DHED 309: Genetic Disorders (B)

Clinical features of Cyclic neutropenia

- Low PMNS every 21 days and lasts 5 days

-fever

-Malaise

-Sore throat

- cutaneous infections

Oral features of cyclic neutropenia

-Painful crater like ulcers

-lead to bone loss or tooth loss

Clinical features of papillon-Lefevre syndrome

palmar/planter hyperkeratosis that lasts a lifetime and have normal # of PMNS but body can't call them to an area

Oral features of papillon-Lefevre syndrome is

-Marked Perio destruction

-affects both dentitions

-all teeth lost by 14 years old

Gingival fibromatosis is

overgrowth of gingival tissue by genetic inheritance pattern

clinical features of gingival fibromatosis ONLY IF

associated with other syndromes

Oral features of Gingival fibromatosis

Gingival hypertrophy (firm, pale ,pink tissue)

Papillon-Lefevre syndrome

Gingival fibromatosis

Clinical features of Cleidocranial dysplasia

-Mushroom shaped head (frontanelles are open)

-Neck is long

-Clavicles are missing or hypoplastic (not developed)

Oral features of Cleidocranial dysplasia

-High palate

-delayed/failed eruption

-Many teeth

-paranasal sinuses missing

Cleidocranial dysplasia (oral photo)

Cleidocranial dysplasia (person)

Clinical features of gardner syndrome is

-Intestinal polyps

-Multiple osteomas (extra bumps on bone)

Oral features of Gardner syndrome is

-Supernumerary teeth

- Impacted teeth

-Multiple odontomas

What conditions present with supernumerary teeth

-Gardners syndrome

- Cleidocranial dysplasia

What condition is associated with cancer

-Gardners syndrome (GI)

-Nevoid basal cell carcinoma SX (Skin)

-Neurofibromatosis

-Multiple Endocrine Neoplasia IIB (MEN IIB) (thyroid cancer)

Clinical features of Nevoid basal cell carcinoma SX

-Palm and soles of the feet pits

- ribs divided into two

-Multiple Nevi (moles)

Oral features of Nevoid basal cell carcinoma SX

-Multiple odontogenic keratocytes of jaw

-Delayed jaw development

What conditions have clinical features associated with the palms/soles

-Nevoid basal cell carcinoma SX

-Papillon- Lefevre syndrome

-Peutz- Jeghers syndrome

Neurofibromatosis clinical features is

- Multiple neurofibromas (tumors that become larger)

- Cafe-au-lait pigmentation

Cafe-au-lait pigmentation

large discolored macule

Oral features of Neurofibromatosis

-Single or multiple neurofibromas

Clinical features of Peutz- Jeghers syndrome

-multiple melontic macules on skin

-Palmar/plantar melonatic macules

-Muscles fade with age

-Gastrointestinal polyps

Peutz- Jeghers syndrome

Oral manifestations of Peutz- Jeghers syndrome

-Multiple melanotic macules of the mucosa (in mouth don't fade with age)

oral features of Multiple Endocrine Neoplasia IIB (MEN IIB)

large thick lips

What is the first clinical sign of Multiple Endocrine Neoplasia IIB (MEN IIB)

Multiple mucosal neuromas (common site is lips/Tongue)

Clinical features of white sponge nevus

white patchy lesions of nasal, esophagus, vagina, rectum, mouth

Oral features of white sponge nevus

white corrugated (mostly bilateral)

Most common site for white sponge nevus

buccal mucosa

White sponge nevus