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PubMed1990

Rapp-Hodgkin ectodermal dysplasia.

Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies, cleft lip or palate, poor dentition, poor hair growth, dystrophic nails, and hypohidrosis, and hypospadias in boys. Since the original report in 1968, fewer than 20 other patients have been described. We report a new sporadic case, a 12-year-old boy who had erythrodermia and scaling skin at birth, and later developed most of the symptoms and findings previously described.

Child↗
PubMed1983

[Leukonychia totalis and ectodermal dysplasia. Report of 2 cases].

The authors describe two brothers showing leukonychia totalis in association with deafness, hyperkeratosis palmaris and plantaris, scalp modifications and dental lesions. The onychopathia began during early childhood and was also present in four other members of the same family. All nails of both hands and feet were affected and appeared white, dull and with inconspicuous lunulae. The hair was rough, dark, bristly, looking like steel wire. In particular, the changes of the hair shaft were studied under scanning electron microscope. Hair dysplasia, accompanied by structural changes such as complete and incomplete twistings, longitudinal grooves and modified imbrication, was found. After briefly reviewing the literature on the subject, the authors point out the suggestive hypothesis that all these manifestations might possibly we ascribed to a single genetic defect, in spite of their different clinical features in the various patients.

Adolescent↗
PubMedDate not supplied

[Physical exercise and increase in arterial pressure and temperature in a female heterozygote for anhidrotic ectodermal dysplasia].

A 51-year-old woman suffered from an increase in body temperature from 37 degrees to 38.4 degrees C after physical exercise. She did not sweat. The patient also had labile hypertension with maximum values reaching 210/130 mmHg. Tests were carried out to explore the possibility of a link between the increase in body temperature and her hypertension. Evaluation of the patient's blood pressure and temperature changes after exercise and after environmental modification suggests a pathogenetic link between hyperthermia and hypertension.

Blood Pressure↗
PubMed1986

[A family with the EEC syndrome (ectrodactily, ectodermal dysplasia clefting syndrome): clinical variability and genetic counseling].

In a family with segregation of EEC-Syndrome we observed five children--two girls and three males--(two of them dizygotic twins) affected by very various phenotypes of the syndrome. The ocular symptomatology was represented by agenesis or stenosis of lacrimal ducts: two children were operated, the other suffered from frequent inflammations. The study of the family suggest an autosomic dominant heredity with defect of penetrance on the father.

Abnormalities, Multiple↗
PubMed1977

Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.

Five new casses of ectrodactyly are described. Two patients have the syndrome of ectrodactyly, extodermal dysplasia, and clefting (EEC). In one patient with the EEC syndrome, the disorder seems to represent a new mutation. One woman with isolated ectrodactyly has a daughter with the EEC syndrome. The variation in the clinical expression of this disorder among affected members of the same family makes it difficult to determine whether there may be several mutant alleles responsible for ectrodactyly and its related manifestations.

Abnormalities, Multiple↗
PubMed1981

An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations.

We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.

Abnormalities, Multiple↗
PubMed1982

Hidrotic ectodermal dysplasia. Report of a case with reticulated acropigmentation.

A 22-year-old black man noted punctate macular hyperpigmentation of the distal dorsal extremities around the age of 5 years. The hyperpigmentation progressed proximally and became confluent, forming a reticulated pattern. Dermatopathology revealed increased basal melanization. Keratosis palmaris et plantaris began at the age of 19 and steadily became more severe. Body and facial hair was scant, and scalp hair required cutting once every 2 years. Teeth developed normally but were carious. Fingernails were normal, but all toenails demonstrated thickening and transverse imbrications. Sperm counts were consistently below 25 million/ml; no family members were similarly affected.

Adult↗
PubMed1988

Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome.

Here we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourinary (GU) evaluation; all had abnormal findings. Seven had anomalies of the urinary tract, and 3 had genital anomalies. To our knowledge, this is the first report of GU evaluation of the majority of EEC patients from a single clinic population. Results support the suggestion that GU anomalies are a major component of the EEC syndrome. Genitourinary evaluation of all EEC patients and their first degree relatives seems indicated. The abnormal findings observed to date suggest variable expression of an autosomal dominant gene.

Abnormalities, Multiple↗
PubMed2005

Camouflaging changes in the appearance of a patient with ectodermal dysplasia.

This clinical report describes an innovative method to ease the transition of a patient from old implant-retained prostheses to enhanced prostheses that altered the vertical dimension, esthetics, smile, and overall facial appearance. This procedure was accomplished by a customized labial bow, such as the one commonly used for a removable Hawley-type retainer, adjusted to follow the contour of teeth waxed into a denture. This option was adopted because it is reversible, nondamaging to the denture teeth, yet still camouflages the appearance of the maxillary denture and changes in facial contour during the early transition stage from the old to the new prostheses.

Adult↗
PubMedDate not supplied

Ectodermal dysplasia with partial anodontia: prosthetic treatment with implant fixed prosthesis.

