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At least 1,531 records · Page 85Linked to original sources
PubMed2004

p63 and epithelial appendage development.

Abstract Epithelial appendages share a common developmental program that relies on extensive interactions between epithelia and adjacent mesenchyme. The transcription factor p63 has a critical role in epithelial appendage development in both vertebrates and non-vertebrates. Both mice and zebrafish lacking p63 expression fail to develop epithelial appendages and other structures that develop as a result of epithelial-mesenchymal interactions. Furthermore, dominantly inherited mutations in p63 are the cause of a subset of human ectodermal dysplasias, which are characterized by developmental abnormalities in epithelia and epithelial appendages. While the importance of p63 for epithelial appendage development is evident, the molecular mechanisms by which p63 functions are largely unknown. In this review, we will discuss the current knowledge of the developmental role of p63 and the implications for epithelial appendage development.

Animals↗
PubMed1999

Hypothesis: from epidermal barrier dysfunction to atopic disorders.

The rôle of a genetically-impaired epidermal barrier as the primary cause of the rapid increase in prevalence of atopic dermatitis and respiratory atopy is proposed, based on available clinical and experimental data. The subsequently increased exposure to irritants and allergen postnatally in predisposed individuals would lead in a subset of these to a specific TH2 cell activation favouring the development of IgE responses to atopens. Other routes of sensitization are probably important, but skin offers a good target to implement prevention strategies, so far completely ignored in the prophylactic recommendations given to high-risk families. Candidate genes for skin-barrier impairment are possibly those associated with ichthyosis vulgaris and X-linked hypohidrotic ectodermal dysplasia.

Dermatitis, Atopic↗
PubMed2006

X-chromosome inactivation: role in skin disease expression.

UNLABELLED: The occurrence of X inactivation in mammals has the consequence that all women are functional mosaics. In X-linked skin disorders, Lyonization usually gives rise to a mosaic pattern, as manifest by the appearance of the lines of Blaschko. This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hünermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as hypohidrotic ectodermal dysplasia of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopecia-photophobia) syndrome and X-linked dyskeratosis congenita. Analogous X-inactivation patterns have been documented in human bones, teeth, eyes and, possibly, the brain. Patterns that are distinct from the lines of Blaschko are also seen, such as the lateralization observed in CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, and the chequerboard pattern seen in women heterozygous for X-linked congenital hypertrichosis. Exceptional cases of either severe or absent involvement in a woman heterozygous for an X-linked trait can be explained by skewing of X inactivation. Some X-linked skin disorders are caused by genes that escape inactivation, which is why heterozygous female 'carriers' of these disorders do not show mosaicism. A well-known example is X-linked recessive ichthyosis due to steroid sulphatase deficiency, the locus for which is situated at the tip of the short arm of the X chromosome and does not undergo Lyonization. On the other hand, in the case of Fabry disease, the gene encoding alpha-galactosidase A is subject to inactivation. Remarkably, however, the skin lesions of women do not show a mosaic pattern. CONCLUSION: In the various X-linked skin disorders, affected women show quite dissimilar degrees of involvement and forms of manifestation because X inactivation may give rise to different patterns of functional mosaicism. Paradoxically, no such pattern is observed in women with Fabry disease. Like many X-linked diseases, Fabry disease should neither be called recessive nor dominant, because these dichotomous terms are obscured by the mechanism of X inactivation.

Fabry Disease↗
PubMed1988

The KID-syndrome in Finland. A report of four cases.

We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.

Adolescent↗
PubMed1988

Regional choroidal atrophy and alopecia. A new syndrome.

Two siblings with total regional choroidal atrophy and other manifestations of ectodermal dysplasia are presented. The mode of inheritance is uncertain, but mild macular disease in the father may represent heterozygote manifestation of a recessive condition.

Adult↗
PubMed2002

The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation.

IkappaB kinase gamma (IKKgamma) (also known as NEMO, Fip-3, and IKKAP-1) is the essential regulatory component of the IKK complex; it is required for NF-kappaB activation by various stimuli, including tumor necrosis factor alpha (TNF-alpha), interleukin 1 (IL-1), phorbol esters, lipopolysaccharides, and double-stranded RNA. IKKgamma is encoded by an X-linked gene, deficiencies in which may result in two human genetic disorders, incontinentia pigmenti (IP) and hypohidrotic ectodermal dysplasia with severe immunodeficiency. Subsequent to the linkage of IKKgamma deficiency to IP, we biochemically characterized the effects of a mutation occurring in an IP-affected family on IKK activity and NF-kappaB signaling. This particular mutation results in premature termination, such that the variant IKKgamma protein lacks its putative C-terminal Zn finger and, due to decreased mRNA stability, is underexpressed. Correspondingly, IKK and NF-kappaB activation by TNF-alpha and, to a lesser extent, IL-1 are reduced. Mutagenesis of the C-terminal region of IKKgamma was performed in an attempt to define the role of the putative Zn finger and other potential functional motifs in this region. The mutants were expressed in IKKgamma-deficient murine embryonic fibroblasts (MEFs) at levels comparable to those of endogenous IKKgamma in wild-type MEFs and were able to associate with IKKalpha and IKKbeta. Substitution of two leucines within a C-terminal leucine zipper motif markedly reduced IKK activation by TNF-alpha and IL-1. Another point mutation resulting in a cysteine-to-serine substitution within the putative Zn finger motif affected IKK activation by TNF-alpha but not by IL-1. These results may explain why cells that express these or similar mutant alleles are sensitive to TNF-alpha-induced apoptosis despite being able to activate NF-kappaB in response to other stimuli.

