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PubMed1978

[The EEC-syndrome. Case report and some suggestions about its pathogenesis (author's transl)].

The clinical data of a boy with ectrodactyly, ectodermal dysplasia, and cleft lip and palate (EEC-syndrome) are presented. Until now about 80 case histories with this syndrome have been published, 30 of them having all 3 symptoms. The combination of defects in rather different organs of ectodermal as well as mesodermal origin is difficult to understand. Changes in ectodermal tissues may well be the key factor in explaining the pathogenesis of this syndrome. This is supported by evidence gained by ontogenetical research with animals.

Child, Preschool↗
PubMedDate not supplied

Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.

Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.

Bowen's Disease↗
PubMed1975

Gene-environment interactions during tooth development.

The nature of the interaction between the environment and the genetic information of the organism has been examined vis-a-vis the local tissue environments in which the teeth are initiated. The directive role of the dental connective tissue, the papilla, and sac in initiating the tooth bud, controlling its shape, and maintaining its differentiation emphasize the importance of the mesenchymal connective tissue elements of tooth buds. The molecular character of this tissue interaction was described and the role of collagen as a mediator of developmental information was stressed. Finally these data from experimental studies suggest that the etiology of ectodermal dysplasia and inherited diseases involving the dentition may involve the function of the connective tissue of the dintition.

Animals↗
PubMed1997

Hypoplastic thymus and T-cell reduction in EECUT syndrome.

We report on a patient with EEC/EECUT syndrome and concomitant hypoplasia of the thymus and reduction of T cells in secondary lymphatic organs. The patient was born prematurely at 35 weeks of gestational age and exhibited ectodermal dysplasia, ectrodactyly, cleft palate and urinary tract abnormalities. On the left side, a large ureterocele was present. On the right side, an atretic ureter was found. Both conditions had led to intrauterine hydronephrosis, renal dysplasia, oligohydramnios, pulmonary hypoplasia, and death of the child. Ureteral malformations are thought to be of epithelial origin. Autopsy showed only small rudiments of thymic tissue containing single epithelial cells, but were completely devoid of Hassall corpuscules. Again, this clearly points to an ectodermal defect. Although there was severe reduction of T cells in secondary lymphatic organs, the thymic defect would not have necessarily led to immunological deficiency; perhaps this is the reason that an epithelial defect in the thymus of patients with EEC syndrome has not yet been reported. With regard to an updating of the diagnosis of the EEC/EECUT syndrome, an "EEC/EECUT plus" syndrome is suggested.

Abnormalities, Multiple↗
PubMed2006

Hay-Wells syndrome (AEC): a case report.

We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study design. The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme, low positioning of the auricles and faulty development of the left auricle, scaly exanthema with eritrodermatitis and hyperkeratosis, good lung ventilation, normal heart rhythm and normal neurological examination. Although only a few cases published are available, clinical variability is one of the hallmarks of AEC syndrome. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported.

Abnormalities, Multiple↗
PubMed1988

Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.

Adolescent↗
PubMed2005

Heritable defects of the human TLR signalling pathways.

Recently, three human primary immunodeficiencies associated with impaired TLR signalling were described. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), either X-linked recessive or autosomal dominant, is caused by hypomorphic mutations in NEMO or hypermorphic mutation in IKBA, respectively, both involved in nuclear factor-kappaB (NF-kappaB) activation. These patients present with abnormal development of ectoderm-derived structures and suffer from a broad spectrum of infectious diseases. In vitro studies of the patients' cells showed an impaired, but not abolished, NF-kappaB activation in response to a large set of stimuli, including TLR agonists. More recently, patients with autosomal recessive amorphic mutations in IRAK4 have been reported, presenting no developmental defect and a more restricted spectrum of infectious diseases, mostly caused by pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. In vitro studies carried out with these patients' cells showed a specific impairment of the Toll-interleukin-1 receptor (TIR)-interleukin-1 receptor associated kinase (IRAK) signalling pathway. NF-kappaB- and mitogen activated protein kinase (MAPK) pathways are impaired in response to all TIR agonists tested. These data, therefore, suggest that TLRs play a critical role in host defence against pyogenic bacteria, but may be dispensable or redundant for immunity to most other infectious agents in humans.

Ectodermal Dysplasia↗
PubMed1989

A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.

We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.

Abnormalities, Multiple↗
PubMed1990

New cases of dermoodontodysplasia?