In cases with severe hypodontia, it is necessary to make a treatment plan in collaboration with different disciplines in dentistry, with the treatment plan formed in such a way that many possibilities for treatment could be used in the future. Partial and full dentures combine simple methods with good esthetic and functional results in the growing individual. They also afford time to assess the patient with regard to more extensive restorative treatment. Patients suffering from severe hypodontia have so far been very dependent on their remaining teeth. The case reported covers a twenty-year period of dental treatment, and shows a new possibility provided by osseointegrated implants.

Adult↗
PubMed1977

Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.

Hidrotic ectodermaldysplasia was found, to our knowledge, for the first time in a Chinese family in Malaysia, and it affected 15 members in five generations. The disease, which is transmitted as a non-sex-linked autosomal dominant trait, presumably originated from southern China. All 15 members had the typical nail, hair, and skin lesions, and we observed three different types of nail defects. Scalp alopeica was more extensive in the female members while keratoderma of the palms and soles was more notable in the male members. The nail and skin lesions also became severer with age. Except for the infectious eczematoid dermatitis present in the propositus, none had other skin or systemic disorders. All were relatively healthy and had normal life expectancies;

Adult↗
PubMed1987

Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.

A male child with tetra-amelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening towards the exterior, prominent and bulbous nose, large downturned mouth, high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation is reported. The parents were second cousins. His karyotype on cultured blood lymphocytes was normal. Since the next fetus conceived by the mother was found on prenatal ultrasonography to have no limbs, abortion was induced. The face of the abortus closely resembled that of the proband. It is postulated that this malformation syndrome was due to the homozygous state of a rare autosomal recessive mutation.

Abnormalities, Multiple↗
PubMed1983

AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.

A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal-recessive genes.

Abnormalities, Multiple↗
PubMed1996

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.

OBJECTIVES: To determine linkage in a pedigree with palmoplantar keratoderma (PPK) associated with squamous cell carcinoma of the esophagus. DESIGN: A large American pedigree was studied and the clinical phenotype was described. Linkage analysis was performed using genomic DNA from key individuals. SETTING: A community-based family study. PATIENTS: The family pedigree was expanded from a single index case. MAIN OUTCOME MEASURES: To demonstrate linkage and the relative risk of squamous cell carcinoma of the esophagus in this pedigree. RESULTS: Focal PPK was inherited as an autosomal dominant with variable expression, but signs were not limited to the palmoplantar epidermis. The generalized nature of this pattern of PPK was highlighted by the perifollicular papules and oral hyperkeratosis. Affected individuals (125 individuals) in 7 generations were identified, with 17 affected individuals having associated cancer. Seven of the 8 squamous cell carcinomas of the esophagus occurred in smokers. Other tumors were seen in nonsmokers, but these were not significantly increased. The combined male-female expected incidence of squamous cell carcinoma of the mouth and esophagus was 0.21; observed, 8 (relative risk of 38; P < .001). Linkage to the tylosis and esophageal cancer gene locus on 17q24 was demonstrated with a maximum 2-point lod score of 8.20 at zero recombination fraction for the DNA marker D17S1603. CONCLUSION: The distinctive clinical phenotype in this family suggests a new classification for PPKs, in particular a reappraisal of the phenotype as a focal PPK. A very similar phenotype is found in patients with keratin K16 gene mutations.

Chromosomes, Human, Pair 17↗
PubMed2000

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P(excess) = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbrück equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively.

Alleles↗
PubMed1988

Psychological aspects of hypohidrotic ectodermal dysplasia.

There is little information on the psychologic aspects of HED. In particular, there is insufficient evidence to support or dispute the claim that the intelligence of persons with HED is dissimilar to that of the general population. Impressions of frequent mental retardation may arise from patients suffering brain damage following high fever and from our biases against the physically unattractive. A small number of adults with HED have been reported to hold a relatively wide range of jobs, and an even smaller number have been reported with educational and occupational achievement that is predictive of bright average to superior intellectual functioning, but even less evidence is available here. Chronic illness and handicaps exert a toll on the patient and the family. There appears to be greater maladjustment among the families of chronically ill children, but this differs according to the type of illness, and we do not know how this affects the HED child and his/her family. Still, the HED family is exposed to some unique stresses: having always to take into account the ambient temperature regardless of their planned activity; responding to cruel stares and remarks when out in public; and dealing with the problem of broken, lost, or merely publicly discovered dentures. On the other hand, some children apparently benefit from having a sib with a disability. Families react in a variety of ways to a disability, and their reaction may interact with the child's temperament to affect emotional development for better or worse. However, the existence of HED does not insure either normal or inadequate emotional adjustment, and parents should be advised of this. As difficult as it may be, this may also be the time for the pediatrician to say "I don't know." Parents can be told that each child, not just those with HED, should be provided a warm and supportive environment congruent with his/her unique style, in order to facilitate emotional development. They should also be advised of the probable emotional benefits of early prosthetic care with wigs and dentures. When this is either not possible or not sufficient, professional guidance should be sought. Psychotherapy or counseling can be obtained for the child, a parent, or for the entire family. While some familiarity with HED may be helpful, it is not essential, and is far less important than finding a competent professional with whom the family is comfortable. As far as obtaining the information we need, a series of systematic investigations appears to be called for.(ABSTRACT TRUNCATED AT 400 WORDS)

Adaptation, Psychological↗