Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ECTODERMAL DYSPLASIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,333 records · Page 74Linked to original sources
PubMed1984

[Christ-Siemens-Touraine syndrome. A new case].

A patient with anhidrotic ectodermal dysplasia presented the three classical symptoms necessary to establish an early diagnosis: hypotrichosis, absence or reduction in number of teeth, and absence or diminution of sweat glands. Radiological examination of the maxillary bones (particularly a panoramic image) and skin biopsy provided confirmation of diagnosis. The course of Christ-Siemens syndrome is dominated by the extent of the thermal disorders during the first three months of life, and the functional and psychological disturbances related to the absence of the teeth and to the "appearance" of the patient.

Child↗
PubMed2005

Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation.

Septicemia is a life-threatening condition that may lead to sepsis and even septic shock. This cascade is usually accompanied by a pronounced inflammatory response, leading to high body temperature and elevated levels of laboratory markers of inflammation. However, this response can be significantly diminished in children with inherited disorders of nuclear factor (NF)-kappa B-mediated immunity. Three disease-causing genes involved in NF-kappa B activation have been identified: NEMO, IKBA, and IRAK4. Patients with anhidrotic ectodermal dysplasia and immunodeficiency, which is caused by mutations in NEMO and IKBA, have sparse hair, dry skin, and conical teeth and are at increased risk of severe infections caused by pyogenic bacteria and atypical mycobacteria. Patients with interleukin-1 receptor-associated kinase-4 deficiency are at increased risk of invasive disease due to pyogenic bacteria. An underlying defect in NF- kappa B activation should be suspected in children with bacterial septicemia accompanied by mild signs of inflammation.

Ectodermal Dysplasia↗
PubMedDate not supplied

A new type of pachyonychia congenita.

We describe two patients with an apparently unique autosomal dominant ectodermal dysplasia. Symptoms consist of thickening of all nails as seen in pachyonychia congenita and severe generalized hypotrichosis. No other abnormalities were present. Histopathological examination of scalp skin showed a reduction in the number of hair follicles, but other abnormalities were not found. Direct sequencing of the keratins known to be associated with pachyonychia congenita, Krt 6a, 6b, 16 and 17, failed to detect mutations. This suggests that this may be a new type of pachyonychia caused by a mutation in a so-called hard keratin.

Aged↗
PubMed1997

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

Members of the armadillo protein gene family, which includes plakoglobin and beta-catenin, have important functions in cytoskeleton/cell membrane interactions. These proteins may act as linker molecules at adherens junctions and desmosomes at the plasma membrane; in addition, they may have pivotal roles in signal transduction pathways and significant effects on cell behaviour during development. Here, we describe the first human mutations in one of these dual function proteins, plakophilin 1 (band-6 protein; refs 8-10). The affected individual has a complete absence of immunostaining for plakophilin 1 in the skin and is a compound heterozygote for autosomal-recessively inherited premature termination codons of translation on both alleles of the plakophilin 1 gene (PKP1). Clinically, there are features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. The molecular findings and clinical observations in this patient attest to the dual importance of plakophilin 1 in both cutaneous cell-call adhesion and epidermal morphogenesis.

Base Sequence↗
PubMed2001

Novel keratin 17 mutations in pachyonychia congenita type 2.

Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.

Base Sequence↗
PubMed2000

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.

Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). In this report, we describe a 35-year-old woman with EEC syndrome and document a heterozygous germline missense mutation, R304W, in exon 8 of the p63 gene. As with most other p63 mutations in EEC syndrome, this mutation has arisen de novo and is located within the core DNA-binding domain of p63. Identification of this mutation has implications for genetic counselling and the feasibility of future DNA-based prenatal diagnosis in this individual.

Abnormalities, Multiple↗
PubMed1989

The EEC syndrome and its ocular manifestations.

The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings. Lacrimal surgery was performed on three patients with good results in each case. We also report the occurrence of spontaneous corneal perforation in two cases, a complication not previously recognised. The ophthalmic care of these patients must be pursued long-term, as progressive visual impairment may be the most disabling feature of the syndrome.

Abnormalities, Multiple↗
PubMed1997

[The Clark-Howel-Evans-McConnell syndrome. Observations in one family over 5 generations].

