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PubMed1981

Specificity of an isolated salivary factor material to cystic fibrosis.

An oyster gill ciliostatic factor material has been isolated from the saliva of patients with cystic fibrosis (CF) by utilizing its ability to bind to alpha-amylase. It was quantitatively assayed by its ability to reversibly inhibit rabbit muscle glycogen debranching enzyme. The specificity of this CF factor material was investigated by comparing activities from the saliva of CF homozygotes (patients) varying in age, sex, and the severity of the disease; CF obligate heterozygotes (carriers); normal control subjects who had no family history of CF; non-CF asthmatic and allergic bronchitis patients; non-CF immunologically deficient patients with chronic respiratory problems; non-CF juvenile diabetic patients; non-CF pancreatic insufficiency patients; non-CF patients with obstructive liver cirrhosis; and non-CF patients with ectodermal dysplasia. The results show that the CF factor material isolated from CF saliva is specific to subjects with cystic fibrosis and is not associated with similar non-CE chronic disease states, nor is it produced as a result of an organ pathology associated with CF. There was no correlation between the amount of factor present in an individual CF homozygote sample and the severity of the disease. In the case of both the CF homozygote and heterozygote samples, there was also no correlation in either age or sex and the amount of factor present. The degree of inhibition produced by CF homozygotes compared to CF heterozygotes is characteristic of the autosomal recessive mode of inheritance of CF. This finding appears to associate the isolated CF factor material with the affected CF gene and suggests that the factor material is related in some way to the genetic lesion in CF.

Amylases↗
PubMed1984

Cytidine 5'-diphosphate reductase and thymidine kinase activities in phytohemagglutinin-stimulated lymphocytes of normal subjects of various ages and patients with immunodeficiency.

The activities of CDP reductase and thymidine kinase in 10(6) to 5 X 10(6) phytohemagglutinin (PHA)-stimulated lymphocytes isolated from 2 to 5 ml of peripheral blood of individual subjects were measured. The activities of CDP reductase (pmol/h/10(7) cells) and thymidine kinase (nmol/h/10(7) cells) were high in infants, 698 +/- 307 and 64.2 +/- 20.2, constant in subjects of 1-40 years old, 401 +/- 181 and 38.1 +/- 15.3, and low in persons of more than 80 years old, 121 +/- 113 and 22.3 +/- 17.8, respectively. The ratio of thymidine kinase to CDP reductase activity increased with age, indicating that dependency on the salvage pathway of DNA synthesis in lymphocytes increased with age. The activities of CDP reductase and thymidine kinase were reduced in patients with the hyperimmunoglobulin E syndrome, congenital cytomegalovirus infection, anhidrotic ectodermal dysplasia with hyperimmunoglobulin A, Bloom's syndrome, immunodeficiency with hyperimmunoglobulinemia, and Down's syndrome. The clinical symptoms of these diseases seem to be due to impaired DNA synthesis of PHA-stimulated lymphocytes, but the degrees of reduction of enzyme activities were generally greater than that of thymidine incorporation in these patients.

Adolescent↗
PubMed2004

The hyper IgM syndrome--an evolving story.

The hyper IgM syndromes (HIGM) are a group of primary immune deficiency disorders characterized by defective CD40 signaling by B cells affecting class switch recombination and somatic hypermutation. As a consequence, patients with HIGM have decreased concentrations of serum IgG and IgA and normal or elevated IgM, leading to increased susceptibility to infections. The most common HIGM syndrome is X-linked and due to mutations of CD40 ligand (CD40L) expressed by activated CD4(+) T lymphocytes. Four other genes, expressed by B cells, have been associated with the HIGM phenotype. Mutations of CD40, the receptor for CD40L, cause a rare autosomal form of HIGM with a clinical phenotype similar to CD40L deficiency. Mutations of Activation-Induced Cytidine Deaminase (AICDA) and Uracil (DNA) Glycosylase (UNG), both expressed by follicular B lymphocytes, lead to defective class switch recombination and somatic hypermutation. Mutations of Nuclear Factor kappa B Essential Modulator (NEMO), an X-chromosome associated gene, result in hypohidrotic ectodermal dysplasia and immune deficiency. Thus, the molecular definition of these rare primary immune deficiency disorders has shed light on the complex events leading to the production of high-affinity, antigen-specific antibodies of different isotypes.