We report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.

Abnormalities, Multiple↗
PubMedDate not supplied

Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.

The so-called KID (keratitis, ichthyosis, deafness) syndrome is a congenital disorder of ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium and the inner ear. Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. All had cutaneous and auditory abnormalities, and 95% also had ophthalmologic defects. The most frequent clinical features were neurosensory deafness 90%, erythrokeratoderma 89%, vascularizing keratitis 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%. All of these findings constitute the major criteria for the diagnosis. The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous feature and not all patients have keratitis early in the course. We suggest that this syndrome should be included under the general heading of congenital ectodermal defects as a keratodermatous ectodermal dysplasia (KED).

Adult↗
PubMed2003

[Cases analysis and clinical classification of oligodontia].

OBJECTIVE: To classify the clinical symptoms of oligodontia and summarize the characteristics of the diseases. METHODS: 33 patients with congenitally permanent teeth missing (6 or more than 6) were taken clinical examination, diagnosis, prosthetic treatment and made records of the status of tooth agenesis, systemic symptoms, and family history. RESULTS: The symptoms of oligodontia were clinically classified into two groups: oligodontia with or without systemic syndromes. And the former has two typical kinds of diseases: anhidrotic/hypohidrotic ectodermal dysplasia (EDA) and Rieger syndrome. CONCLUSIONS: Correct diagnosis and early treatment for these patients are of very importance.

Adolescent↗
PubMed1994

Trichorhinophalangeal syndrome, type I.

We describe a patient with trichorhinophalangeal syndrome type I (TRPS-I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip, and a horizontal groove on the chin. There may be clinobrachydactyly with ulnar deviation and dystrophic nails. The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12. Patients with all variants of TRPS need prompt and accurate assessment because musculoskeletal dysplasia is a universal feature in this syndrome. We review TRPS and similar syndromes to assist the accurate diagnosis of these lifelong maladies.

Child↗
PubMed2004

Fishing for new genes in skin biology: impact of cytogenetics on gene discovery.

Research into the field of skin biology has grown exponentially over the past two decades. Even though the fundamental molecular pathways are still not fully understood, there have been significant advances in our understanding of the underlying mechanisms involved in the pathogenesis of genodermatosis. The cloning of many candidate genes involved in the etiology of skin diseases has been facilitated by initial cytogenetic evidence. This review will synthesize recent findings that led to the discovery of candidate genes for anhidrotic ectodermal dysplasia, Williams-Beuren syndrome, neurofibromatosis-I and tricho-rhino-phalangeal syndrome.

Cytogenetics↗
PubMed1985

Urinary tract involvement in EEC syndrome.

A patient with fully expressed, sporadic ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate (EEC) syndrome with renal involvement is presented; descriptions of four similar patients were found in the literature. Based on these patients, we suggest that the renal involvement is a form of dysplasia secondary to fetal urinary tract obstruction. We emphasize the importance of searching for a urinary tract anomaly in patients with this uncommon syndrome.

Abnormalities, Multiple↗
PubMed1991

The Rapp-Hodgkin syndrome.

We report on a family with the Rapp-Hodgkin ectodermal dysplasia syndrome. Four affected family members are described and a review of the literature is given.

Adult↗
PubMed1990

Rapp-Hodgkin syndrome: report of a Brazilian family.

We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.

Abnormalities, Multiple↗
PubMed1986

[Nevus on nevus. Apropos of 7 case reports, 3 of them associated with other dysplasias, and 1 with an invasive malignant melanoma].

There is some doubt as to whether naevus pilus is identical with naevus-on-naevus or lentiginous naevus en mottes. The former could be classified together with Becker's naevus among the clinically progressive types of epidermal naevi, whereas the latter could be a truly melanocytic naevus of special expression which, for some authors, might become malignant. Seven cases of naevus-on-naevus with different sizes and locations are reported. In 3 cases the naevus was associated with other pathologies: pigmented sclerotic and kyphoscoliosis, verrucoid epidermal naevus, tuberous angioma and underlying muscular hypertrophy. In every case the diagnosis was confirmed by histological examination. An invasive malignant melanoma on superficial extensive melanoma coexisted with a retiform intradermal naevus pilosus. The hypothesis of complex neuro-ectodermic dysplasia and the histogenesis of malignant melanoma developed upon a naevus-on-naevus are discussed.

Adult↗