The Clarke-Howel-Evans-McConnell syndrome is a rare hereditary disease characterized by palmoplantar keratoses, squamous cell carcinoma of the esophagus and oral leukoplakia. According to a new classification recently proposed by Stevens and colleagues, the syndrome can also be classified as palmoplantar ectodermal dysplasia type III. We report a family from the Black Forest region of Germany afflicted with the syndrome. The family was traced through five generation. 27 of 46 family members showed tylotic skin changes. In addition, 8 patients showed oral leukoplakia and 5 died from squamous cell carcinoma of the esophagus. Using screening examinations, early changes of the esophageal mucosa could be detected. The responsible gene has been mapped in the family. It is located at 17q23-qter, telomeric to the keratin II gene cluster. Therefore a defect in one of the well known keratin genes can be excluded as a cause of the syndrome.

Adult↗
PubMed2000

[Congenital pachyonychia type II (Jackson-Lawler syndrome)].

Pachyonychia congenita (PC) is a rare ectodermal dysplasia with variable expression. The condition is usually inherited as an autosomal dominant trait. Several classifications of PC have been proposed. Feinstein and colleagues suggested four clinical types of PC. Type II, the Jackson-Lawler-Syndrome, is characterized by multiple epidermal cysts, palmoplantar bullae and hyperhidrosis as well as natal teeth in addition to the main findings of pachyonychia, palmoplantar hyperkeratosis and follicular keratosis. We report two patients (father and son) with Jackson-Lawler-Syndrome and describe in detail pathogenesis, diagnostic criteria and treatment approaches as well as the different classifications of pachyonychia congenita.

Adolescent↗
PubMed1992

Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature.

Dyskeratosis congenita (DC) is a rare form of ectodermal dysplasia consisting of dystrophic nails, hyperpigmentation, and leukoplakia often associated with aplastic anemia. DC is considered to be an X-linked recessive trait, but affected females suggest genetic heterogeneity. We report an additional female with DC and review the world literature, indicating transmission in X-linked recessive, autosomal recessive, and autosomal dominant manners. The clinical and genetic aspects of DC are heterogeneous, and different patterns of inheritance are associated with distinct clinical manifestations. DC should be considered in the diagnosis of a patient with any features of the syndrome regardless of gender. Conversely, DC should be considered in patients with aplastic anemia at any age.

Adolescent↗
PubMed2006

Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome.

Ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is a rare condition that may result in failure of breast development. Breast reconstruction in these patients may pose a challenging problem, as they are young and reconstructive options should have minimal long-term complications. The use of deep inferior epigastric perforator (DIEP) flaps in breast reconstruction following breast cancer has been well described with good results. The use of DIEP flaps in breast augmentation, however, is far less common. We present the case of a young patient with EEC syndrome and mammary hypoplasia who underwent DIEP flap reconstruction for breast augmentation. The outcome was satisfactory to both patient and surgeon.

Adolescent↗
PubMed2004

Inherited disorders of NF-kappaB-mediated immunity in man.

The transcription factors of the NF-kappaB family play an important role in immunity to infection in animal models. Three human primary immunodeficiencies associated with impaired NF-kappaB signaling were recently described. X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB-kinase (IKK) complex. Autosomal dominant EDA-ID (AD-EDA-ID) is caused by a hypermorphic mutation in the gene encoding the inhibitory protein IkappaBalpha. Autosomal recessive immunodeficiency without EDA is caused by mutations in the gene encoding IRAK-4, a kinase acting upstream from the IKK complex in the TIR signaling pathway. The description of the infectious phenotypes associated with these genetic defects has initiated the forward genetic dissection of NF-kappaB-mediated immunity in man.

Animals↗
PubMed2005

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre.

