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The prosthetic treatment made in case of ectodermal hipohidrotic dysplasia with partial anodontia is described. After ten years the case is reviewed, taking into account, principally, the esthetics parameters, function and survival of the remaining teeth. In all of them an excellent result is observed, and the improvement of the patient in the nutritional and psychical range is confirmed.
X-linked ectodermal dysplasia and immunodeficiency (XL-EDA-ID) is an X-linked recessive disease caused by a mutation in the nuclear factor-kappaB (NF-kappaB) essential modulator (NEMO). Here we report an XL-EDA-ID patient with atypical features of very few naive-phenotype T cells and defective mitogen-induced proliferation of peripheral blood mononuclear cells (PBMCs). The patient's NEMO defect was diagnosed by flow cytometric analysis of intracellular NEMO staining. Specific cell lineages (monocytes and neutrophils) expressed reduced levels of NEMO, but 2 populations of T, B, and NK cells were detected with normal and reduced expression of NEMO. Genomic analysis revealed that duplication of a 4.4-kb sequence ranging from intron 3 to exon 6 caused the reduced expression of NEMO. Polymorphism analysis showed that the patient's B- and T-cell lines with reduced and normal expression of NEMO had the same X chromosome, indicating that the somatic mosaicism was not due to fetomaternal transfusion but was most likely due to postzygotic reversion. This XLEDA-ID case adds to our understanding of NEMO biology, indicating that NEMO is critical for T-cell development and/or survival in humans as well as in mice.
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.
We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.
We report on an 11-year-old female patient with anhidrotic ectodermal dysplasia (AED) showing the following characteristics: (1) reduced number of hair follicles and incomplete formation of sweat glands; (2) disturbed hair growth with shortening of anagen and anhidrosis; (3) disturbed cytokeratin expression pattern of CK 13, 14, 19 (follicular epithelium) and of CK 18 (eccrine sweat glands); (4) reduction of cystine and increase in sulphonic cysteine acid. Thus, we demonstrated pathological differentiation on the immunomorphological and on the biochemical level, leading to disturbed keratinization that could be visualized by transmission and scanning electron microscopical studies of the hair shafts. According to these findings AED is a developmental defect that involves not only incomplete formation of hair follicles and sweat glands but also a disordered differentiation and follicular keratinization with disturbed cytokeratin pattern and pathological amino acid composition of the terminal hairs produced.
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Roentgenographic measurements and morphometric analysis were employed in the investigation of contrasting patterns of craniofacial variation between normal individuals and those affected by X-linked hypohidrotic ectodermal dysplasia (HED). The research objective was to identify and describe the facial characteristics of heterozygous gene carriers who show minor expression of the disorder. In this study of 13 HED families with 16 affected males, 12 carriers, and 12 normal individuals, affected individuals had at least 3 of the following 4 clinical signs and symptoms: a) hypodontia, b) hypohidrosis, c) hypotrichosis, and d) clinically distinct facial physiognomy. By contrast, the gene carriers manifested only one or 2 or none of the 4 clinical manifestations. In a preliminary comparison of gene carriers vs. normal individuals, we have generated 2 discriminant functions (each based on 3 facial measurements taken either from the lateral or frontal cephalograms). These 2 functions correctly diagnose 100% of the gene carriers and normal HED relatives. Facial anomalies characteristic of the gene carriers were 1) abnormally narrow and short maxillary width and palatal depth dimensions; 2) very small and retrusive malar and maxillary regions; 3) markedly reduced lower facial depth, height and width dimensions; 4) small head height, prominent forehead, and high-set orbits; 5) a generalized, symmetric reduction of the whole craniofacial complex.
A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.
Five cases from two unrelated families with a hitherto unknown combination of dyshidrotic ectodermal dysplasia with corneal vessel ingrowth, limbal hair follicles with hairs, and Bitôt-like spots in the conjunctiva are described. The corneal lesions were slowly progressive. In one pedigree, autosomal recessive inheritance is most likely, in the other there is uncertainty about the mode of inheritance. According to the criteria of Pinheiro and Freire-Maya, the mentioned cases can be classified into subgroup 1-2-4. The cases under investigation showed no palisades of Vogt like those seen in aniridia and after radiation therapy. We also found an absence of goblet cells in the affected individuals. We suggest therefore that the corneal and conjunctival anomalies are possibly caused by a stem cell disorder.
