesion and the decrease of desmosomes in number and size. Mutations in PKP1 have been found to be the underlying cause of the syndrome. We report here a Chinese case of ectodermal dysplasia-skin fragility syndrome. Mutation analysis revealed compound heterozygosity for mutations in PKP1 of the proband. A new splice site mutation (c.1053 T>A+c.1054+1 G>T) near the 3' end of exon 5 and at the donor end of intron 5 on one allele

protein and a member of the armadillo family of structural and signalling proteins. Expressed primarily in the suprabasal layers of stratifying epithelia, plakophilin 1 is absent in patients with the rare autosomal recessive disorder, ectodermal-dysplasia skin-fragility syndrome (OMIM 604536). These patients exhibit skin fragility with trauma induced blistering, especially on the weight-bearing parts

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects disrupted expression of desmoplakin, plakoglobin and desmoglein 1. Additional studies of the family history and of the desmoplakin, plakoglobin and desmoglein 1 genotype for both patients may help further elucidate the molecular cause of this variation on ectodermal dysplasia-skin fragility syndrome.

such as cardiomyopathy. We investigated the molecular basis of two Brazilian patients presenting with clinical features consistent with ectodermal dysplasia-skin fragility syndrome. In patient 1 we identified a homozygous nonsense mutation, p.R672X, in the PKP1 gene (encoding plakophilin 1). This particular mutation has not been reported previously but is similar to the molecular pathology underlying other cases in a phenotype similar to ectodermal dysplasia-skin fragility syndrome resulting from PKP1 mutations but only DSP pathology is associated with cardiac disease.