Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. 1168 14

Incontinentia pigmenti is an uncommon, inherited disorder with predominantly ectodermal manifestations that is associated with skin (100%)), dental (90%), skeletal (40%), central nervous (40%), and ocular (35%) deformities. It is an X-linked dominant disease, usually lethal in males and occurring in female infants. The dental effects include delayed eruption, partial anodontia, microdontia, and cone or peg-shaped teeth. The dental, clinical, and radiological findings in a 16-year-old female are presented here. The patient had peg-shaped teeth and a unilateral maxillary transverse discrepancy associated with oligodontia in the maxillary and mandibular arches. Orthodontic treatment included rapid maxillary expansion and fixed orthodontic therapy for prosthetic purposes and elimination of the functional midline shift.
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PMID:Orthodontic and orthopedic treatment of a patient with incontinentia pigmenti. 1471 44