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Neville and Damm > Ch 1 Developmental Defects 4 > Flashcards

Ch 1 Developmental Defects 4 Flashcards

1
Q

What is the alternate name for a thyroglossal duct cyst?

A

thyroglossal tract cyst

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2
Q

The caudal segment of the thyroglossal duct

often persists, forming the ________ lobe of the thyroid gland.

A

pyramidal

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3
Q

Where do a majority of thyroglossal duct cysts develop? (please give saggital and coronal locations)

A

midline and adjactent to the hyoid bone

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4
Q

When are most thyroglossal duct cysts diagnosed? Gender?

A

50% before 20 years old…no sex predilection

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5
Q

Thyroglossal duct cyst histo: 4 types of epi lining? Is thyroid tissue required?

A
  1. columnar 2.stratified squamous 3. cuboidal 4.small intestine….thyroid tissue not a consistent finding
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6
Q

What is the term for the surgical procedure to remove a thyroglossal duct cyst? What is the recurrecne rate with this procedure?

A

Sistrunk procedure (removal of cyst with midline hyoid bone and muscle tissue)…less than 10% (much higher with less aggressive removal)

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7
Q

What % of thyroglossal duct cysts have progressed to cancer? What type of cancer?

A

1-2%…papillary thyroid carcinoma (mets rare, good prog)

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8
Q

What is the alternate term for a branchial cleft cyst?

A

cervical lymphoepithelial cyst

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9
Q

A majority of branchial cleft cysts are derived from which arch? What is the %? Which other arches can cause cysts?

A

95% from the 2nd branchial arch…5% 1st, 3rd, and 4th arches

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10
Q

2 most common sites for branchial cleft cysts of the 2nd arch?

A
  1. upper lateral neck anterior

2. deep to the sternocleidomastoid muscle

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11
Q

What is the age range for patients with a branchial cleft cyst?

A

10-40 years old

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12
Q

What % of branchial cleft cyst are from the 1st arch? Where do they clinically present?

A

1%…near the parotid gland

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13
Q

Where do branchial cleft cysts from the 3rd and 4th cleft develop? (2 sites)

A
  1. lower neck

2. mediastinum

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14
Q

Branchial cleft cyst histo: 90% are which type of epithelial lining? What is the other possibility? What is often found in the cyst wall?

A

90% stratified squamous w/ or w/o keratinization….respiratory…lymphoid tissue in the cyst wall (hence cervical lymphoepithelial cyst)

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15
Q

What is the recurrence for branchial cleft cyst?

A

almost never recurs

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16
Q

Oral lymphoepithelial cyst is microscopically similar to which developmental lesion?

A

branchial cleft cyst (cervical lymphoepithelial cyst)

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17
Q

What are the three components to the Waldeyer Ring?

A
  1. palatine tonsils 2. lingual tonsils 3.pharyngeal adenoids
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18
Q

What are three locations other than the waldeyer ring for oral lymphoepithelial cysts?

A
  1. FOM
  2. Ventral tongue
  3. soft palate
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19
Q

What age group is most common for oral lymphoepithelial cysts?

A

young adults

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20
Q

What is the recurrence for oral lymphoepithelial cysts?

A

shouldn’t recur

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21
Q

What is the alternate name for hemihyperplasia?

A

Hemihypertrophy (the tissues are hyperplastic though)

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22
Q

What is is a rare developmental anomaly characterized

by asymmetric overgrowth of one or more body parts?

A

Hemihyperplasia

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23
Q

YAY! Memorize that box! What are the 12 malformation syndromes associated with hemihyperplasia?

A
  1. Beckwith-Wiedmann syndrome (macroglossia, nevus flammeus)
  2. Neurofibromatosis (NFs + cafe-au-lait coast of California)
  3. Kipple-Trenaunay-Weber syndrome (Triad: port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations)
  4. Proteus syndrome (rare condition characterized by overgrowth of the bones, skin, and other tissues.)
  5. McCune-Albright syndrome (Polyostotic FD + cafe-au-lait coast of Maine + endocrineopathies)
  6. Epidermal nevus syndrome (epidermal nevi + CNS problems)
  7. Triploid/diploid mixoploidy (truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation)
  8. Langer-Giedion syndrome (Trichorhinophalangeal syndrome (TRPS) type 2..rare gene deletion syndrome with distinct facial features and bone abnormalities)
  9. Multiple exostoses syndrome (self explanatory)
  10. Maffucci syndrome (multiple enchondromas + soft tissue hemangiomas)
  11. Ollier syndrome (multiple enchondromas only)
  12. Segmental odontomaxillary dysplasia (missing PM, Becker nevus)
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24
Q

What defines simple vs complex hemihyperplasia?

A

simple: single limb; complex: entire side of body

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25
Q

In general, what is the gender predilection for hemihyperplasia? Which side of the body is more commonly affected?

A

2:1 female…the Right side

26
Q

What % of hemihyperplasia pts are intellectually disabled?

A

20%

27
Q

What 3 types of tumors are most commonly associated with hemihyperplasia?

A
  1. Wilms tumor
  2. Adrenal cortical carcinoma
  3. Hepatoblastoma
28
Q

LOL what are the three alternate names for Progressive Hemifacial Atrophy (PHA)?

