Teeth falling off . Papillon-Lefvre Syndrome Cathepsin C mutation - PowerPoint PPT Presentation

Teeth falling off ….

Papillon-Lefèvre Syndrome • Cathepsin C mutation which affects the immune response to infection • Hyperkeratosis of the palms and feet • Sometimes elbows and knees • Dramatic periodontitis • Floating teeth • DD: Langerhans’ cell disease

He can lick his nose…

Ehlers-Danlos syndrome • Different types; mild and severe forms • Usually mutations of collagen type I and V • AD, AR, X-linked • “Rubber” man • Hyperelasticity • Oral bleeding, periodontal disease, TMJ sublaxation • The “Gorlin” sign

What was wrong with Joseph Carey Merrick

NF vs Proteus syndrome • Proteus syndrome (Elephant Man disease) • Clinically similar but absence of NFs • Vascular malformations • Lipomas • Hyperostosis

But did Thanos have Thanos syndrome….

Cohen MM Jr. Thanos syndrome does not exist. Am J Med Genet 1999;10:101.

Holes in the lips…..

Pits (Fistulas) • Commissural lip pits • 12-20% of adults; 0.2-0.7% in children • Males > Females • Unilateral or bilateral • Accentuated with age? or not developmental? • Failure of processes to fuse • Blind fistulas; sometimes saliva • Infection can occur • Associated with hearing loss, preauricular pits, rib anomalies • Combination with paramedian (one case reported)

Pits (Fistulas) • Paramedian lip pits • Blind ends • Presence of salivary glands • van der Woude syndrome (AD) • Interferon regulatory factor 6 gene mutations (role in fusion of lip and palate); chr 1 long arm • Pits and cleft lip and/or cleft palate • Mental retardation; dental malformations (hypodontia) • Popliteal pterigium syndrome • Same gene • Popliteal webs • Cleft lip and/or cleft palate • Syngnathia (webs connecting upper & lower jaw)

Double lip…..

Double Lip • Redundant fold • Congenital (persistence of the pars glabrosa and pars villosa) and acquired (trauma, habits) • Ascher (Laffer-Ascher) syndrome • Double lip • Blepharochalasis (Fuchs 1896) • Edema of the upper eyelid; vision interference • Hyperplasia of lacrimal glands with prolapse of orbital fat • Nontoxic thyroid enlargement (50%) • DiffDx: angioedema, tumor

Macroglossia • Congenital and hereditary • Vascular malformations • Hemihyperplasia • Cretinism • Beckwith-Wiedemann syndrome • Omphalocele, visceromegaly, gigantism, hypoglycemia, Wilms tumor, adrenal or liver tumors (hepatoblastoma) • Down syndrome • NF 1 • MEN 2B

Down Syndrome • Oral manifestations • Periodontal disease • Broad dry and fissured lips • Macroglossia • Delayed eruption of teeth • Hypodontia and morphologic variations • Orthodontic anomalies

Microglossia • Oromandibular-limb hypogenesis syndromes • Hypodactyly • Hypomelia • Underdeveloped organs • Some potential etiologic factors • Lithium during pregnancy • Chorionic villi sampling procedures