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The authors describe a rare clinical case of associated acute leukemia and congenital ectodermal dysplasia inherited by the autosomal dominant type. Review a problem of disease prediction in patients suffering from such an association.
Authors present a new and complete from of EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate), analysing its' clinical, genetic and therapeutic aspects. Syndrome malformations involving mainly mesenchymal tissue and with diverse clinical expression suggest a heterogenetic heredity. Participation of environmental and unknown factors is not excluded.
Anhidrotic ectodermal dysplasia is an X-linked inherited skin disorder; only affected males exhibit the complete syndrome, whereas females may have a few mild features. The gene involved in this disease is located in the proximal area of the long arm of the X chromosome, in the q13 position. Molecular analysis is very helpful for calculating the risk of transmission in sisters with normal phenotypes and affected individuals (family 1 provides an example), but cannot solve all problems (example of family 4). The best results are obtained when there are two informative markers, each located on either side of and very close to the mutant gene. Molecular analysis can also be applied to chorionic villi sampled at the tenth week of gestation in order to achieve antenatal diagnosis in male fetuses in high risk families. Until recently, antenatal diagnosis could be performed only at the twentieth week of gestation by the demonstration of inadequate development of skin glands in skin biopsy specimens sampled under fetoscopy. Family 2 provides an example of antenatal diagnosis and highlights the risk of error that always exists in molecular analysis studies.
A typical case of X-linked anhidrotic ectodermal dysplasia (AED) aged 19 year-old-male was discussed in detail, and a diagnosis of carriers of AED with his elder sister aged 24 years just before her marriage and mother was carried out. It seemed that the presence of 6 items of manifestation were important for diagnosis of carriers of AED without any evident symptoms. These were (1) abnormal teeth, (2) dissociation of dermatoglyphics, (3) hypohidrosis, (4) anhidrotic patchy distribution, (5) the lines of Blaschko and (6) expansion of distance between sweat pores. His mother was able to be diagnosed as a carrier of AED by having all of the 6 items. It was confirmed that his sister was not a carrier of AED, since she had none of the 6 items and yet her probability of being a carrier of AED was 1.5625% due to Lyon's hypothesis.
We present a series of cases on Anhidrotic. Ectodermal Dysplasia, illness characterized by an incomplete development of the annexed skin, especially of the hair, nails, and absence of sweat, sebaceous and mucous glands, and their repercussion in the ORL sphere.
The authors present the case of a patient hospitalized with the diagnosis of "fever of undetermined origin" (FUO) in whom the physical examination and laboratory tests (including a skin biopsy) showed that the child had anhidrotic ectodermal dysplasia. We study the differential diagnosis, the clinical findings, the histopathology and genetics of this entity.
The purpose of this study was to investigate the morphological variation of teeth of the partial anadontia with anhydrotic and hypohydrotic ectodermal dysplasia. Qualitative and quantitative observations were made for the upper central incisor and upper first molar in the anadontia of 18 patients. Moreover, some phylogenetic consideration was taken on the variability of the shapes. The results were as follows. 1) The crown shapes of 28 upper permanent central incisors were classified into 5 types based on the presence and/or size of mamelons, from rudimental teeth such as the cone-shaped type to the almost normal but flat type. Also these morphological variation had a clear correlation to the number of unabsenced teeth of same side. 2) The relatively reduced mesio-distal size, which was said to be a strong trait which shows a tendency towards degeneration in human upper permanent molars, was not observed in the upper 1st permanent molar of the anadontia. 3) Of the 33 1st permanent molars, contraction of the hypocone and contraction of the metacone were independently found in 4 and 10 teeth respectively. 4) Protoconule, which are rudimental small cusps and mesial to the protocone, was observed in all 33 molars, and there was a correlation between the extent of their development and the number of remaining teeth on the same side. The relative length between the top of the paracone and protocone, also, correlated to the number of the remaining teeth of same side. 5) Morphological variations of the upper central permanent incisors and upper 1st molars of the anadontia reflected the phylogenetic process in human teeth to some extent. It seemed that the less was the number of remaining teeth of same side, the earlier phase it suggested in morphogenesis of human teeth.
HED is an X-linked recessive disease involving abnormalities of tissues of ectodermal origin due to developmental disturbances in the embryonal state. These abnormalities include 1) trichodysplasia, 2) dental defects, 3) onychodysplasia, and 4) dyshidrosis. Also common are thin, dry skin, typical facial features such as saddle-nose deformity and periorbital wrinkling/pigmentation, otolaryngologic problems, eczema, and respiratory disease. Diagnosis of HED may be suspected in a child with recurrent fever of unknown etiology, thin blond hair, and anodontia. The diagnosis can be strengthened by low or absent sweat pore counts, and confirmed by palmar skin biopsy. Management is multidisciplinary and mainly involves avoidance of hyperpyrexia in the early years. At school age and beyond, the cosmetic features become more of a concern to the patient. As adults, these patients usually lead fairly normal lives both physically and socially, and have a life expectancy similar to that of the general population.