BACKGROUND: Microscopic examination of scalp hair can provide important diagnostic information in a range of paediatric conditions. It is a non-invasive and cost effective investigation, which is not widely performed. AIMS: To examine retrospectively the value of hair examination by light microscopy, including polarising microscopy, in a specialist paediatric pathology department during a 15 year period (1989-2004) and to describe the morphological abnormalities indicative of specific paediatric conditions. METHODS: Three hundred and twenty two hair samples were submitted. Microscopic changes were analysed in the light of clinical information categorised as: (1) erythroderma, (2) neurological impairment, (3) immunological/haematological defect, (4) ectodermal dysplasia, (5) abnormal hair only, and (6) non-specific/absent clinical details. RESULTS: Abnormalities were evident in 49% of the samples. In 25%, the changes were compatible with specific diagnoses including Menkes disease, Netherton's syndrome, trichothiodystrophy, Griscelli and Chediak-Higashi syndromes, monilethrix, uncombable hair, and loose anagen syndromes. In respect of the clinical presentation groups noted above, diagnostic changes were seen in 41%, 32%, 33%, 0%, 29%, and 0%, respectively. CONCLUSIONS: Morphological light microscopic examination of scalp hair is an inexpensive, rapid, and non-invasive investigation, which can provide valuable diagnostic information in a range of paediatric conditions.

Adolescent↗
PubMed1998

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate into etiologically distinct disorders. One approach to the identification of relevant genes is to take advantage of unique extended kindreds in which a defect in limb patterning is segregating. Recently, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defects (EEC) was described by Maas et al. We have studied this kindred and localized a gene causing EEC to a locus on chromosome 19, in a region defined by D19S894 and D19S416. A second extended kindred with EEC does not map to this locus, indicating that EEC is a genetically heterogeneous disorder. Growth and patterning of the limbs, teeth, hair, and genitourinary system are mediated in part by epithelial-mesenchyme inductive interactions. The identification of both the gene causing EEC and its mutation may further elucidate the general signals mediating inductive mechanisms.

Abnormalities, Multiple↗
PubMed2006

Epidermal and craniofacial defects in mice overexpressing Klf5 in the basal layer of the epidermis.

Krüppel-like factor5 (Klf5) is a zinc-finger transcription factor normally expressed in the skin. Here, we show that overexpression of Klf5 in the basal layer of the epidermis during embryogenesis affects epidermal development and disrupts epithelial-mesenchymal interactions necessary for skin adnexae formation as well as craniofacial morphogenesis. The transgenic mice exhibited exencephaly, craniofacial defects, persistent abdominal herniation and ectodermal dysplasia. Moreover, the epidermis was hypoplastic and underwent abnormal differentiation with expression of keratin8, a marker for single-layered epithelia, in the stratified epidermis. Correspondingly, we observed a downregulation of DeltaNp63 expression in the skin. Overexpression of Klf5 in adult mice led to hyperkeratosis, follicle occlusion and epidermal erosions. Further, we observed decrease and even loss of the stem cell population of bulge keratinocytes, as characterized by the expression pattern of alpha6 integrin and CD34 markers. Our data suggest a new role of Klf5 as a modulator of p63 expression and the differentiation program of epidermal cells relevant for regenerative potential of the epidermis and epithelial-mesenchymal interactions.

Animals↗
PubMedDate not supplied

The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.

Abnormalities, Multiple↗
PubMed1996

The EEC syndrome: a literature study.

Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not really seem to be part of it. Conductive hearing loss is associated with clefting. A score for the severity of symptoms in the EEC syndrome is described, and using this score it appears that isolated cases are generally more severely affected than familial cases. We did not find signs of genomic imprinting or anticipation in published EEC families. We did find, however, that interfamilial variability is significantly larger than intrafamilial variability, pointing to genetic (allelic?) heterogeneity. The penetrance of the EEC-mutation is estimated to be between 93% and 98%.

Abnormalities, Multiple↗
PubMed1998

YAC rescue of downless locus mutations in mice.

Mice with mutations at the downless (dl) locus have defects in hair follicle, tooth, sweat gland, preputial gland, Meibomian gland, and tail development. The dl phenotype is analogous to the human genetic disorder termed autosomal hypohidrotic (or anhidrotic) ectodermal dysplasia (HED). On the basis of the identification of two related transgenic insertional mutations in the downless gene, yeast artificial chromosomes (YACs) were identified that map to the critical region of mouse Chromosome (Chr) 10. To determine which of the YACs contain the dl gene, we generated YAC transgenic mice by mouse embryo microinjections. The 200-kb YAC B25.D9 was found to rescue all of the downless defects. In addition, the transgenic YAC rescued the dominant Sleek (Dlslk) allele. Since the sequences within the YAC are entirely deleted in one of the transgenic mutants, our results establish that Sleek encodes a dominant-negative protein whose effects can be reversed by expression of extra copies of the wild-type locus.

Alleles↗