PURPOSE: To report the perioperative management of anesthesia and analgesia in a child presenting with the association of multiminicore myopathy (MMM) and anhydrotic ectodermic dysplasia (AED). CLINICAL FEATURES: An eight-year-old girl was admitted for elective orthopedic surgery of the lower limbs. AED is a congenital dermatosis characterized by the absence of sweating and subsequent problems with thermoregulation; in addition, maxillary hypoplasia and abnormal teeth can render intubation difficult. MMM is a rare congenital myopathy characterized by proximal muscle weakness, stable in time or with a slow and progressive evolution. It can involve respiratory muscles and be associated with severe cardiomyopathy. Moreover, MMM shares some characteristics with Central Core Disease which is known to be associated with malignant hyperthermia. Since depolarizing muscle relaxants and halogenated agents could not be used, a combined propofol-based intravenous anesthesia with lumbar epidural analgesia was chosen. This combination provided stable anesthesia, smooth recovery and excellent analgesia during and after the operation, without complications. Temperature was monitored closely during surgery and in the postoperative period. CONCLUSIONS: The association of MMM and AED requires rapid distinction between hyperthermia secondary to anhydrosis and malignant hyperthermia. The management should provide a "trigger-free" anesthetic and optimal postoperative analgesia without sedation. If appropriate for the surgical procedure, a combination of general with regional anesthesia is particularly attractive in achieving these objectives.
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.
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A 26-year-old female is described with multiple facial syringomas, neonatal teeth and oligodontia. Her father has similar dental findings but no reliable evidence of syringomas. This combination of findings probably represents a new autosomal dominant ectodermal dysplasia with variable expression between the sexes.
We report on a case of " uncombable hair syndrome" combined with additional hair changes ( peripilar casts), periodic shedding of nails, abnormality of teeth, dysplasia of the nipples , Morbus Scheuermann, and atopic disorders with specific IgE sensibilisation . Pili trianguli et canaliculi as well as peripilar casts were electron-microscopically examined. The presented case might be interpreted as a special tricho-odonto- onychial subtype of ectodermal dysplasia.
We report a 2-year-old boy with an unusual autosomal recessively inherited skin disease comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails and sweat glands. Skin biopsy showed widening of intercellular spaces between keratinocytes and ultrastructural findings of small, poorly formed desmosomes with reduced connections to the keratin filament cytoskeleton. Immunohistochemical analysis revealed a complete absence of staining for the accessory desmosomal plaque protein plakophilin 1 (PKP1; band 6 protein). The affected individual was a compound heterozygote for null mutations on both alleles of the PKP1 gene. Both mutations occurred within the amino terminus of PKP1, the domain which normally binds the cytoskeletal keratin filament network to the cell membrane. Apart from its localization within desmosomal plaques, PKP1 may also be present within the cytoplasm and nucleus and has putative roles in signal transduction and regulation of gene activity. The clinicopathological observations in this patient demonstrate the relevance of PKP1 to desmosome formation, cutaneous cell-cell adhesion and epidermal development and demonstrate the specific manifestations of human functional knockout mutations in this gene.
This paper presents a unique case of true polycystic brain in which multiple cysts of curvilinear, round, oval, or layered configuration occurred. These apparently represented extremely dilated Virchow-Robin spaces: the perivascular spaces lined by ependymal/leptomeningeal cells. Irregular retinal pigment epithelium was also evident. In addition, the patient showed ectodermal dysplasia manifesting as thin hair, dystrophic nails, and dental abnormalities. A common ectodermal origin for the brain cysts and the ectodermal changes is proposed, as it is known that the central nervous system (including the ependymal/leptomeningeal cells and the retinal cells), the epidermis (including hair and nails), and the enamel of the teeth have the same origin-the embryonic ectoderm. This association appears to be a new, distinct neurocutaneous syndrome.
The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.
Two siblings are reported with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, generalized hypotonia, absent reflexes, and progressive neurologic deterioration. Although this disorder shares clinical features with an ectodermal dysplasia syndrome with neurodegenerative changes, no specific neuropathologic findings were present. Instead, trichorrhexis invaginata was found in some hair shafts. Hair analysis may be helpful in classifying clinically confusing neurologic conditions.