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

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

Sep 12, 2023 197 likes •696 views

Teeth falling off . Papillon-Lefvre 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:

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Teeth falling off ….

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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
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He can lick his nose…

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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
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What was wrong with Joseph Carey Merrick

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NF vs Proteus syndrome

  • Proteus syndrome (Elephant Man disease)
  • Clinically similar but absence of NFs
  • Vascular malformations
  • Lipomas
  • Hyperostosis
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But did Thanos have Thanos syndrome….

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

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Holes in the lips…..

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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)
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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)
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Double lip…..

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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
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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
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Down Syndrome

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

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