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PubMed2006

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated ADULT syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the ADULT syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.

Abnormalities, Multiple↗
PubMed1981

Marshall syndrome: a condition resembling congenital syphilis.

Marshall syndrome (ectodermal dysplasia) was diagnosed in a 14-year-old boy and is thought to be the first case reported from West Africa. Because of the saddle-nose deformity and bilateral cataracts all patients suspected of having congenital syphilis should be investigated for ocular or auditory defects, which would confirm the diagnosis of ectodermal dysplasia.

Adolescent↗
PubMed1991

Histological studies on eyelid opening in normal male mice and hemizygotes for the mutant gene Tabby (Ta) with and without epidermal growth factor treatment.

Previous work has shown that mice hemizygous or homozygous for the mutant gene Tabby have delayed eyelid opening, as compared to unaffected, wildtype littermate controls; exogenous treatment with epidermal growth factor reverses this delay. We performed histological studies to explore the mechanisms of action of the Tabby gene and of epidermal growth factor in these processes. These show that eyelid opening is associated with keratinization of the fusion junction and conjunctival sac formation. Both these processes occur earlier in normal male mice (days 4 and 7 respectively) than in Tabby hemizygotes (days 7 and 10, respectively). After epidermal growth factor injection, keratinization and conjunctival sac formation are both observed on postnatal day 1 in all control and mutant pups. Thus epidermal growth factor appears to accelerate eyelid opening by stimulating these morphological processes and the Tabby gene appears to delay eyelid opening by impairing them. It is possible that deficiency of epidermal growth factor at the tissue level may be involved in the development of some of the traits seen in Tabby mutants. In addition to analysing the effects of the Tabby gene and of epidermal growth factor on eyelid opening in the mouse, this study appears to be the first detailed histological description of normal eyelid opening. The findings have potential clinical significance; firstly, because the Tabby gene shows genetic homology to the human gene for hypohidrotic ectodermal dysplasia, and disturbed eyelid opening is a trait of some forms of human ectodermal dysplasia, and secondly, because the gene for epidermal growth factor receptor is an oncogene.

Animals↗
PubMed1993

Rapp-Hodgkin syndrome with pili canaliculi.

A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdevelopment of intellectual capacity. The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron microscopy had a quadrangular aspect. This is the seventh family reported with Rapp-Hodgkin ectodermal dysplasia.

Adult↗
PubMed1998

[Christ-Siemens-Touraine syndrome].

The Christ-Siemens-Touraine syndrome (CST syndrome) is the rare an- or hypohidrotic form of the ectodermal dysplasia. During embryonic development, the formation and maturation of the central nervous system and the epithelia of the sense organs, skin, teeth, hair (and less frequently the nails) are disturbed. In addition to the cosmetic impairment, insufficient or absent secretion of sweat and sebum is particularly discomforting as it leads to extreme heat intolerance. The decreased number of apocrine sweat glands and mucous glands in the upper nasopharynx results in diminished resistance to respiratory infections. We describe typical features of the disease in a 60 year old female patient, distinguishing this disease from other forms of ectodermal dysplasia. Diagnostic criteria as well as therapeutic options are discussed.

Diagnosis, Differential↗
PubMed1987

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and/or ankyloblepharon.

Child↗
PubMed2004

The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

Both innate and adaptive immune responses are dependent on activation of nuclear factor kappaB (NF-kappaB), induced upon binding of pathogen-associated molecular patterns to Toll-like receptors (TLRs). In murine models, defects in NF-kappaB pathway are often lethal and viable knockout mice have severe immune defects. Similarly, defects in the human NF-kappaB pathway described to date lead to severe clinical disease. Here, we describe a patient with a hyper immunoglobulin M-like immunodeficiency syndrome and ectodermal dysplasia. Monocytes did not produce interleukin 12p40 upon stimulation with various TLR stimuli and nuclear translocation of NF-kappaB was impaired. T cell receptor-mediated proliferation was also impaired. A heterozygous mutation was found at serine 32 in IkappaBalpha. Interestingly, his father has the same mutation but displays complex mosaicism. He does not display features of ectodermal dysplasia and did not suffer from serious infections with the exception of a relapsing Salmonella typhimurium infection. His monocyte function was impaired, whereas T cell function was relatively normal. Consistent with this, his T cells almost exclusively displayed the wild-type allele, whereas both alleles were present in his monocytes. We propose that the T and B cell compartment of the mosaic father arose as a result of selection of wild-type cells and that this underlies the widely different clinical phenotype.