Amino Acid Motifs↗
PubMed2005

DNA-binding and transactivation activities are essential for TAp63 protein degradation.

The p53-related p63 gene encodes six isoforms with differing N and C termini. TAp63 isoforms possess a transactivation domain at the N terminus and are able to transactivate a set of genes, including some targets downstream of p53. Accumulating evidence indicates that TAp63 plays an important role in regulation of cell proliferation, differentiation, and apoptosis, whereas transactivation-inert deltaNp63 functions to inhibit p63 and other p53 family members. Mutations in the p63 gene that abolish p63 DNA-binding and transactivation activities cause human diseases, including ectrodactyly ectodermal dysplasia and facial clefting (EEC) syndrome. In this study, we show that mutant p63 proteins with a single amino acid substitution found in EEC syndrome are DNA binding deficient, transactivation inert, and highly stable. We demonstrate that TAp63 protein expression is tightly controlled by its specific DNA-binding and transactivation activities and that p63 is degraded in a proteasome-dependent, MDM2-independent pathway. In addition, the N-terminal transactivation domain of p63 is indispensable for its protein degradation. Furthermore, the wild-type TAp63gamma can act in trans to promote degradation of mutant TAp63gamma defective in DNA binding, and the TA domain deletion mutant of TAp63gamma inhibits transactivation activity and stabilizes the wild-type TAp63 protein. Taken together, these data suggest a feedback loop for p63 regulation, analogous to the p53-MDM2 feedback loop.

Amino Acid Motifs↗
PubMed1979

Re-evaluation of CHANDS.

A rare ectodermal dysplasia with the acronym CHANDS (Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome) was described by Baughman (1971) as being a new autosomal dominant condition. Additional pedigree data obtained after the original report indicate that the mode of inheritance is more likely to be autosomal recessive, with an instance of quasi-dominant transmission as a result of multiple consanguineous matings in the family. These data are provided in this report.

Ataxia Telangiectasia↗
PubMed2000

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. The condition may occur as part of a recognised syndrome or may occur as an isolated finding. Both autosomal dominant and recessive forms of Mendelian transmission have been reported for PPP. We report a consanguineous Jordanian family with four members affected by PPP in two nuclear sibships. The parents of the affected subjects are first cousins. We have localised a gene of major effect for PPP in this kindred (Zmax=3.55 for D11S901 at theta=0.00) to a 14 cM genetic interval on chromosome 11q14 flanked by D11S916 and D11S1367. This PPP candidate interval overlaps the region of chromosome 11q14 that contains the cathepsin C gene responsible for Papillon-Lefèvre and Haim-Munk syndromes. Sequence analysis of the cathepsin C gene from PPP affected subjects from this Jordanian family indicated that all were homozygous for a missense mutation (1040A-->G) that changes a tyrosine to a cysteine. All four parents were heterozygous carriers of this Tyr347Cys cathepsin C mutation. None of the family members who were heterozygous carriers for this mutation showed any clinical findings of PPP. None of the 50 controls tested were found to have this Tyr347Cys mutation. This is the first reported gene mutation for non-syndromic periodontitis and shows that non-syndromic PPP is an allelic variant of the type IV palmoplantar ectodermal dysplasias.

Aggressive Periodontitis↗
PubMed2005

[Underlying causes of recurrent pneumonia].

OBJECTIVE: To determine the relative frequency and describe the predisposing causes of recurrent pneumonia in infants and children aged between 1 month and 14 years. METHODS: We retrospectively reviewed the medical records of a tertiary care pediatric hospital covering a 10-year period, from January 1994 through December 2003. Children with cystic fibrosis were not included in the analysis. Recurrent pneumonia was defined as at least two pneumonia episodes in a 1 year period or at least three episodes over a lifetime. RESULTS: Of 1644 children hospitalized with pneumonia, 106 (6.4 %) met the criteria for recurrent pneumonia. An underlying cause was identified in 92 patients (86.7 %). Of these, the underlying cause was diagnosed prior to pneumonia in 67 (72.8 %), during the first episode in 12 (13 %) and during recurrence in 13 (14.1 %). Underlying causes included asthma in 28 patients (30.4 %), congenital cardiac defects in 27 patients (29.3 %), aspiration syndrome in 25 patients (27.1 %), immune disorder in nine patients (9.7 %), pulmonary anomalies in two patients (2.1 %), and anhidrotic ectodermal dysplasia in one patient (1 %). CONCLUSIONS: Recurrent pneumonia occurred in 6.4 % of all children hospitalized for pneumonia. The underlying cause was identified in 86.7 % of the children. The most common causes were asthma, congenital cardiac defects, and aspiration syndrome.

