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Oral Histology > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Syndrome

A

a group of symptoms which consistently occur together, or a condition characterized by a set of associate symptoms

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2
Q

Osteogenesis Imperfecta

A
  • heterogeneous group of heritable disease affecting collagen maturation
  • means weak bones, bone has thin cortex and fine trabeculation, prone to fractures, blue sclera, altered teeth, hearing loss, joint hyperextensibility
  • most common type of heritable bone disease, 1 in 8000
  • type 1 is mild and common, type 2 is severe and usually result in a stillborn
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3
Q

Mucopolysaccahrideosis

A
  • a group of metabolic disorders that are usually autosomal recessive
  • appears as degree of mental retardation, degree of macroglossia, gingival hyperplasia, and numerous impacted teeth
  • dental treatment depends on degree of mental retardation, possible seizure, degree of joint stiffening, and other medical problems
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4
Q

McCune Albright Syndrome

A
  • polyostotic fibrous dysplasia (bone replaced with fibrous tissue)
  • appears as cafe au lait spots along with multiple endocrinopathies (sexual precocity, pituitary adenoma, hyperthyroidism)
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5
Q

Beckwith Wiedmann syndrome

A
  • rare hereditary condition
  • appears as macroglossia, giantism, neonatal hypoglycemia (low blood surgar), omphalocele (part of the intestine that is through the abdominal wall at umibilicus), visceromegaly (large organs)
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6
Q

Neurofibromatosis Type 1

A
  • common form of disease in 85-97% of cases
  • multiple neurofibromas that can occur anywhere on the body but mainly occurs on skin
  • appears as cafe au lait spots, optic glioma (brain tumors), Lisch nodules (masses on surface of iris), neurofibrosarcoma (malignancy)
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7
Q

MEN syndromes

A
  • Multiple Endocrine Neoplasia
  • group of rare conditions seen has hyperplasia or tumors of the neuroendocrine tissues
  • MEN type 1 = benign tumors of pancreas islets, adrenal cortex, parathyroids, and pituitary
  • MEN type 2A (sipple syndrome) = adrenal pheochromocytomas and medullary thyroid cancer
  • MEN type 2B = type 2A + mucosal neuroma in oral mucosa
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8
Q

Ehlers Danlos Syndrome

A
  • group of inherited connective tissue disorders, production of abnormal collagen
  • appears as hypermobility of joints, elastic skin, touch tip of nose with tongue (sign of Gorlin’s)
  • could result in being easily bruised and aortic aneurysm
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9
Q

Xeroderma Pigmentosa

A
  • rare genodermatosis (inherited skin problem) with many cutaneous malignancies at an early age, due to defect in DNA repair mechanisms resulting in UV skin damage
  • appears as squamous cell carcinoma of the skin, lip and tip of tongue
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10
Q

Ectodermal Dysplasia

A
  • inherited condition where 2 or more ectodermal structures fail to develop
  • most common form is hypohidrotic ED (loss of sweat glands)
  • appears as heat intolerance (due to reduced eccrine glands), fine hair, thin eyebrows/lashes, midface hypoplasia (underdeveloped), hypoplastic salivary glands, teeth reduced in number (hypodontia) or no teeth (anodontia)
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11
Q

Amelogenesis Imperfecta

A
  • group of conditions that shows changes in teh development of the enamel in the absence of the a systemic disorder, 14 or more different hereditary subtypes
  • appears as diverse changes in the enamel structure, bad aesthetics, dentin sensitivity, and loss of vertical dimension
  • clinical implications vary according to the severity
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12
Q

Dentinogenesis Imperfecta

A
  • hereditary developmental disturbance of dentin in the absence of a systemic cause
  • radiographically “shell teeth” so they break easily
  • opalescent teeth that have a brown to blue discoloration
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13
Q

Gorlin Syndrome***

A
  • nevoid (congenital anomaly of the skin) basal cell carcinoma syndrome, autosomal dominant caused by mutation in a tumor suppressor gene, seen in 1 of 60,000
  • appears as odontogenic keratocysts (OKC, odontogenic cyst), calcified flax cerebri, palmar plantar pits, rib anomalies, mild ocular hypertelorism (eyes far apart), enlarged head circumference, epidermal cysts of the skin
  • treatment depends on tumor aggressiveness, OKCs can become infected, genetic counciling
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14
Q

Hemihyperplasia

A
  • rare developmental anomaly that represents as hyperplasia of tissues, falsely called hemihypertrophy
  • complex hemihyperplasia = affects whole side of body
  • simple hemihyperplasia = single limb affected
  • hemifacialhyperplasia = only face is affected
  • female to male ratio 2:1
  • appears as asymmetry at birth and progresses through life, all tissues involved may have increased pigmentation, hypertrichosis (excessive hair growth), telangiectasias (dilated small blood vessels), or nervus flammeus, unilateral macroglossia and affected side has larger k9, PM and M1, 20% are mentally retarded
  • should rule out Beckwith-Weidemann syndrome or neurofibromatosis
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15
Q