Active Transport, Cell Nucleus↗
PubMed2005

Preimplantation genetics: Improving access to stem cell therapy.

There has been progress in the application of stem cell transplantation for treatment of an increasing number of severe congenital and acquired bone marrow disorders, currently restricted by the availability of human leukocyte antigen (HLA)-matched related donors. Preimplantation HLA typing has recently been introduced to improve the access to stem cell therapy for inherited bone marrow failures. Preimplantation genetic diagnosis (PGD) provides an option not only for avoiding an affected pregnancy with thalassemia and other inherited disorders but also for preselection of the HLA-compatible donors for affected siblings. Multiple short tandem repeat markers throughout the HLA region are applied for this purpose, allowing 100% accuracy of HLA typing, through picking up possible recombination in the HLA region, as well as the copy number of chromosome 6, which affect accuracy of preimplantation HLA typing. Present experience of preimplantation HLA typing includes preimplantation HLA typing in 180 cycles, 122 of which were done as part of PGD for Fanconi anemia, thalassemia, Wiscott-Aldrich syndrome, hyper-immunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 58 for the sole purpose of HLA typing for leukemias and for aplastic and Diamond-Blackfan anemia. The applied method resulted in the accurate preselection and transfer of 100% HLA-matched embryos, yielding already three dozen clinical pregnancies and the birth of two dozen HLA-matched children to the siblings requiring stem cell transplantation. Successful therapy with HLA-matched stem cells, obtained from these PGD children, has been achieved already for Diamond-Blackfan anemia hypohidrotic ectodermal dysplasia with immune deficiency and thalassemia.

Anemia, Diamond-Blackfan↗
PubMed1999

A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.

Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.

Abnormalities, Multiple↗
PubMed2006

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.

BACKGROUND: Over the last 25 years there have been major advances in methods for prenatal testing of inherited skin disorders. Since 1979, our group at the St John's Institute of Dermatology has performed 269 prenatal diagnoses, using a variety of approaches, including fetal skin biopsy (FSB), chorionic villus sampling (CVS) and preimplantation genetic diagnosis (PGD). OBJECTIVES: This study was designed to review the clinical indications, testing procedures and laboratory analyses for all prenatal tests conducted at St John's over this period. METHODS: FSBs were examined for morphological and, when relevant or feasible, immunohistochemical abnormalities. The DNA-based tests involved screening by nucleotide sequencing, restriction enzyme digests or, in a few cases, by linkage analysis. Results Of the 269 tests, 191 were FSB, 76 were CVS and two were PGD. The major indications for FSB were epidermolysis bullosa (EB) (138 cases, including 88 junctional and 48 dystrophic), ichthyoses (37 cases, including 22 tests for harlequin ichthyosis) and oculocutaneous albinism (12 cases). Of the CVS procedures, 75 were for EB (40 junctional, 35 dystrophic) and one was for the EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome. Both of the PGD procedures were for the skin fragility-ectodermal dysplasia syndrome. All tests provided accurate diagnoses and the fetal loss rate was approximately 1% for both FSB and CVS. CONCLUSIONS: The development of prenatal testing has proved to be of great benefit for individuals or couples at risk of having children with severe inherited skin disorders and, in the absence of a cure, prenatal testing along with appropriate counselling has become an important translational benefit of basic research and an integral part of clinical management.

Biopsy↗
PubMed1993

Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.

