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Ectodermal Dysplasia (Aplasia Cutis Congenita)

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A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

Also Known As:

Aplasia Cutis Congenita; Ectodermal Dysplasia, Anhidrotic; Ectodermal Dysplasias; Clouston Syndrome; Ectodermal Dysplasia, Hydrotic; Hidrotic Ectodermal Dysplasia; Anhydrotic Ectodermal Dysplasia; Congenital Ectodermal Defect; Defect, Congenital Ectodermal; Ectodermal Dysplasia Anhidrotic; Hydrotic Ectodermal Dysplasia; Anhidrotic Ectodermal Dysplasias; Anhidrotic, Ectodermal Dysplasia; Anhidrotics, Ectodermal Dysplasia; Anhydrotic Ectodermal Dysplasias; Cloustons Syndrome; Congenital Ectodermal Defects; Defects, Congenital Ectodermal; Dysplasia Anhidrotic, Ectodermal; Dysplasia Anhidrotics, Ectodermal; Dysplasia, Anhidrotic Ectodermal; Dysplasia, Anhydrotic Ectodermal; Dysplasia, Ectodermal; Dysplasia, Hidrotic Ectodermal; Dysplasia, Hydrotic Ectodermal; Dysplasias, Anhidrotic Ectodermal; Dysplasias, Anhydrotic Ectodermal; Dysplasias, Ectodermal; Dysplasias, Hidrotic Ectodermal; Dysplasias, Hydrotic Ectodermal; Ectodermal Defects, Congenital; Ectodermal Dysplasia, Anhydrotic; Ectodermal Dysplasia, Hidrotic; Ectodermal Dysplasias, Anhidrotic; Ectodermal Dysplasias, Anhydrotic; Ectodermal Dysplasias, Hidrotic; Ectodermal Dysplasias, Hydrotic; Hidrotic Ectodermal Dysplasias; Hydrotic Ectodermal Dysplasias; Syndrome, Clouston's; Anhidrotic Ectodermal Dysplasia; Clouston's Syndrome; Ectodermal Defect, Congenital

Networked: 306 relevant articles (2 outcomes, 9 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
2.	Thalassemia
3.	Anodontia
4.	Infection
5.	Chromosome Aberrations (Chromosome Abnormalities)

Experts

1.	Casanova, Jean-Laurent: 9 articles (08/2008 - 10/2002)
2.	McGrath, J A: 8 articles (04/2009 - 09/2000)
3.	Smahi, Asma: 8 articles (05/2008 - 10/2002)
4.	Puel, Anne: 7 articles (07/2006 - 10/2003)
5.	Chaudhary, Preet M: 5 articles (02/2010 - 11/2002)
6.	Ku, Cheng-Lung: 5 articles (04/2006 - 12/2003)
7.	South, A P: 4 articles (04/2009 - 02/2002)
8.	Bustamante, Jacinta: 4 articles (08/2008 - 12/2003)
9.	Munnich, Arnold: 4 articles (05/2008 - 10/2002)
10.	Bodemer, Christine: 4 articles (05/2008 - 10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ectodermal Dysplasia:

