The Experts below are selected from a list of 729 Experts worldwide ranked by ideXlab platform
Hideo Tashiro - One of the best experts on this subject based on the ideXlab platform.
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alveolar synechia Ankyloblepharon and ectodermal disorders an autosomal recessive disorder
American Journal of Medical Genetics, 1991Co-Authors: Masamichi Ohishi, Satoru Ozeki, Hideo TashiroAbstract:: A male patient with alveolar synechia and Ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
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ALVEOLAR SYNECHIA, Ankyloblepharon, AND ECTODERMAL DISORDERS : AN AUTOSOMAL RECESSIVE DISORDER ?
American Journal of Medical Genetics, 1991Co-Authors: Masamichi Ohishi, Satoru Ozeki, Sadako Kai, Hideo TashiroAbstract:A male patient with alveolar synechia and Ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
Reetu Agarwal - One of the best experts on this subject based on the ideXlab platform.
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Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-Ankyloblepharon-nail Disease Syndrome.
International Journal of Trichology, 2018Co-Authors: Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu AgarwalAbstract:Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of Ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "Ankyloblepharon filiforme adnatum", which refers to the partial thickness fusion of the eyelid margins. The "curly hair-Ankyloblepharon-nail disease (CHAND) syndrome" is a clinical variant of AEC syndrome. We report a rare case of a 7-year-old girl child who presented with history of abnormal dentition, 20 nail dystrophy, and light-colored, sparse curly hairs since birth. Parents gave history that at the time of birth, her both eyelids were fused partially, which was surgically corrected by an ophthalmologist at 1 month of age. There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found "bubbly hair" morphology. This case is unique as it is a rare presentation, and awareness should be there for this constellation of findings so that the systemic associations can be investigated. "Bubble hair" morphology on microscopy is a unique feature in this rare autosomal recessive condition.
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rare variant of Ankyloblepharon ectodermal defect cleft lip cleft palate syndrome curly hair Ankyloblepharon nail disease syndrome
International Journal of Trichology, 2018Co-Authors: Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu AgarwalAbstract:Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of Ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "Ankyloblepharon filiforme adnatum", which refers to the partial thickness fusion of the eyelid margins. The "curly hair-Ankyloblepharon-nail disease (CHAND) syndrome" is a clinical variant of AEC syndrome. We report a rare case of a 7-year-old girl child who presented with history of abnormal dentition, 20 nail dystrophy, and light-colored, sparse curly hairs since birth. Parents gave history that at the time of birth, her both eyelids were fused partially, which was surgically corrected by an ophthalmologist at 1 month of age. There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found "bubbly hair" morphology. This case is unique as it is a rare presentation, and awareness should be there for this constellation of findings so that the systemic associations can be investigated. "Bubble hair" morphology on microscopy is a unique feature in this rare autosomal recessive condition.
Masamichi Ohishi - One of the best experts on this subject based on the ideXlab platform.
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alveolar synechia Ankyloblepharon and ectodermal disorders an autosomal recessive disorder
American Journal of Medical Genetics, 1991Co-Authors: Masamichi Ohishi, Satoru Ozeki, Hideo TashiroAbstract:: A male patient with alveolar synechia and Ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
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ALVEOLAR SYNECHIA, Ankyloblepharon, AND ECTODERMAL DISORDERS : AN AUTOSOMAL RECESSIVE DISORDER ?
American Journal of Medical Genetics, 1991Co-Authors: Masamichi Ohishi, Satoru Ozeki, Sadako Kai, Hideo TashiroAbstract:A male patient with alveolar synechia and Ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
Ajay Chopra - One of the best experts on this subject based on the ideXlab platform.
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Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-Ankyloblepharon-nail Disease Syndrome.
International Journal of Trichology, 2018Co-Authors: Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu AgarwalAbstract:Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of Ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "Ankyloblepharon filiforme adnatum", which refers to the partial thickness fusion of the eyelid margins. The "curly hair-Ankyloblepharon-nail disease (CHAND) syndrome" is a clinical variant of AEC syndrome. We report a rare case of a 7-year-old girl child who presented with history of abnormal dentition, 20 nail dystrophy, and light-colored, sparse curly hairs since birth. Parents gave history that at the time of birth, her both eyelids were fused partially, which was surgically corrected by an ophthalmologist at 1 month of age. There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found "bubbly hair" morphology. This case is unique as it is a rare presentation, and awareness should be there for this constellation of findings so that the systemic associations can be investigated. "Bubble hair" morphology on microscopy is a unique feature in this rare autosomal recessive condition.