In a male patient suffering from congenital ectodermal dysplasia with sweating only on the plantar and palmar surface, we found that the anhidrotic eccrine sweat glands became able to produce sweat after repeated local application of acetylcholine. We ultrastructurally examined the sweat glands in skin biopsies before and after acetylcholine treatment. The secretory portion of the sweat glands of the right plantar region was characterized by well-developed basal infoldings and intercellular interdigitations, and also by dilated intercellular spaces and canaliculi. In the flexor region of the right brachium (anhidrotic area), the secretory portion showed hypoplastic features, especially denoted by the presence of few locally distributed basal infoldings and intercellular canaliculi. The secretory cells seemed to be hypofunctional with the nuclei containing much heterochromatin. After treatment, in the flexor region of the left brachium and the right infraclavicular region, where sweating was induced, the secretory portion appeared to be considerably activated, though hypoplastic structures were unchanged: the secretory cell nuclei contained dispersed chromatin, the Golgi apparatus in the dark cells was well developed, and both in the clear cells and the myoepithelial cells micropinocytotic vesicle-like structures increased in number. In ductular cells, mitochondria also increased in number.
The following mitogens: concanavalin A (con A), phytohemagglutinin (PHA), hydra growth factor (HGF) as well as neurotoxic agent kainic acid, caused neural differentiation (N) effects differed in value and also in character of dependence on concentration of the agent. The lowest effective concentration of con A was 75 micrograms/ml (15% neural differentiation, treatment during 3 h), and the effect reached maximum of 50-60% at 100-200 micrograms/ml. Con A concentration 50 micrograms/ml showed no effect but after 1% rabbit gamma-globulin was added, 17% neural differentiation was detected. N-effects observed after treatment of explants with con A (200 micrograms/ml, 3h) at 2 degrees and 21 degrees were similar (58 and 42% respectively). Minimum PHA concentration used (6 micrograms/ml, 18h) led to neural differentiation in 5% of explants. N-effect of PHA increased along with the concentration of the lectin and was most pronounced at 25 micrograms/ml. However, further increase in concentration (up to 200 micrograms/ml) resulted in decrease of its N-effect to 13%. At 12 micrograms/ml PHA exerted not only neural differentiation, but also lens-inducing (32%) action on the ectoderm. N-effect of HGF (2.5, 25 and 250 micrograms/ml) was lower as compared with the maximum effects of con A and PHA (30-35%). No correlation of HGF inducing action with its concentration was observed. Kainic acid showed weak N-effect (20-30%) at 1 and 10 micrograms/ml. Higher concentration (100 micrograms/ml) had no N-effect, but in 27% of explants "free" lentoids were found. Oubain (10(-3) and 10(-4) M) and HEPES (20 mM) did not affect the differentiation of explants.
A case of Hypohidrotic Ectodermal Dysplasia is reported. Inability of sweating is associated with characteristic craniofacial anomalies, oligo-anodontia and rare, thin hair. X-linked and autosomal inheritance are both supposed.
An infrequent case of EEC syndrome (ectrodactyly, ectodermal dysplasia, harelip--cleft palate syndrome) is reported. The authors were the first to observe a generalized epileptic mechanism associated with the symptoms of the syndrome and verified also with EEG.
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
We present a very extensive family tree, who includes six generations and 17 women and 9 males affected by ectodermal Dysplasia. The clinical symptomatology is more serious in the males than in the females. In our family the syndrome manifests a segregation that suggests a semi-dominant X-linked heredity.
Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of patients suspected to have these disorders will add to our knowledge and assist in diagnosis of this heterogeneous group of genetic diseases.
It is postulated that, in the nevoid basal cell carcinoma syndrome, independent mosaic pleiotropic action of the mutant gene on morphogenesis and histogenesis produces primary malformations of midline and nonmidline structures and dysplasias more or less highly predisposed to cancer development. However, in focal dermal hypoplasia and the Bartsocas-Papas syndrome, it is highly tempting to postulate that embryonic dysplasias, ie, breakdown or necrosis of ectoderm, especially in the region of the Ekdodermring, are responsible for the production of many of the congenital anomalies seen in these patients, and that these anomalies more likely represent sequences rather than primary malformations. The sequences in the type 1 fetal epidermal dysplasias probably represent mucosal breakdown, producing various upper gut atresias and an epidermal "disease" with loss of epidermis and many severe secondary consequences. Polyhydramnios, micrognathia, "arthrogryposis," reduced fetal growth, and short umbilical cord are other consequences of fetal hypokinesia due to stiff skin in the type 2 fetal epidermal dysplasias, with severe muscle involvement in the Hutterite-Mennonite type possibly responsible for additional fetal hypokinesia. Thus it seems likely that embryonic and fetal dysplasias can now be held responsible, directly and indirectly, for a fascinating variety of human congenital anomalies.
A case of ectodermal dysplasia and aplastic anemia is presented in which a cell-mediated immunodeficiency led to a fatal Pneumocystis carinii infection. Elevated levels of IgG, IgA and IgD were present with normal specific antibody titres. A deficient cell-mediated immunity was documented by low T cell numbers, poor in vitro mitogenic responses, negative skin tests and by the histologic finding at autopsy of thymic dysplasia.
A case of a 10-year old boy with anhidrotic ectodermal dyspasia is reported. The classic triad has been established--hypodontia, hypotrichosis and anhidrosis, confirmed by biopsy. The patient's genealogy was studied, revealing inheritance by C-chromosome. The early treatment results in functional, aesthetic and psychological effect. The prostheses should periodicaly be changed so as to guarantee the proper development of the jaws.