1/10. Clinical treatment of ectodermal dysplasia: a case report.ectodermal dysplasia is both physically and emotionally devastating to patients. With proper restorative intervention, the quality of life can be improved for patients with ectodermal dysplasia. This case report outlines a method of restoring function and esthetics for a 14-year-old boy with ectodermal dysplasia. It is important that these patients be treated at an early age to aid in their social interactions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/10. Surgical treatment of aplasia cutis in the Adams-Oliver syndrome.Aplasia cutis is one of the features of the Adams-Oliver syndrome, beside limb anomalies. Aplasia cutis, congenital absence of skin, is a lesion that usually presents over the vertex of the skull. Management of aplasia cutis depends on the size of the skin defect and the child's physical condition. scalp defects larger than approximately 1 cm should be treated surgically. In patients with aplasia cutis, surgery should preferably be performed using rotation scalp flaps, and additional split skin grafts. The history of two babies with the Adams-Oliver syndrome is presented. In the Adams-Oliver syndrome, large rotation scalp flaps are not reliable due to the abnormal vascularity of the skin. skin grafting is the safest way, preventing hemorrhage and infection, in the operative treatment of aplasia cutis in these babies.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/10. Aplasia cutis congenita in two siblings.We report on two siblings with aplasia cutis congenita (ACC). This rare congenital malformation is characterized by a local defect of epidermis, dermis, and subcutaneous tissues occurring predominantly on the vertex of the scalp. Patient A (a boy) was born with a parietooccipital 4 x 4 cm scalp defect, that healed under conservative treatment with scar formation within three months. At the age of three years we started with serial excisions of the affected area. In patient B (a girl) two 1.5 x 1.5 cm midline scalp defects were noted at birth. After primary conservative treatment we performed an excision at the age of three years. Both children were born at term following normal pregnancy and delivery. Neither physical nor psychomotor retardation nor any other associated abnormality was found in these cases. Two younger brothers were born without any skin defects or other anomalies. There is no unifying theory on the pathogenesis of ACC. Traumatic, vascular, teratogenic, and genetic factors are discussed as initial steps in etiopathogenesis. In this family the occurrence of ACC in two siblings of either sex, with unaffected parents, may suggest an autosomal recessive mode of transmission. However autosomal dominant inheritance with germline mosaicism in one parent can not be excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/10. Aplasia of submandibular salivary glands associated with ectodermal dysplasia.We describe a 28-year-old white Caucasian man displaying many of the physical signs of ectodermal dysplasia (ED). An unusual finding was his presentation with xerostomia. Salivary gland imaging techniques revealed aplasia of both submandibular salivary glands and relatively small parotids. The case highlights that hypoplasia and aplasia of exocrine glands could be rare features of ED. In the management of ED, early detection of xerostomia is important to limit any potential damage to the already hypodontic dentition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/10. 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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/10. pachyonychia congenita (Jadassohn-Lewandowski syndrome: case report.We report an illustrative case of pachyonychia congenita, with a description of the presenting complaints, the associated physical findings, the rationale for surgical treatment, and the technical aspects of the surgical treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/10. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.Trichothiodystrophy, or sulfur-deficient brittle hair, is a clinical marker for a neuroectodermal symptom complex that usually features mental and physical retardation and may also include nail dystrophy, lamellar ichthyosis, ocular dysplasia, dental caries, and decreased fertility. cystine-deficient hair is common to all patients. The hairs from two new patients were studied, and the most distinctive microscopic hair findings were striking bright and dark bands seen with polarizing microscopy using crossed polarizers. To date, all hair samples showing this banding have had an abnormally low sulfur content. Two-dimensional electrophoresis on the two protein fractions of the abnormal hair confirmed that the abnormality is caused by decreased synthesis of high-sulfur matrix proteins. Disturbances of the transport or utilization of sulfur-containing amino acids in other neuroectodermal tissues may be proposed to account for the various disease features in these persons.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/10. Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the x chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked flanking markers can clarify the carrier status for many females at risk for the disorder, knowledge of the origin of the mutation in instances of possible de novo mutation is critical for accurate genetic counselling of families. Two methods have been used to confirm de novo mutation in families with EDA and to trace their origin. Direct detection of three de novo molecular deletions, one arising during oogenesis and the other two during spermatogenesis, was achieved by Southern analyses using cosmids isolated from the EDA region as probes. Seven de novo mutations arising during spermatogenesis, and two possible de novo mutations during oogenesis, were identified by an analysis of the cosegregation of the disorder with polymorphic markers closely linked to and flanking the EDA locus. The confirmation and analysis of the origin of the 10 de novo mutations greatly assisted genetic counselling in these families. The apparent 3.5:1 excess of male to female origin of mutation in families studied with unidentified types of mutation is similar to other studies of X linked disorders, and suggests that the majority of these mutations may involve single base pair substitutions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/10. Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair.Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. In these syndromes, alopecia is primarily due to abnormalities of the hair shaft associated with increased hair fragility. scalp dermatitis is yet another peculiar finding, primarily seen in the ankyloblepharon-ED-clefting (AEC) syndrome. We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. On scanning electron microscopy, irregular torsion and longitudinal grooving of the hair shaft (pili torti et canaliculi) were observed. Quantitative determinations of the elastic and viscous parameters of hair demonstrated a normal viscosity but a significantly reduced hair elasticity, indicating either an abnormal composition or a disordered arrangement of microfibrils within the apparently normal keratin matrix. In contrast to the erosive scalp dermatitis of early onset in the AEC syndrome, alopecia in this case of EEC syndrome demonstrated follicular scarring with onset during puberty. We question a possible role of the anatomical hair abnormality in the pathogenesis of chronic deep folliculitis in this and clinically related syndromes.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
10/10. Features of oligodontia in three generations.Congenitally missing teeth of three generations of a family and the spousal influence on the oligodontia of the third generation is investigated. For clarification, a review of commonly used terms is included in the paper. Although there are a number of factors affecting the failure to develop permanent tooth buds, most researchers believe that an autosomal dominant trait is responsible for the oligodontia in this family. Many syndromes are associated with oligodontia, but none seem to be prevalent in the direct descendants of the first generation. A member of the second generation married a person with Witkop's (tooth-and-nail) syndrome. Subsequently, their child exhibits the same manifestations. A feature noted in this three generation pedigree is missing permanent first molars. This is considered rare, especially when few abnormal ectodermal findings are reported. Additional findings include an increased number of missing teeth, decreased tooth size and a prominent maxillary labial frenum. The dental treatment for patients affected will likely involve a multidisciplinary approach. The treatment is particularly important since the lack of a full complement of teeth impacts the emotional and physical well-being of the individual. Children who are missing permanent teeth should be screened for other ectodermal abnormalities to rule out syndromes associated with congenitally missing teeth. Oligodontia is predicted to affect fifty percent of the fourth generation. It may vary in penetrance and expression.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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