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