Age Factors↗
PubMed1998

Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.

Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. The most impressive genodermatoses with punctate and reticulate pigmentation affecting the neck are the Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis and dyskeratosis congenita. Reticulate pigmented anomaly of the flexures and lentiginosis, disorders of cornification and related entities are further genodermatoses which may involve the neck. In our review we have integrated inherited dermatoses which do not obligatorily affect the neck but have been well documented to do so. Our work should give the clinician a checklist on genodermatoses which may produce reticulate and mottled pigmentation on the neck.

Humans↗
PubMed1998

Palmoplantar keratoderma and leukokeratosis anogenitalis: the second case of a new disease.

An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a diffuse, nonprogressive PPK in combination with an intermittently pruritic, slowly progressive anogenital leukokeratosis. Hyperkeratosis of the perineal area was most pronounced and extended to the distal portion of the anal mucosa. The opalescent lesion was also visualized at the margin of the major labia. Vulvar structures were not otherwise involved or dystrophic. There were no signs or symptoms of ectodermal dysplasia. Specifically, the nails were normal and showed no signs of pachyonychia congenita. Other differential diagnoses included dyskeratosis congenita and white sponge nevus, which may be associated with anogenital leukokeratosis, but a keratoderma is not associated with these entities. Keratin immunocytochemistry showed marked expression of suprabasal K17 and absence of K6 and K16. Further examination of the initial case described by Itin and Rufli demonstrated the same expression pattern and supports the contention that these two cases represent the same entity.

Adult↗
PubMed2005

V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I.

Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19-year-old female with typical TRPS I who developed unique V-shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.

Abnormalities, Multiple↗
PubMed1988

Familial medullary sponge kidney in association with congenital absence of teeth (anodontia).

Medullary sponge kidney was found in association with congenital absence of teeth (anodontia) in 3 siblings of a single family. Anodontia occurs in the rare familial syndrome of ectodermal dysplasia, but its association with a renal (mesodermal) anomaly is not known. The present report lends further support to a possible hereditary etiology for medullary sponge kidney.

Adult↗
PubMed1995

Hereditary hypotrichosis simplex of the scalp.

We report on a female aged 13 years, whose scalp hair began to disappear at the age of 9 years, leaving only sparse wispy hairs in the parietal-occipital region. Eyelashes, eyebrows and body hair were unaffected. There were no signs of ectodermal dysplasia on the skin, nails, teeth and eyes nor other congenital abnormalities. The family pedigree showed 15 relatives similarly affected according to an autosomal dominant mode of transmission. Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scalp (Toribio-Quiñones type).

Adolescent↗
PubMed1984

Unilateral skin lesions associated with multiple neoplasms.

A girl with unilateral partly depigmented, partly hyperpigmented atrophic skin lesions, hypertrichosis, postauricular nodules, cataracts, and mild mental retardation is presented. Additionally, she developed multiple neoplasms as optic glaucoma, a psammomatous meningioma and an ameloblastoma. It remains unclear whether our patient suffers from a variant of the epidermal nevus syndrome or a new neuro-ectodermal dysplasia.

Adolescent↗
PubMed1998

Anaesthetic implications of Maffucci's syndrome.

Maffucci's syndrome is a rare, congenital disease due to neuro-ectodermal dysplasia and is characterized by enchondromatosis and multiple soft tissue haemangiomata. A case of Maffucci's syndrome with haemangiomata along the upper airways requiring laser surgery is described. The literature on Maffucci's syndrome is reviewed.

Adult↗
PubMed2004

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes. To investigate the molecular basis of HIGM, we determined the prevalence of mutations affecting these 5 genes in a cohort of 140 patients (130 males and 10 females). Those patients without a molecular diagnosis were subsequently evaluated for mutations of the following genes: inducible CO-stimulator molecule (ICOS), ICOS ligand (ICOSL), and if male, Bruton tyrosine kinase (Btk) and SLAM-associated protein (SAP/SH2D1A). We found mutations of CD40L in 98 males; AICDA in 4 patients (3 males, 1 female); UNG in one adult male; and Btk in 3 boys. Of the remaining 25 males, one infant with hypohidrotic ectodermal dysplasia had a mutation of NEMO. None of the remaining 33 patients (24 males/9 females) had mutations affecting CD40, ICOS, ICOSL, or SH2D1, and are best classified as common variable immune deficiency (CVID), although other genes, including some not yet identified, may be responsible.

Adult↗