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rare variant of Ankyloblepharon ectodermal defect cleft lip cleft palate syndrome curly hair Ankyloblepharon nail disease syndrome
International Journal of Trichology, 2018Co-Authors: Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu AgarwalAbstract:Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of Ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "Ankyloblepharon filiforme adnatum", which refers to the partial thickness fusion of the eyelid margins. The "curly hair-Ankyloblepharon-nail disease (CHAND) syndrome" is a clinical variant of AEC syndrome. We report a rare case of a 7-year-old girl child who presented with history of abnormal dentition, 20 nail dystrophy, and light-colored, sparse curly hairs since birth. Parents gave history that at the time of birth, her both eyelids were fused partially, which was surgically corrected by an ophthalmologist at 1 month of age. There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found "bubbly hair" morphology. This case is unique as it is a rare presentation, and awareness should be there for this constellation of findings so that the systemic associations can be investigated. "Bubble hair" morphology on microscopy is a unique feature in this rare autosomal recessive condition.
John A. Mcgrath - One of the best experts on this subject based on the ideXlab platform.
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Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
British Journal of Dermatology, 2010Co-Authors: Suzanne E. Clements, Tanasit Techanukul, S. T. Holden, Jemima E. Mellerio, H. Dorkins, F. Escande, John A. McgrathAbstract:Summary Background Rapp–Hodgkin syndrome (RHS) and Hay–Wells [also known as Ankyloblepharon–ectodermal defects–cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having overlapping clinical features and the same mutated gene, TP63. Objectives To search for TP63 mutations in two unrelated cases of RHS and two of AEC syndrome and to review the TP63 mutation database and clinical descriptions of affected individuals, the goal being to refine genotype–phenotype correlation and to determine the clinical/molecular justification for RHS and AEC continuing to exist as separate entities. Methods Clinical examination of four affected cases and sequencing of genomic DNA using TP63-specific primers. Literature review of published clinical descriptions of RHS and AEC syndrome cases containing TP63 mutation data. Results Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of Ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. We identified two new and two recurrent heterozygous mutations in TP63: c.1456insA (p.Leu486fsX52), RHS; c.1537T>G (p.Phe513Val), RHS; c.1787delG (p.Gly596fsX68), AEC; and c.1682G>A (p.Gly561Asp), AEC. Including this study, 42 different mutations in TP63 in RHS and AEC have now been reported, three of which are exactly the same in both syndromes. Conclusions Our clinicopathological and molecular findings indicate that there is no justification for the continued use of eponyms in referring to these particular ectodermal dysplasia syndromes. We support the view that the terms ‘Hay–Wells’ and ‘Rapp–Hodgkin’ should be abandoned in favour of the all-inclusive diagnosis ‘AEC syndrome’, notwithstanding the inconsistency or often transient nature of the Ankyloblepharon.
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hay wells syndrome is caused by heterozygous missense mutations in the sam domain of p63
Human Molecular Genetics, 2001Co-Authors: John A. Mcgrath, Volker Doetsch, Vesarat Wessagowit, Alexander E Kelly, David J Atherton, Alan D Irvine, Robert M.w. De Waal, Pascal H G Duijf, Kaate R J Vanmolkot, Andrew W D GriffithsAbstract:Hay-Wells syndrome, also known as Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, Ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein--protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes.
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Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
Human Molecular Genetics, 2001Co-Authors: John A. Mcgrath, Volker Doetsch, Vesarat Wessagowit, Alexander E Kelly, David J Atherton, Alan D Irvine, Robert M.w. De Waal, Pascal H G Duijf, Kaate R J Vanmolkot, W Andrew D GriffithsAbstract:Hay-Wells syndrome, also known as Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, Ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein--protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes.