1/15. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
2/15. ectodermal dysplasia with hypodontia in a set of Nigerian twins--a case report.A set of Nigerian male twins with features of ectodermal dysplasia born to apparently normal parents are presented. The main findings in both children were hypodontia, abnormally shaped teeth and hypotrichosis. The general treatment modalities of the condition, especially in a tropical environment, are discussed.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
3/15. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases.patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X-linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM examination of hair demonstrated a distinctly abnormal longitudinal grooving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
4/15. Overlay removable partial dentures for a patient with ectodermal dysplasia: a clinical report.The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, hypoplastic conical teeth, underdevelopment of the alveolar ridges, frontal bossing, a depressed nasal bridge, protuberant lips, and hypotrichosis. patients with this disease often need complex prosthetic treatment. The options for a definitive treatment plan may include fixed, removable, or implant-supported prostheses, singly or in combination. However, financial constraints and other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the diagnosis and treatment of ectodermal dysplasia in an 18-year-old man. The treatment included interim removable partial dentures fabricated to establish an acceptable therapeutic occlusal vertical dimension, followed by definitive overlay removable partial dentures and composite restorations.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
5/15. Hypohydrotic ectodermal dysplasia: an unusual presentation and management in an 11-year-old Xhosa boy.ectodermal dysplasia (ED) is an inherited disorder in which two or more ectodermally derived structures fail to develop, or are abnormal in development. Hypohydrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome, is an X-linked recessive syndrome with an incidence of 1/10,000 to 1/100,000 births. Because of its X-linked inheritance pattern, it is more common in males. HED is characterised by hypohydrosis (diminished perspiration), hypotrichosis (decreased amount of hair) and microdontia (small teeth), hypodontia (lack of development of one or more teeth) or adontia (total lack of tooth development). These patients present diagnostic and treatment challenges because of variable oral manifestations. This report describes an 11-year-old Xhosa boy, who was referred to the University Dental faculty by his general medical practitioner because of hypodontia. General facial features included: frontal bossing, a depressed nasal bridge, 'butterfly' pattern of eczema over the nasal bridge to the malar process of each cheek, thinned out hair, loss of vertical dimension of face and dry skin. Intra-oral examination revealed hypodontia with peg-shaped anterior teeth and diastemas. Radiological examination revealed no developing permanent teeth or tooth buds. diagnosis was confirmed by doing a sweat gland count. Management included oral hygiene instruction, fluoride treatments, construction of a partial lower denture and counselling about his condition with particular reference to the danger of hyperthermia and control of allergies.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
6/15. Alternative rehabilitation treatment for a patient with ectodermal dysplasia.The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestations can be defects in ectodermal structures. The hypohidrotic and anihidrotic are commonly types of ectodermal dysplasia. The main characteristics are dental anomalies, hypotrichosis and hypohidrosis. The oral rehabilitation of this patients is important for better social living, self esteem and oral function. This paper had as objective to relate and discuss a case of anihidrotic ectodermal dysplasia, describing the positive influence of an alternative rehabilitation treatment.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
7/15. NEMO mutations in 2 unrelated boys with severe infections and conical teeth.X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-kappaB essential modulator (NEMO), which is essential for nuclear factor-kappaB activation. Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 unrelated boys, aged 6 and 11 years, who have novel mutations in NEMO and present conical incisors and hypodontia as their sole and long-unrecognized developmental anomaly. One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
8/15. Hypohidrotic ectodermal dysplasia (HED).Hypohidrotic ectodermal dysplasia (HED) is a hereditary congenital disorder of ectodermal origin. It is characterized by lack of sweat glands (hypohidrosis), nail dystrophy(onychodysplasia), alopecia (hypotrichosis), defective palms and soles (palmoplantar hyperkeratosis) and the oral presentations of partial absence of teeth (hypodontia) or complete absence of teeth (anodontia). Hypodontia of primary and permanent dentition is one of the most frequently occurring oral symptoms in HED patients. These features of poor aesthetic affect the social and the psychological well-being of the patient. This case report describes the prosthetic rehabilitation of a HED patient.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
9/15. association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report).The authors reported a 41-year-old female patient with EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) syndrome with hypotrichosis, teeth anomaly, split hand complex and retinal changes with prominent pigmentations located in the posterior pole of the retina. retinal degeneration had shown minimal progression during 11 years. A longer follow-up period was necessary to make a definite diagnosis of these fundus changes. This is an isolated case born from a consanguineous marriage.- - - - - - - - - - ranking = 1keywords = hypotrichosis (Clic here for more details about this article) |
10/15. Eyelid cysts, hypodontia, and hypotrichosis.We report a case of multiple ectodermal defects with the principal features of eyelid apocrine hydrocystomas , hypodontia, and hypotrichosis. To the best of our knowledge this is the second such report and presents histologic features that are unique in our experience.- - - - - - - - - - ranking = 5keywords = hypotrichosis (Clic here for more details about this article) |
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