Child↗
PubMed2003

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease. Other autoimmune conditions may be associated, such as hypothyroidism, hypogonadism, insulin-dependent diabetes mellitus, chronic active hepatitis, pernicious anemia, vitiligo, alopecia, biliary cirrhosis, and ectodermal dysplasia. APECED is caused by mutations in the autoimmune regulator gene, mapping to 21q22.3. We report on three patients whose clinical and molecular features challenge the currently used diagnostic criteria for APECED. AR presented at 15 yr of age with a history of recurrent infections and mucocutaneous candidiasis. He is now 21 yr old, and no other signs or symptoms of APECED have appeared to date. DR presented at 7 yr of age with hypocalcemia and a prolonged Q-T interval on the electrocardiogram. He also had minor facial dysmorphisms and mild mental retardation. Serum calcium levels were low, PTH levels were undetectable, and hypoparathyroidism was therefore diagnosed. All other biochemical, immunological, and endocrinological tests were normal. DR is now 8 yr old with no other signs or symptoms of APECED. ST presented at 14 yr of age for alopecia aerata and pitted nail dystrophy and goiter. Thyroid function was normal in the presence of thyroid-specific antibodies. No other signs or symptoms of APECED have appeared to date. Genetic analysis revealed a typical mutation (R257X) on a single allele in both AP and DR; in ST, heterozygosity for a novel mutation (V484M) involving one of the zinc fingers of the plant homeodomain of the protein was found. The finding of a typical APECED mutation in two patients presenting with one isolated major clinical APECED feature and of a novel mutation in a patient presenting with atypical features of APECED onset suggests that the time might have come for updating the diagnostic criteria of this syndrome.

Adolescent↗
PubMed2005

Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal.

Primary adrenal insufficiency (PAI) in the pediatric population (0-18 yr) is most commonly attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, followed by Addison's disease, with an assumed autoimmune etiology. However, molecular advances have increased the number of possible diagnoses. The objective of this study was to determine the incidence and etiologies of PAI in our pediatric population. All patients with a diagnosis of PAI followed by the Endocrinology Service at our institution between September 1981 and September 2001 were studied. One hundred three patients (48 boys) were identified, primarily by the Endocrinology Clinic case registry. CAH was the most frequent etiology (71.8%). However, non-CAH etiologies accounted for 28.2%, of which 55% were nonautoimmune in etiology. Importantly, the CAH sex ratio was 1:1, despite the absence of biochemical screening for this condition in Quebec newborns. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia (APECED) developed adrenal insufficiency 4 yr earlier than those with non-autoimmune disease. Finally, we review the rare etiologies of PAI and propose an algorithm to aid in targeted genetic testing.

Adrenal Insufficiency↗
PubMed1990

Effect of the X-linked gene Tabby (Ta) on eyelid opening and incisor eruption in neonatal mice is opposite to that of epidermal growth factor.

Studies on eyelid opening and incisor eruption in 216 neonatal Tabby (Ta)-bearing mice and wildtype controls (35 Ta/Y, 62 + /Y, 30 Ta/Ta, 57 Ta/+ and 32 +/+) showed that in animals hemizygous and homozygous for Ta, the timing of eyelid opening and incisor eruption was significantly delayed (P less than 0.05). It was also observed that once open, the eyes of mutant pups do not remain open for long but soon close again for several days before reopening. An iterative eyes open-eyes closed process seems to continue beyond puberty. Studies in 25 epidermal growth factor (EGF)-treated mutants and 23 saline-treated controls showed that neonatal EGF injections (4 micrograms g-1 body weight per day) reversed the delayed timing of eyelid opening and incisor eruption in hemizygote and homozygote Tabby mice. However, both mutant and wildtype EGF-treated mice also showed the eyes open-eyes closed cycle, whereas untreated nonmutant mice did not. Because Tabby appears to be genetically homologous to the gene for human X-linked hypohidrotic ectodermal dysplasia, these results may have potential clinical significance. The eyes open-eyes closed cycle may involve cycling levels of EGF receptor; since the gene for this receptor shows homology with an oncogene, this system may be useful in studies on genetic control of oncogene function.

Animals↗
PubMed2003

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.

Ablation of the desmosomal plaque component plakophilin 1 underlies the autosomal recessive genodermatosis, skin fragility-ectodermal dysplasia syndrome (OMIM 604536). Skin from affected patients is thickened with increased scale, and there is loss of adhesion between adjacent keratinocytes, which exhibit few small, poorly formed desmosomes. To investigate further the influence of plakophilin 1 on keratinocyte adhesion and desmosome morphology, we compared plakophilin 1-deficient keratinocytes (vector controls) with those expressing recombinant plakophilin 1 introduced by retroviral transduction. We found that plakophilin 1 increases desmosomal protein content within the cell rather than enhancing transcriptional levels of desmosomal genes. Re-expression of plakophilin 1 in null cells retards cell migration but does not alter keratinocyte cell growth. Confluent sheets of plakophilin 1-deficient keratinocytes display fewer calcium-independent desmosomes than do plakophilin 1-deficient keratinocytes expressing recombinant plakophilin 1 or keratinocytes expressing endogenous plakophilin 1. In addition electron microscopy studies show that re-expression of plakophilin 1 affects desmosome size and number. Collectively, these results demonstrate that restoration of plakophilin 1 function in our culture system influences the transition of desmosomes from a calcium-dependent to a calcium-independent state and this correlates with altered keratinocyte migration in response to wounding. Thus, plakophilin 1 has a key role in increasing desmosomal protein content, in desmosome assembly, and in regulating cell migration.

