Ch 1 - Developmental Defects 2 Flashcards
_______ is a rare oral anomaly characterized by a redundant fold of tissue on the mucosal side of the lip?
double lip
What are the three features of Ascher syndrome?
- double lip 2.Blepharochalasis (recurring upper eyelid edema) 3. Nontoxic thyroid enlargment
Is double lip in Ascher syndrome congenital or aquired?
aquired
When is double lip visible? At rest or smiling? Which lip is more often affected?
smiling…upper lip
What is the ‘suggested’ inheritance pattern of Ascher syndrome? What % of Ascher patients have nontoxic thyroid enlargment?
AD…50% (then why is it part of the triad if only half the patient’s get it?)
______ are sebaceous glands that occur on the
oral mucosa. What % of the population has them?
Fordyce granules…80%, so its a variant of normal anatomy as opposed to ectopic glands
Fordyce granuals: which age group and what spurs their growth?
adults…hormonal changes in puberty
__________ presents as a diffuse, gray-white, milky, opalescent appearance of the mucosa. It occurs more commonly in Blacks ( what % range?)
Leukoedema…(70-90% of Blacks)
What can the clinician do to check if an area is leukoedema? What are two unique locations for leukoedema (besides buccal mucosa)?
evert and stretch the mucosa - the white should diminish (always stretch to r/o any underlying lesions)….Floor of mouth and palato-pharyngeal tissues
Most reported cases of microglossia are associated with one of a group of overlapping conditions known as ________
oromandibular-limb hypogenesis syndromes
oromandibular-limb hypogenesis syndromes (which have association with microglossia) have associated limb anomalies like what two entities?
1.hypodactylia (absence of digits) 2.hypomelia (hypoplasia of part or all of a limb)
Aside from oromandibular-limb hypogenesis syndromes, patients with microglossia have also been found to have what three anomalies?
- cleft palate 2. intraoral bands 3. situs inversus (major visceral organs are reversed or mirrored from their normal positions
Microglossia frequently is associated with hypoplasia of _______, and the ________ may be missing
the mandible….lower incisors
What are the two most frequent causes of macroglossia? (think general)
- vascular malformations 2. muscular hypertrophy
ARE YOU READY? How many congenital and hereditary conditions are associated with macroglossia? What are they?
11
- Vascular malformations
- Lymphangioma
- Hemangioma
- Hemihyperplasia
- Cretinism (untreated congenital hypothyroidism w/ or w/o goiter)
- Beckwith-Wiedemann syndrome (overgrowth disorder)
- Down Syndrome
- Duchenne muscular dystrophy
- Mucopolysaccharidoses
- NF1
- MEN2B
ARE YOU READY? How many aquired conditions are associated with macroglossia? What are they?
8
- Edentulous patients
- Amyloidosis
- Myxedema
- Acromegaly
- Angioedema
- Myasthenia gravis
- Amyotrophic lateral sclerosis
- Carcinoma / other tumors
What are the 13 features of Beckwith-Wiedemann syndrome?
- Omphalocele (protrusion of intestine through abdominal wall at umbilicus)
- Viceromegaly
- Gigantism
- Neonatal hypoglycemia
- Macroglossia (the entire reason this stupid card was made)
- Wilms tumors
- adrenal carcinoma
- hepatoblastoma
- rhabdomyosarcoma
- neuroblastoma
- nevus flammeus of the forehead / eye lids
- linear indentations of the ear lobes
- Maxillary hypoplasia
Most examples of Beckwith-Wiedemann syndrome are sporadic, but 10% to 15% of cases show _________ inheritance with preferential maternal transmission.
autosomal dominant
What are the 3 disorders/syndromes where macroglossia appears as diffuse, smooth, generalized enlargment?
- Hypothyroidism 2. Beckwith-Wiedmann Syndrome 3.Neuromuscular disorders
What 3 disorders/syndromes does the macroglossia present as multinodular?