A
  1. Progressive Facial Hemiatrophy
  2. Romberg Syndrome
  3. Parry-Romberg syndrome
29
Q

Which bacteria is suspected as a cause of progressive hemifacial atrophy (PHA)?

A

Borrelia (Lyme disease)

30
Q

What other disorder does progressive hemifacial atrophy (PHA) resemble?

A

scleroderma

31
Q

What is the gender predilection for progressive hemifacial atrophy (PHA)?

A

female

32
Q

What is the term for a sharp line of demarcation, resembling a large linear scar, between normal and abnormal skin near the midline of the forehead found in progressive hemifacial atrophy (PHA)?

A

linear scleroderma (“en coup de sabre” - strike of the sword)

33
Q

What is the term for eye involvment in progressive hemifacial atrophy (PHA)?

A

enophthalmos (due to loss of periorbital fat)

34
Q

The mouth and nose in progressive hemifacial atrophy (PHA) are directed toward or away from the affected side?

A

Toward the affected side

35
Q

The atrophy in progressive hemifacial atrophy (PHA) occurs over a span of how many years before stabilizing?

A

2 to 20 years

36
Q

What is the alternate name for Segmental Odontomaxillary Dysplasia?

A

Hemimaxillofacial dysplasia

37
Q

What two conditions can Segmental Odontomaxillary Dysplasia (SOD) clinically resemble?

A

fibrous dysplasia and hemifacial hyperplasia

38
Q

Which permanent teeth are typically missing in Segmental Odontomaxillary Dysplasia (SOD)?

A

One or both of the MAXILLARY premolars

39
Q

What skin lesion was found on ONE patient with segmental odontomaxillary dysplasia (SOD)? What are the two components of this skin lesion?

A

BECKER NEVUS - Hypertrichosis and hyperpigmentation

40
Q

What is the alternate name for Crouzon syndrome?

A

Craniofacial dysostosis

41
Q

________ is one of a rare group of syndromes

characterized by craniosynostosis, or premature closing of the cranial sutures.

A

Crouzon syndrome

42
Q

What is the gene mutation associated with Crouzon syndrome?

A

FGFR2 (chrom 10q26)

43
Q

What is the inheritance pattern and prevelence of Crouzon syndrome?

A

AD…1 of 65,000 live births - significant amount of sporatic cases, usually with increased PATERNAL age

44
Q

What are the three terms for the craniofacial malformations of Crouzon syndrome?

A
  1. Brachycephaly (short head)
  2. Scaphocephaly (boat-shaped head)
  3. Trigonocephaly (triangle-shaped head)
45
Q

What is the term for the head shape in the most severely affected Crouzon disease patients?

A

“cloverleaf” skull (kleeblattschadel deformity)

46
Q

What can a skull radiograph show in Crouzon syndrome?

A

“beaten-metal” pattern (increased digital markings)

47
Q

What 3 disorders show a “beaten-metal/copper” pattern on skull radiographs?

A

1.Childhood hypophosphotasia = beaten copper 2. Crouzon syndrome = beaten metal 3. Apert syndrome same as Crouzon

48
Q

What is the alternate term for apert syndrome?

A

Acrocephalosyndactyly

49
Q

What is the gene mutation, inheritance, and prevelence of Apert syndrome? (hint: think Crouzon syndrome)

A

FGFR2 (chrom 10q26)…AD…1:65,000…increased paternal age for sporatic cases (all the same as Crouzon syn)

50
Q

What are the technical term and nickname for the clinical presentation of the skull in Apert syndrome?

A

Acrobrachycephaly … tower skull

51
Q

What is the term for the clinical skull formation in severely affected Apert syndrome patients?

A

“cloverleaf” skull (kleeblattschadel deformity) - yes, the same as Crouzon

52
Q

What is the characteristic feature of Apert syndrome that separates it from Crouzon?

A

limb defects - syndactyly of the 2nd,3rd,4th digits of the hands AND feet almost always obderved

53
Q

30% of Apert syndrome patients have clefts of what two oral locations?

A

soft palate or uvula (bifid uvula)

54
Q

What substance is assocated with the lateral hard palate swellings in Apert syndrome patients? What is the term for the clinical appearance created by these swellings?

A

GAGs - esp hyaluronic acid…a PSEUDOcleft hard palate

55
Q

35% of Apert pts are missing which teeth?

A

Maxillary lateral incisiors or mandibular second premolars

56
Q

What are the 2 alternate names for Mandibulofacial Dysostosis?

A
  1. Treacher Collins syndrome

2. Franceschetti-Zwhalen-Klein syndrome

57
Q

Mandibulofacial dysostosis (Treacher Collins) is characterized by defects of structures derived from which embryollogic structures?

A

first and second branchial arches

58
Q

Mandibulofacial dysostosis (Treacher Collins) inheritence pattern and prevelence? What % represent new mutations?

A

AD….1 in 50,000…60% new….PATERNAL age

59
Q

Mandibulofacial dysostosis (Treacher Collins) what is the gene mutation?

A

TCOF1 (aka treacle) chromo 5q32-q33.1

60
Q

Mandibulofacial dysostosis (Treacher Collins) 75% of pts have this notch that occurs on the outer portion of the lower eyelid

A

Coloboma

61
Q

Mandibulofacial dysostosis (Treacher Collins) 2 orofacial defects?

A
  1. Clefting (facial or palate)

2. Parotid gland hypoplasia/aplasia

Neville and Damm (72 decks)

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