3T3 Cells↗
PubMed1999

Transcatheter embolization of arteriovenous malformations in Cowden disease.

A patient with Cowden disease and multiple arteriovenous malformations (AVMs) that resulted in high output heart failure is described. Cowden disease is a familial syndrome characterized by endodermal, mesodermal and ectodermal dysplasia causing benign and malignant tumors of the skin, breast, gastrointestinal tract, and thyroid gland. Our patient had gastrointestinal polyposis, a right renal tumor, a left lung tumor, an adenomatous goiter, and typical dermatologic findings such as facial papules, acral keratosis, gingival papillomatosis and hemangiomas. AVMs were observed in the pelvis, cervical vertebra, liver, and right supraclavicular area. Transcatheter embolization was performed 7 times for the pelvic AVMs, but the effect decreased with repetition and the patient died of heart failure 2 years after the first embolization. The serum levels of tissue plasminogen activator (t-PA), platelet-derived growth factor (PDGF), hepatocyte growth factor (HGF), vascular endothelial growth factor (VEGF), and transforming growth factor beta1 were high, suggesting that these angiogenic molecules may play a role in the pathogenesis of AVMs in Cowden disease.

Adult↗
PubMed2004

Inherited disorders of the skin in human and mouse: from development to differentiation.

The last ten years has revealed some of the key players in the development and differentiation of the hair follicle and the epidermis in general. In this review, we discuss how our current understanding of these processes has been made possible by the elucidation of the molecular basis of human inherited diseases and mouse mutants which display defects in the hair and epidermis. For examples, the study of ectodermal dysplasias and the basal cell carcinoma predisposition disease Gorlin syndrome have allowed the determination of signalling hierarchies critical in the formation of the hair follicle. Epidermolytic diseases and hyperkeratoses have focussed attention on the importance of the programs of keratin expression, while ichthyoses provide insight in the final stage of epidermal development, cornification. Finally, the increasing range of diseases and mouse models exhibiting alopecias are revealing the critical pathways in control of the hair follicle cycle.

Alopecia↗
PubMedDate not supplied

Unusual magnetic resonance imaging findings of the sellar region in subjects with hypopituitarism: report of 4 cases.

Out of 323 consecutive growth hormone deficient patients who underwent magnetic resonance imaging (MRI), we describe the clinical and neuroradiological characteristics of four patients in whom MRI revealed unusual pictures of the sellar area. They were selected as unique in their morphological picture and representative of rare conditions. At presentation all subjects had short stature, growth hormone (GH) deficiency and complex phenotypical abnormalities. Patient 1. Female affected by vaginal atresia and sinus urogenitalis, polydactyly and syndactyly with Y-shaped metacarpals. MRI at age 11.2 years revealed normal pituitary, but hypothalamic mass occupying the suprasellar and interpeduncular cistern. The diagnosis of Hall-Pallister syndrome was made. Patients 2 and 3. Two sisters with a history of epilepsy both showing mild intellectual deficiency, midface hypoplasia and ectodermal dysplasia. MRI at age 8 and 12 years respectively displayed in both cases a round hypointensity protruding from the dorsum sellae into a normal pituitary. The diagnosis was sellar spine. Patient 4. Male with a history of postnatal hypoglycemia showing microphallus and clinical features of severe hypopituitarism. Hormonal evaluation at age 8 months confirmed multiple pituitary hormone deficiencies and MRI at age 6 years showed absent anterior lobe, rudimentary stalk and posterior lobe ectopia. The diagnosis was pituitary aplasia. The patients described show that MRI in pituitary dwarfs can reveal unusual intrasellar findings and allow the correct diagnosis of rare syndromes. Our patients also demonstrate the wide variability in the association of hypopituitarism with midline congenital abnormalities and the possible combination with complex syndromes.

Abnormalities, Multiple↗
PubMed2004

Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.

OBJECTIVE: To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome. DESIGN: A family study of eight individuals with LADD syndrome. SETTING: Pediatric Clinical Research Center at Oakland Children's Hospital. PATIENTS: Eight individuals in a four-generation family. MAIN OUTCOME MEASURE: A diagnosis of LADD syndrome was determined by the presence of one or more of the characteristic lacrimal duct, auricular, dental, or digital malformations. Tear function and orofacial clefting were also considered in the final diagnosis of LADD syndrome. RESULTS: Affected family members had the characteristic features of LADD syndrome, including cup-shaped ears; lacrimal duct obstruction; and dental, forearm, and digit malformations. In addition to the cardinal features of LADD syndrome, the proband was born with cleft lip and palate. The mother and sister of the proband have hydronephrosis, a rare feature of the disorder. Family members also have features not previously described in LADD syndrome, including vesicoureteral reflux, recurrent urinary tract infections, camptodactyly, distal thumb symphalangism, and a bicornuate uterus. CONCLUSIONS: The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.