1.Amyloidosis 2.NF1 3.MEN2B
Which cause of macroglossia is associated with a pebbly and multi-vesicluar surface?
lymphangiomas
Which 2 causes of macroglossia is associated with a papillary, fissured surface?
down syndrome, melkerson-rosenthal
Which 2 causes of macroglossia can yield a unilateral enlargement of the tongue?
- hemifacial hyperplasia 2. NF1
Ankyloglossia has been reported to occur in up to ___% of neonates, being more common in which gender?
10.7%..more common in boys than in girls
What age is surgery for Ankyloglossia recommended?
age 4 or 5
During the ___ to ___ week of fetal life, the thyroid
gland begins as an epithelial proliferation in the floor of the pharyngeal gut. By the ____ embryonic week, this thyroid bud normally descends into the neck to its final resting position anterior to the trachea and larynx.
3-4th….7th
90% of ectopic thyroids are found between the _______ and the _____
epiglottis and the foramen cecum (jxn of anterior 2/3 and posterior 1/3 at midline)
Lingual thyroid: gender?
4-7x more common in females
What % of lingual thyroid cases represent the patient’s only thyroid tissue? What % of these patients have hypothyroidism?
70%…33%
What % of lingual thyroids develop cancer?
1%
What is the alternate name for fissured tongue?
scrotal tongue (good luck forgetting that one)
What % range of the population has fissured tongue? Gender?
2-5% Male
What inflammatory condition has a fissured tongue been strongly associated with?
geographic tongue
Which syndrome has fissured tongue as a component?
Melkersson-Rosenthal syndrome (orofacial granulomatosis + facial paralysis + fissured tongue)
What are the 2 alternate names for hairy tongue?
- Black hairy tongue
2. Coated tongue
Hairy tongue is found in about ____% of adults, with many affected people having what habit?
Hairy tongue is found in about 0.5% of adults…smoking
Which type of papillae are elongated in hairy tongue?
filiform
Mechanism of black tongue: The bismuth in such preparations can react with trace amounts of ______ in the saliva to form _______ , which accumulates on the tongue surface
sulfur….bismuth sulfide
What is a keratoytic agent sometimes used for hairy tongue?
podophyllin
What is the primary term for a varix (or varicies)?
Varicosities
What are two factors that have been associated with sublingual varicies?
- smoking
2. cardiovascular disease
What has a thrombosed varix been clinically likened to on palpation?
a “BB” beneath the mucosal surface
What is the term for concentrically layered zones of platelets and erythrocytes? What is the term for when an old thrombus exhibits dystrophic calcifiaction?
lines of Zahn…phlebolith
Similar to oral varices, caliber-persistent arteries are seen more frequently in what age group? (avg age? gender?)
Similar to oral varices, caliber-persistent arteries are seen more frequently in older adults (avg age 58, gender ratio equal)
The caliber-persistent artery occurs almost exclusively on what oral location? What color?
the lip mucosa..normal to bluish
What is the unique clinical feature of a caliber-persistent artery on palpation?
pulsation - usually NOT possible to feel with gloved fingers
Many cases of Lateral soft palate fistulas appear to be congenital, possibly related to a defect in the development of which embryologic structure?
the second pharyngeal pouch
Lateral soft palate fistulas are more common on which tonsilar pilar?
anterior
What is a rare developmental anomaly that may result in limitation of mandibular movement? What age and gender?
coronoid hyperplasia..3-5x more common in pubescent males
What two types of tumors can cause unilateral enlargment of the coronoid process?
osetoma or osteochondroma
In unilateral coronoid hyperplasia, does the mandible deviate toward or away from the affected side?
toward
(the unaffected side opens wide/normally, the affected side is hindered thus swinging the jaw to the affected side)
What features help distinguish condyler hyperplasia from hemifacial hyperplasia?
hemifacial hyperplasia includes enlargement of the soft tissues and teeth as well
What is the gender predilection for condylar hyperplasia?
condylar: female (3:1)….remember - coronoid: male
