Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019829 (Hodgkin's disease)
 30,247 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.
 ...
PMID:Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. 834 78

We have reported on six personally examined patients with Rapp Hodgkin syndrome and four additional family members with documentation suggesting strongly that they also were affected with the disorder. Clinical manifestations observed in our patients include cleft lip/palate/uvula, ectodermal dysplasia, and hypospadias in males. The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. In addition, ptosis, atretric ear canals, and dysplastic eustachian orifices are suggested as other manifestations of the disorder.
 ...
PMID:Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). 317 24

Rapp-Hodgkin syndrome (RHS) is a rare form of ectodermal dysplasia with variable involvement of the hair, eyes, sweat glands, nails, and teeth. Oral findings may include hypodontia, hypoplastic enamel, cleft lip/palate, and a pronounced midfacial hypoplasia. The objective of this study was to determine if the pronounced midfacial hypoplasia is the result of a true tissue hypoplasia or displacement of midfacial tissues. We have identified a family in which three members, a mother and two daughters, display clinical features characteristic of RHS. Clinical and intraoral examination of these affected persons showed manifestations characteristic of RHS, and several new findings were observed, including subcutaneous abscesses, palmoplantar keratosis, and keratotic lesions located on the chest and trunk. To assess the midfacial hypoplasia, lateral cephalometric analysis was performed on lateral headplates. Results of the cephalometric analysis suggest that the midfacial hypoplasia results from both a deficiency and a displacement of the maxilla. These findings are significant because successful dental treatment of RHS relies upon accurate assessment of current and projected orofacial development, particularly for the skeletal relations of the maxilla and mandible.
 ...
PMID:Cephalometric analysis of Rapp-Hodgkin syndrome. 783 51

Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes.
 ...
PMID:[Pili torti et canaliculi in ectodermal dysplasia]. 807 Oct 68

Uncombable hair syndrome was first described some 3 decades ago as "cheveux incoiffables" and is also known as spun-glass hair and pili trianguli et canaliculi. Both inherited (autosomal dominant and recessive with variable levels of penetrance) and sporadic forms of uncombable hair syndrome have been described, both being characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature of hair in this syndrome is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair in at least 50% of hairs examined by scanning electron microscopy. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. Only the scalp hair is affected. Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth enamel anomalies, oligodontia, and phalangoepiphyseal dysplasia. Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome; ectodermal dysplasia, ectrodatyly, cleft lip/palate (EEC) syndrome; and familial tricho-odonto-onchyial ectodermal dysplasia with syndactyly. Unlike other conditions with an uncombable hair component, uncombable hair syndrome alone (cheveux incoiffables, pili trianguli et canaliculi) is not associated with physical, neurologic, or mental abnormalities. In most cases of uncombable hair syndrome, the hair is grossly abnormal in infancy and early childhood, but may have improved manageability later in life. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected uncombable hair syndrome and eliminates other hair abnormalities from the differential diagnosis.
 ...
PMID:Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis. 1140 34

The Rapp-Hodgkin syndrome (RHS, MIM 129400) corresponds to a rare form of anhydrotic ectodermal dysplasia, which shares some features with the ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC, MIM 604292) resulting from TP63 mutations. We report here, in two unrelated patients with RHS, the identification of two distinct TP63 mutations, corresponding to a novel frameshift mutation (1709DelA, exon 14) located downstream the sterile alpha motif (SAM) domain and to a missense mutation (R279H, exon 7) within the DNA binding domain. Functional analysis of the R279H mutation, which had previously been reported in several EEC families, shows that this mutation disrupted the dominant negative activity of the DeltaNp63alpha and gamma isoforms on the transcriptional activity of TP53. This report shows, on a molecular basis, that RHS is also an EEC-like syndrome resulting from mutations of the TP63 gene, and highlights the wide phenotypic spectrum associated to TP63 mutations.
 ...
PMID:The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 1293 57

The ectodermal dysplasias represent a complex collection of congenital abnormalities of skin, hair, teeth, nail, and sweat gland development, many of which have overlapping clinical features. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and hair abnormalities, features resembling the autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63. However, direct sequencing of the p63 gene in this individual did not reveal any pathogenic sequence variants. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an autosomal recessive pattern of inheritance. Furthermore, all affected individuals lacked a history of erosive scalp dermatitis that is usually characteristic of AEC syndrome. Instead, the scalp hair was coarse and wiry. In addition, another atypical feature, hypohidrosis, was present. Collectively, the clinical features also resembled Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome and CHAND syndrome, but did not appear to fit neatly with any one particular disorder. This case highlights the difficulties in trying to classify the ectodermal dysplasia syndromes on clinical features alone.
 ...
PMID:Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. 1534 31

Increases in the number of allelic malformation syndromes have led to their classification according to their pathogenesis rather than their clinical specific phenotype. TP63 (also known as TP73L) mutations have been identified in several such syndromes characterized by autosomal dominant transmission and various combinations of ectodermal dysplasia, limb malformations and orofacial clefting. TP63 has not yet been implicated in early aging phenotype in humans, even though p63 activates a program of cellular senescence and p63-compromised mice display features of accelerated aging. We report on a family with four affected adult females presenting with Rapp-Hodgkin syndrome (RHS), an autosomal dominant clinical entity that associates anhidrotic ectodermal dysplasia with cleft lip and palate. Features between RHS and EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) have led to the recent identification of mutations in the TP63 gene, located on 3q27, in this condition. Our patients present typical clinical features of RHS, but also ophthalmic anomalies such as corneal dystrophy and premature menopause (around 30 years). The latter findings have never been reported in this condition, and could be secondary to a new TP63 deletion that has been identified in this family.
 ...
PMID:A new mutation in TP63 is associated with age-related pathology. 1760 71

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three-month-old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.
 ...
PMID:Hay-Wells syndrome in a child with mutation in the TP73L gene. 1791 Jun 75

Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. These mutations give rise to mutant p63alpha protein isoforms with dominant effects towards their wild-type counterparts. Here we report four RHS/AEC-like patients with mutations (p.Gln9fsX23, p.Gln11X, p.Gln16X), that introduce premature termination codons in the N-terminal part of the p63 protein. These mutations appear to be incompatible with the current paradigms of dominant-negative/gain-of-function outcomes for other p63 mutations. Moreover it is difficult to envisage how the remaining small N-terminal polypeptide contributes to a dominant disease mechanism. Primary keratinocytes from a patient containing the p.Gln11X mutation revealed a normal and aberrant p63-related protein that was just slightly smaller than the wild-type p63. We show that the smaller p63 protein is produced by translation re-initiation at the next downstream methionine, causing truncation of a non-canonical transactivation domain in the DeltaN-specific isoforms. Interestingly, this new DeltaDeltaNp63 isoform is also present in the wild-type keratinocytes albeit in small amounts compared with the p.Gln11X patient. These data establish that the p.Gln11X-mutation does not represent a null-allele leading to haploinsufficiency, but instead gives rise to a truncated DeltaNp63 protein with dominant effects. Given the nature of other RHS/AEC-like syndrome mutations, we conclude that these mutations affect only the DeltaNp63alpha isoform and that this disruption is fundamental to explaining the clinical characteristics of these particular ectodermal dysplasia syndromes.
 ...
PMID:A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. 1836 88


1 2 Next >>