1.	Prostaglandins D (PGD)IBA 01/01/2006 - "Both of the PGD procedures were for the skin fragility-ectodermal dysplasia syndrome. " 01/01/2005 - "Successful therapy with HLA-matched stem cells, obtained from these PGD children, has been achieved already for Diamond-Blackfan anemia hypohidrotic ectodermal dysplasia with immune deficiency and thalassemia." 02/01/2007 - "This paper presents the first cumulative experience (18 cycles) of PGD for detection of the following immunodeficiencies: Wiscott-Aldrich syndrome, X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), ataxia telangiectasia and Omenn syndrome, resulting in the transfer of unaffected embryos in 13 cycles and the birth of seven unaffected children, with one healthy pregnancy ongoing. " 08/01/2004 - "This paper describes the current experience of preimplantation HLA typing, reviewed by the International Meeting on the subject, which includes preimplantation HLA typing in 147 cycles, 109 of which were carried out as part of preimplantation genetic diagnosis (PGD) for Fanconi anaemia, thalassaemia, Wiscott-Aldrich syndrome, hyperimmunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 38 for the sole purpose of HLA typing for leukaemias and aplastic and Diamond-Blackfan anaemias. " 01/01/2005 - "Present experience of preimplantation HLA typing includes preimplantation HLA typing in 180 cycles, 122 of which were done as part of PGD for Fanconi anemia, thalassemia, Wiscott-Aldrich syndrome, hyper-immunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 58 for the sole purpose of HLA typing for leukemias and for aplastic and Diamond-Blackfan anemia. " Order ALL the reference details at left...
2.	Biocompatible Materials (Biomaterials)IBA 09/01/2009 - "Innovations in high throughput genotyping, gene mapping, single nucleotide polymorphisms (SNPs), interference RNA treatments, bioimaging, tissue engineering and related biomimetic approaches to design and fabricate biomaterials, offer enormous promise for the future of ectodermal dysplasias." 09/01/2009 - "For example, investments in the molecular biology of genes and their regulation and function now provide more than 30 candidates for specific biomarkers to improve diagnosis, prognosis, treatments, therapeutics, and biomaterials for ectodermal dysplasias. " Order ALL the reference details at left...
3.	Dental Implants (Dental Implant)IBA 05/01/2008 - "PURPOSE: The purpose of this study was to evaluate patient-specific outcomes and satisfaction using dental implants in a population affected with ectodermal dysplasia. " 07/01/1998 - "PURPOSE: The objective of this study was to assess the pattern of permanent teeth present in a self-selected sample of 17 female and 35 male patients with ectodermal dysplasia presenting for treatment with dental implants. " 05/01/2009 - "PURPOSE: The aims of this article are to critique the available literature on dental implants in patients with ectodermal dysplasia (ED) syndrome and tooth agenesis, review the outcomes of implant therapy in these patients, and provide recommendations on the timing of implant placement for these patients. " 05/01/2009 - "Dental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature." 02/01/2009 - "DISCUSSION: Dental implants are a reliable oral rehabilitation treatment for children presenting with ectodermal dysplasia." Order ALL the reference details at left...
4.	PlakophilinsIBA 03/01/2004 - "In the present study, we describe the first female individuals affected with the ectodermal dysplasia/skin fragility syndrome (MIM604536), a rare autosomal recessive disease due to mutations in the PKP1 gene encoding plakophilin 1, a critical component of desmosomal plaque. " 07/01/2006 - "We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. " 07/01/2006 - "Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1." 03/01/2006 - "Skin fragility-ectodermal dysplasia syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the desmosomal protein, plakophilin 1. Clinically, there may be considerable morbidity from extensive skin erosions and painful fissures on the palms and soles. " 01/01/2005 - "Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome." Order ALL the reference details at left...
5.	Proteins (Proteins, Gene)IBA 01/01/2009 - "We show that the DeltaNp63 isoform is required for IKKalpha expression in differentiating keratinocytes and that mutant p63 proteins expressed in ectodermal dysplasia patients exhibit defects in inducing IKKalpha. " 09/01/2004 - "These results open up the possibility of obtaining large amounts of purified EDA proteins to investigate EDAR/XEDAR related signaling pathways and for the treatment of patients with X-linked hypohidrotic ectodermal dysplasia." 09/01/2002 - "These results demonstrated for the first time that the structural proteins, mucosal addressin cell adhesion molecule 1 and intercellular adhesion molecule 1, are induced by ectodermal dysplasia receptor signal and suggested the potential involvement of mucosal addressin cell adhesion molecule 1 in the morphogenesis of follicular keratinocytes." 05/01/1994 - "S-carboxymethylated (SCM) fibrous proteins (FPs) from the scalp hairs of the three different hereditary hair abnormalities (trichorrhexis invaginata in Netherton's syndrome, pili trianguli et canaliculi in uncombable hair syndrome, and fine hair in anhidrotic ectodermal dysplasia) were analyzed by two-dimensional polyacrylamide gel electrophoresis. " 04/01/2009 - "Immunostaining of patient skin with antibodies raised against key desmosomal proteins demonstrated 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." Order ALL the reference details at left...
6.	AntibodiesIBA 01/01/1988 - "We described one sporadic case of anhydrotic ectodermal dysplasia in a twenty-four year-old man, involving the following ocular manifestations: severe and bilateral keratopathy corneal hypoesthesia involvement of the lacrymal system horizontal nystagmus and a high rate of antilens antibodies not yet reported a far as we know in the literature." 10/01/2006 - "Monocytes, Kupffer cells, and neutrophils in the rat liver were characterized with antibodies to ectodermal dysplasia 1 (ED1), ED2, and myeloperoxidase, respectively. " 04/01/2009 - "Immunostaining of patient skin with antibodies raised against key desmosomal proteins demonstrated 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." Order ALL the reference details at left...
7.	TeratogensIBA 11/01/2006 - "Careful study due to the frequent association of aplasia cutis congenita with other congenital anomalies and a complete obstetric and family history of all affected individuals are required to identify possible specific teratogens, intrauterine infections, chromosomal abnormalities, or history of this condition among relatives." 04/01/1986 - "The condition may be associated with epidermolysis bullosa, specific teratogens or intrauterine infections, or it may occur in the presence of chromosomal abnormalities, ectodermal dysplasias, or other syndromes of malformation. " Order ALL the reference details at left...
8.	Genetic Markers (Genetic Marker)IBA 09/15/1993 - "Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. " 10/01/1988 - "Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. " Order ALL the reference details at left...
9.	Collodion (Nitrocellulose)IBA 05/01/2006 - "Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. " 05/01/2006 - "We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia." 05/01/2006 - "A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane." 01/01/1992 - "[Collodion skin: a misdiagnosed but frequent clinical aspect of anhidrotic ectodermal dysplasia during the neonatal period]" Order ALL the reference details at left...
10.	gamma Catenin (Plakoglobin)IBA 04/01/2009 - "Immunostaining of patient skin with antibodies raised against key desmosomal proteins demonstrated 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." Order ALL the reference details at left...