BACKGROUND: The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare; only three families have been reported. OBJECTIVE: Our purpose was to determine the natural history of this ectodermal dysplasia and to delineate further its clinical manifestations. METHODS: We reexamined the original family with the NFJ syndrome 65 years after the first description. RESULTS: The pedigree includes 62 members with 14 affected patients. We examined the 10 living patients. Longitudinal analysis of the pedigree revealed that the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, leading to early total loss. All patients lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Four patients had congenital malalignment of the great toenails, not described previously in association with the NFJ syndrome. CONCLUSION: The NFJ syndrome is an ectodermal dysplasia with numerous specific abnormalities.

Adult↗
PubMed2006

Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation.

Mutations in the EDA gene cause anhidrotic/hypohidrotic ectodermal dysplasia, a disorder characterized by defective formation of hair, sweat glands, and teeth in humans and in a mouse model, "Tabby" (Ta). The gene encodes ectodysplasin, a TNF ligand family member that activates the NF-kappaB-signaling pathway, but downstream targets and the mechanism of skin appendage formation have been only partially analyzed. Comparative transcription profiling of embryonic skin during hair follicle development in WT and Ta mice identified critical anhidrotic/hypohidrotic ectodermal dysplasia (EDA) effectors in four pathways, three already implicated in follicle formation. They included Shh and its effectors, as well as antagonists for the Wnt (Dkk4) and BMP (Sostdc1) pathways. The fourth pathway was unexpected, a variant NF-kappaB-signaling cascade based on lymphotoxin-beta (LTbeta)/RelB. Previously known to participate only in lymphoid organogenesis, LTbeta was enriched in developing hair follicles of WT but not in Ta mice. Furthermore, in mice lacking LTbeta, all three types of mouse hair were still formed, but all were structurally abnormal. Guard hairs became wavy and irregular, zigzag/auchen hairs lost their kinks, and in a phenocopy of features of Ta animals, the awl hairs doubled in number and were characteristically distorted and pinched. LTbeta-null mice that received WT bone marrow transplants maintained mutant hair phenotypes, consistent with autonomous LTbeta action in skin independent of its expression in lymphoid cells. Thus, as an EDA target, LTbeta regulates the form of hair in developing hair follicles; and when EDA is defective, failure of LTbeta activation can account for part of the Ta phenotype.

Animals↗
PubMed2004

Genodermatoses 2003-2004.

PURPOSE OF REVIEW: Many genodermatoses have been linked in recent years to their respective genes. The underlying biology and integrative nature of these genes with other genes and organ systems is beginning to be understood. This paper reviews recent advances in neurocutaneous disorders, ectodermal dysplasias, and the phenomenon of revertant gene mosaicism. RECENT FINDINGS: In neurofibromatosis type 1, molecular assays are being developed to distinguish malignant from benign and premalignant lesions. Clinical mutation analysis for the NF1 gene has been problematic; a sensitive new assay using automated comparative sequence analysis may be helpful. Revision of clinical care guidelines is ongoing. New data for the prospective management of optic pathway gliomas is reviewed. The two genes that underlie tuberous sclerosis complex, tuberin and hamartin, lie at the center of an important signal transduction pathway with significant implications for pharmacologic treatment. Issues in genetic counseling for this highly variable disease are updated. Extensive progress has been made in understanding the basis of several forms of ectodermal dysplasia. Disorders caused by mutations in p63 and the connexin and NF-kappaB gene families will be reviewed. Finally, phenotypic in vivo amelioration of genodermatoses via revertant gene mosaicism will be discussed as a possible mechanism to be exploited in directed therapeutic approaches. SUMMARY: This paper reviews recent developments in the molecular and biologic bases of neurofibromatosis type 1, tuberous sclerosis, and ectodermal disorders related to p63 and the connexin and NF-kappaB gene families. The concept of revertant gene mosaicism is also discussed as a potential model for gene therapy.

Adolescent↗
PubMed2005

Rapp-Hodgkin syndrome and the tail of p63.

We report the clinical and molecular abnormalities in a 19-year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.

Adult↗
PubMed1991

Soluble Fc epsilon R II levels in normal children and patients with immunodeficiency diseases.

