6. Mucocutaneous Disorders COPY

Question 1

• X-linked Recessive (Males)
• Defect of skin and oral adnexal structures
  
  • No sweat
  • Dry skin
  • Sparse blond hair
  • Few teeth (peg shaped)
  • Hypoplastic Salviary Glands
    
    • Xerostomia
    • URI infections
• Depressed midface, frontal bossing, protuberabt lips

Answer 1

Ectodermal Dysplasia

Question 2

• Autosomal Dominant
• Mutation in keratin genes
• Thick keratin under nails
• Palmar and Plantar Hyperkeratosis
• Diffuse white oral lesions primarily on dorsal and lateral tongue and buccla mucosa
• Histo - Hyperparakeratosis and acanthosis with clear perinuclear spaces
• No malignant potential

Answer 2

Pachyonychia Congenita

Question 3

• Autosomal Dominant
• Mutation in Keratin Genes
• Thick white plaques throughout oral mucosa (buccal)
• Histo - Hyperparakeratosis with acanthosis with “fried egg cells” (clear keratinocytes with pink condensed cytoplasm around nucleus)

Answer 3

White Sponge Nevus

Question 4

• X-linked Recessive (Males)
• Impaired telmoerase
• Skin pigmentation and nail changes
• Pancytopenia (marrow failure) shortens lifespan to about age 30
• Widespread red and white oral lesions that transform into SCCA at early age
• Tx - Bone marrow transplant

Answer 4

Dyskeratosis Congenita

Question 5

• Autosomal Recessive
• Disorder of chromosomal repair whereby epithelium cannot repair UV damage
• Widespread skin atrophy and blotchy pigment/depigmentation
• Lip and tip of tongue cancer
• Multipl sun induced cancers by age 20; most die by age 30
• Tx - Pt must live in darkness

Answer 5

Xeroderma Pigmentosum

Question 6

• Autosomal Dominant
• Disorder of chromosomal repair - cells can’t repair damaged DNA
• Disease of RBC
  
  • Develop Aplastic anemia and Leukemia
• Widespread oral lesions that become SCCA at early age
• Microstomia
• Disorders of thumb and radius

Answer 6

Fanconi Anemia

Question 7

• Autosomal Dominant
• Defective cohesion of keratinized cells
• Multiple itchy, foul-smelling red papules all over trunk; worse in summer
• 50% with intra-oral lesions on palate, resembling Papillary Hyperplasia
• Tx - Vitamin A analogues

Answer 7

Darier Disease (Keratosis Follicularis)

Question 8

Group of 21 genetic disorders characterized by epithelial attachemnt disorders of keratin, desmosomes or collagen causing skin and mucosal bullae

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Answer 8

Epidermolysis Bullosa

Question 9

• Causes formation of bullae at points of mild trauma
• They get infected and heal with scars resulting in loss of extermities
• Mouth and esophagus scars and is susceptible to SCCA

Answer 9

Recessive Dystrophic Type

Question 10

• Affects 2% of Females > 40 years old
• Type IV cytotoxic rxn where T8+ lymphocytes attack basal cells
• Pruritic, scaly pink, violaceous or pigmented rhomboid plaques on flexor surfaces of wrists and ankles
• Criss-crossed by White Wickham Striae
• Frequently infected by Candida

Answer 10

Lichen Planus

Question 11

Classic Wickman striae across buccal mucosa bilaterally - asymptomatic

Answer 11

Reticular LP

Question 12

• White striae on a background of red, peeling atrophic mucosa
• Typical on gingiva as a desquamative gingivitis

Answer 12

Atrophic LP

Question 13

Peeling, well demarcated serpiginous (scaring) lesions

Answer 13

Erosive LP

Question 14

• Flat, white patches with fissures
• Mostly seen on dorsal tongue

Answer 14

Plaquelike LP

Question 15

Differential Diagnosis of Oral Lichen Planus (6)

Answer 15

1. Dysplasia and SCC
2. Benign Mucous Membrain Pemphigoid
3. Lupus Erythematosus
4. Graft vs. Host Ds
5. Candidiasis
6. Systemic and Local Hypersensitivity Rxns

Question 16

• Men
• Acute Type IV cyctotoxic hypersensitivity wherby T8+ lymphocytes attack epithelium
• Etiology - Triggered by:
  
  • Herpes outbreak
  • Mycoplasma (URI)
  • Medications (antibiotics)
• Causes a variety of skin lesions
  
  • Target lesions, Palmar and plantar lesions, Rash
• Stevens-Johnson Sx
  
  • ​oral, eye, genital
• Lyell’s Syndrome (Toxic Epidermal Necrolysis)
  
  • ​Most serious form
  • Causes entire skin to slough
  • Drug rxn
  • frequently fatal

Answer 16

Erythema Multiforme

Question 17

• Delicate blisters that quickley rupture
• Histo
  
  • SUPRAbasilar clefting of epithelium
  • Loss of keratinocytes causing acantholysis
• Type II Rxn IgG or IgM forms against intercellular cement and deposits around desmosomes causing cellbridges to fall apart
• Biopsy is Diagnostic
• Immunofluorescence - IgG forming a net surrounding each cell

Answer 17

Pemphigus Vulgaris

Question 18

• Autoimmune ds of all mucosa
• Immunoglobulins made against BM
• Causes SUBbasilar separation resulting in tense bulla and sloughing erosions
• Immunofluoresence - Linear band of IgG and C3 along BM zone

Answer 18

Benign Mucous Membrane Pemphigoid (BMMP)

Question 19

• Autoimmune Ds of Type III Hypersensitivity
• Women mostly
• Most typical skin lesion is the butterfly rash induced by sun exposre
• Oral Manifestations are Lichenoid, affects palate, vermillion, buccal mucosa
• Immunofluoresence - granular bands of immunoglobulins or C3 at bm (lupus band test)

Answer 19

Lupus Erythematosus

Question 20

• Autoimmune Ds in which there is a deposition of collagen throughout the body
• Adult women
• Clinical
  
  • Mask like face
  • Sclerodactyly
  • Raynaud Phenomenon
• Oral
  
  • Microstomia
  • Gingival recssion
  • Widening of PDL around all teeth
  • Resoprtion of posterior ramus, coronoid, and condyle

Answer 20

Scleroderma

Question 21

In Graft vs Host Ds, the graft T cells react against …

Answer 21

host HLA antigens