Therapies and Procedures

1.	Prosthodontics 01/01/2009 - "The purpose of this clinical report was to describe the use of provisional implants in the prosthodontic management of a young ectodermal dysplasia patient." 01/01/2009 - "Prosthodontic rehabilitation of a 10-year-old ectodermal dysplasia patient using provisional implants." 05/01/2007 - "Prosthodontic treatment in patients with ectodermal dysplasia (ED) is difficult to manage because of the oral deficiencies typical in this disorder and because afflicted individuals are quite young when they are evaluated for treatment. " 06/12/2004 - "Orthodontic and prosthodontic treatment of ectodermal dysplasia--a case report." 01/01/2003 - "The prosthodontic rehabilitation of a young girl with the congenital disease of ectodermal dysplasia is presented and discussed." Order ALL the reference details at left...
2.	Prostheses and Implants (Prosthesis) 02/01/2008 - "Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia. " 03/01/2006 - "As a result, in ectodermal dysplasias cases with anadontia, early implant placement and fixed prosthesis could be a good multidisciplinary treatment option for poor cooperative child." 01/01/2004 - "[Removable prosthesis in a 4-year-old child with nursing bottle caries and possible ectodermal dysplasia]" 01/01/1973 - "[Use of an orthodontic prosthesis in anhydrous ectodermal dysplasia]" 09/01/2003 - "Prosthodontic treatment with implant fixed prosthesis for a patient with ectodermal dysplasia: a clinical report." Order ALL the reference details at left...
3.	Transplants (Transplant) 11/01/2007 - "The first consisted of 13 ectodermal dysplasia patients in whom 66 implants with bone grafts and membranes were inserted. " 08/01/2000 - "Bilateral sequential lung transplant for ectodermal dysplasia." 04/01/2000 - "A case is reported of early repair of a cranial defect associated with aplasia cutis congenita using a full-thickness autologous calvarial graft. " 01/01/1983 - "Aplasia cutis congenita of neck and shoulder requiring a skin graft: a case report." 07/01/1979 - "Failure of healing of split-skin graft donor sites in anhidrotic ectodermal dysplasia." Order ALL the reference details at left...
4.	Rehabilitation 04/01/2006 - "The aim of this article is to review possible cranio-maxillofacial deformative consequences associated with hypohidrotic ectodermal dysplasia and embryonic malformations, which include dental ageneses, and describe the oral habilitation. " 11/01/2004 - "Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report." 09/01/2001 - "PURPOSE: The aim of this article is to describe the oral habilitation, over a period of 20 years, of a young patient with hypohidrotic ectodermal dysplasia and agenesis of 15 permanent teeth. " 09/01/2001 - "Prosthetic habilitation of a young patient with hypohidrotic ectodermal dysplasia and oligodontia: a case report of 20 years of treatment." 09/01/2001 - "The role of prosthodontists in habilitation and rehabilitation in rare disorders: the ectodermal dysplasia experience." Order ALL the reference details at left...
5.	Tissue Expansion 05/01/2009 - "Conclusion: Tissue expansion can be used to cover a residual alopecia defect in young children with aplasia cutis congenita and associated bone abnormalities. " 05/01/2009 - "Tissue expansion for correction of baldness in aplasia cutis congenita." 07/01/1996 - "The authors report the use of intraoperative tissue expansion in the treatment of a neonate with aplasia cutis congenita, a congenital defect of the scalp and skull. " 04/01/1997 - "The indications for tissue expansion were congenital pigmented nevus (N = 55), craniofacial anomaly (N = 13), aplasia cutis congenita (N = 7), meningomyelocele (N = 7), posttumor resection (N = 5), unstable scar (N = 4), burn scar (N = 3), and miscellaneous disorders. " Order ALL the reference details at left...

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