CD23 is expressed on mature B cells and is identical to a low-affinity IgE Fc epsilon receptor type II (Fc epsilon R II). The C terminal portion of CD23 is released to the serum as soluble Fc epsilon R II (sFc epsilon R II), which may be involved in regulation of IgE synthesis. We studied sFc epsilon R II levels in normal children and in patients with immunodeficiencies, including common variable immunodeficiency (CVI), partial DiGeorge syndrome, and immunodeficiency associated with ectodermal dysplasia to examine the relationship of sFc epsilon R II levels to B cell numbers and other immunoparameters. Serum Fc epsilon R II levels are higher in younger children (younger than 3 years) and decline gradually with age. In 11 patients with CVI with normal numbers of B cells (greater than 6%), sFc epsilon R II levels were comparable to that of control subjects. Five patients with CVI with deficiencies of peripheral B cells had levels of sFc epsilon R II similar to levels of control subjects. In all but one patient with partial DiGeorge syndrome, sFc epsilon R II levels were not significantly elevated, despite the presence of elevated peripheral B cell numbers. Of six patients with ectodermal dysplasia, four demonstrated increased Fc epsilon R II levels, a finding not correlated with serum IgE levels or with peripheral eosinophil or B cell numbers.

Adolescent↗
PubMed2001

Chondroectodermal dysplasia: a case report.

Chondroectodermal Dysplasia is a disease complex consisting of bilateral manual polydactyly, chondrodysplasia of long bones resulting in acromelic dwarfism, hydroitic ectodermal dysplasia affecting principally the nails, teeth and hair and congenital heart malformations. It is necessary to identify this disease at its early stage in order to render prompt treatment. The oral manifestations are characteristic for this particular disease so that a dental surgeon can identify this condition and refer the case to a cardiologist and orthopedician for corrective surgeries. In this article, a case of a 2 1/2-year old child with chondro-ectodermal dysplasia is presented along with radiographic investigations and treatment plan.

Child, Preschool↗
PubMed1987

Epidermal growth factor (EGF) affects sulphydryl and disulphide levels in cultured mouse skin: possible relationship between effects of EGF and of the tabby gene on thiols.

Studies from our laboratory have previously shown that the syndrome produced in the mouse by the X-linked gene tabby (Ta) has many features in common with human X-linked hypohidrotic ectodermal dysplasia. We have also demonstrated that tabby has abnormally elevated epidermal sulphydryl (SH): disulphide (SS) ratios, in common with an autosomal form of ectodermal dysplasia. The organs and tissues affected in many of the traits of these syndromes are targets of epidermal growth factor (EGF) and we have shown that the EGF-producing cells are deficient in tabby. In the present study we examined whether EGF affects SH and SS levels in normal mouse skin in tissue culture, and we report here that it does. EGF at a concentration of 25 ng/mL tissue culture medium lowers SH levels as compared with controls (0 ng/mL) in the epidermal layers examined (stratum malpighii of the tail and stratum malpighii and stratum corneum of flank skin). In general, other concentrations of EGF increase epidermal SH levels, although very high doses also reduce them. EGF at 25 ng/mL also lowers total SH + SS concentrations in the epidermal layers. Fetuses hemizygous for the Ta gene appear to have higher total SH + SS epidermal concentrations than their wild-type control littermates. These data, taken together with some of our previous findings, suggest the possibility that a relationship may exist between Ta, EGF, and thiol concentrations. Further study is required to elucidate this relationship.

Animals↗
PubMed1994

[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].

Oculo-dento-digital syndrome (SODD) as defined by Meyer-Schwickerath in 1957 is a rare entity (84 cases) which belongs to ectodermal dysplasias. It consists of: the characteristic features (long face, pinched nose); syndactyly; ocular, dental and bone abnormalities. This entity is usually transmitted on the autosomal dominant mode. We report two cases (a mother and daughter) with polymalformations which we classed as SODD. Furthermore, agenesis of lacrimal duct and genitourinary abnormalities were noted. The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. In SODD, fine and sparse hair is often observed (44 p. 100). Only one patient had hair shaft investigation under polarized light: pili annulati and monilethrix were described but not found in our cases. These two reports incite to the systematic hair shaft study in SODD as other ectodermal dysplasia syndromes.

Abnormalities, Multiple↗