Abnormalities, Multiple↗
PubMed2002

Clinical evaluation of a patient with single maxillary central incisor.

Hypodontia in permanent dentition is the most common developmental anomaly and frequently found in the second premolar and maxillary lateral incisor In the primary dentition, however, hypodontia appears to be less frequent, with the exception of cases such as ectodermal dysplasia and cleft lip and palate. We report a child with one primary maxillary central incisor at midline. The presence of a single permanent maxillary central incisor was also confirmed by radiological examination. Other intraoral abnormalities were detected including absence of upper labial frenulum and abnormal palatal structure, but no other facial or brain anomalies. Although the condition is exceedingly rare, a thorough examination for more serious anomalies should be conducted since it is suggested to be the mildest feature of holoprosencephaly.

Cephalometry↗
PubMed2006

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.

Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid. Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes.

Acitretin↗
PubMedDate not supplied

Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case.

An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.

Abnormalities, Multiple↗
PubMed2006

[Patient with severe corneal disease in KID syndrome].

CASE REPORT: A 33-year-old woman with superficial and deep bilateral corneal vascularization and keratoconjunctivitis sicca, keratoerythema and neurosensory deafness, was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome. DISCUSSION: KID syndrome is a congenital ectodermal dysplasia characterized by the association of vascularizing keratitis, hyperkeratotic skin lesions and sensorineural hearing loss. Recently, limbal stem cell deficiency was recognized as a possible major pathogenetic factor.

Adult↗
PubMedDate not supplied

The use of colored elastomeric "O"s as a motivational instrument for patients with anodontia: report of case.

Complete and/or removable partial dentures are the most commonly selected treatment for the prosthodontic management of young patients who present with oligodontia or anodontia such as in the case of patients with ectodermal dysplasia. Bakri, Belanger and Nowak have reported on the different ways that these prostheses can be modified to ease the child's burden of growing up with missing teeth and having to wear prostheses that make them different from their peers. Some of their suggestions include the placement of diastemas, the use of artificial "baby" teeth and their subsequent replacement with permanent teeth to simulate the primary and mixed dentition stages. They have also recommended deleting primary teeth to mimic the normal exfoliation pattern. The purpose of this article is to report the attitude change and improvement in self-esteem experienced by two young girls from the simple addition of colored elastomeric molded "O"s to the orthodontic appliances placed on their prostheses.

Adaptation, Psychological↗
PubMedDate not supplied

Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case.

Incontinentia Pigmenti is an inherited disorder with predominantly ectodermal abnormalities. The dental effects, delayed eruption, hypodontia, and microdontia, are very similar to anhidrotic ectodermal dysplasia. It is important that children with incontinentia pigmenti gain access to specialist dental care including pediatric dentistry, orthodontics, prosthodontics and oral surgery.

Child, Preschool↗
PubMed1999

Alterations in the incisor development in the Tabby mouse.

The X-linked tabby (Ta) syndrome in the mouse is homologous to the hypohidrotic ectodermal dysplasia (HED) in humans. As in humans with HED, Ta mice exhibit hypohidrosis, characteristic defects of hairs and tooth abnormalities. To analyze the effects of Ta mutation on lower incisor development, histology, morphometry and computer-aided 3D reconstructions were combined. We observed that Ta mutation had major consequences for incisor development leading to abnormal tooth size and shape, change in the balance between prospective crown- and root-analog tissues and retarded cytodifferentiations. The decrease in size of Ta incisor was observed at ED13.5 and mainly involved the width of the tooth bud. At ED14.5-15.5, the incisor appeared shorter and narrower in the Ta than in the wild type (WT). Growth alterations affected the diameter to a greater extent than the length of the Ta incisor. From ED14.5, changes in the shape interfered with the medio-lateral asymmetry and alterations in the posterior growth of the cervical loop led to a loss of the labio-lingual asymmetry until ED17.0. Although the enamel organ in Ta incisors was smaller than in the WT, a larger proportion of the dental papilla was covered by preameloblasts-ameloblasts. These changes apparently resulted from reduced development of the lingual part of the enamel organ and might be correlated with a possible heterogeneity in the development of the enamel organ, as demonstrated for upper incisors. Our observations suggest independent development of the labial and lingual parts of the cervical loop. Furthermore, it appeared that the consequences of Ta mutation could not be interpreted only as a delay in tooth development.

Animals↗