Progressive Hemifacial Atrophy (Parry-Romberg Syndrome)

A
  • uncommon degenerative condition that shows atrophic changes affecting one side of the face, said to show a localized form of scleroderma (lack of tissue)
  • females are affected more than males, usually occurs in first 2 decades of life
  • appears as atrophy of skin and subcutaneous structures affecting 1 or 2 dermatomes of the trigeminal nerve branches, hypoplasia of underlying bone, sometimes occurs on the whole face or whole side of the body
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16
Q

Segmantal Odontomaxillary Dysplasia

A
  • fibrous hyperplasia of the overlying gingiva
  • appears as enlargement of the maxillary bone, 1 or both maxillary PM are missing and primary teeth maybe hypoplastic, radiographs show thickened trabeculae in vertical orientation, maxillary sinus may be smaller on the affect side
17
Q

Crouzon Syndrome (Craniofacial Dysostosis)

A
  • rare, premature closign of the cranial sutures (craniosynostosis)
  • appears as branchycephaly (short head), scaphocephaly (boat-shaped head), or trigonocephaly (triangle-shaped head), shallow orbits causing ocular proptosis (big eyes), visual and hearing defects, mid-face hypoplasia due to underdeveloped maxilla
18
Q

Apert Syndrome (Acrocephalosyndactyly)

A
  • craniosynostosis causes acrobrachycephaly (tower skull, big forehead)
  • ocular protosis, hypertelorism, downward slanting of the palpebral fissures, visual losses
  • middle third of the face is retruded resulting in relative mandibular prognathism (bulging lower jaw)
  • syndactyly (characteristic limb defects of the digits in hands and feet
  • shorter than average and common to have mental retardation
19
Q

Treacher Collins Syndrome (Mandibulofacial Dysostosis)

A
  • an autosomal dominant defect that afefcts 1 in 50,000 live births
  • there is variable expressivity and features tend to be more extreme with each successive generation
  • appears as hypoplastic zygomas (narrow face with depressed cheeks and downward slanting palpebral fissures), coloboma (notch) on outer portion of the lower eye lid, 50% have no eye lashes medial to the coloboma, ears may have deformed or misplace pinna and extra tragus may be seen resulting in possible hearing loss, underdeveloped mandible resulting in retruded chin, cleft palate in 1/3 of cases
20
Q

Gardner’s Syndrome***

A
  • autosomal dominant with gene in chromosome 5, 1 in 16,000 live births, part of familial colorectal polyposis (developed in 2nd decade) where the polyps usually transform into adenocarcinoma (100% of patients get colon cancer by age 40)
  • appears as osteomas of the skull paranasal sinuses and mandible, epidermoid cysts of the skin (seen in Gorlin’s), increased prevalence of thyroid carcinoma (100x more in females), and pigmented lesions of the ocular fundas in 90% of patients
  • increase prevalence of odontomas, supernumerary teeth and impacted teeth
21
Q

Cleidocranial Dysplasia

A
  • clavicles are absent unilaterally or bilaterally (10% of cases), they show varying degrees of hypoplasia and malformation
  • appears as a long neck and droopy shoulders, short stature and large heads, frontal and parietal bossing with ocular hypertelorism and a broad base nose, narrow ascending ramus and slender pointed coronoid processes, the maxilla is often associated with a thin zygomatic arch and maxillary sinuses may be small or absent
  • dental issues include increased prevalence of cleft palate, prolonged retention of deciduous teeth and delayed or complete failure of eruption of permanent teeth, radiographs show many unerupted permanent and supernumerary teeth
22
Q

Peutz-Jeghers Syndrome

A
  • appears ass freckling of the hands and feet, perioral skin and oral mucosa in conjunction with intestinal polyposis, predisposition to develop cancer including GI adenocarcinoma in 2-3% of patients
  • tumors in pancreas, male and female genital tract, breast and ovary (18x higher than normal)
  • problems of GI obstruction with intussusception (telescoping of a proximal segment of the bowel into the distal portion)
  • think of curse mark on Sasuke
23
Q

Plummer-Vinson Syndrome

A
  • due to iron-deficiency anemia along with glossitis and dysphagia
  • associated with high incidence of oral and esophageal squamous cell carcinoma and considered premalignant
  • appears as koiloncyhia (nails show spoon shaped growth pattern), anemia, fatigue, shortness of breath, and weakness
24
Q

Down’s Syndrome (Trisomy 21)***

A
  • extra chromosome (#21), has incidence of 1 in 800-1000 live births
  • appears as mental retardation, saddle shaped nose, webbing of the neck, epicanthic folds, stocky stature, and macroglossia
  • increased incidence of periodontal disease, leukemia, and congenital heart defects
25
Q

Eagle Syndrome

A
  • due to elongation of the stylohyoid process or calcification of the stylohyoid ligament, common in 18-40% of population
  • although small number of patients experience symptoms it can appear as vague facial pain when swallowing, turning head and neck, or opening mouth due to calcified structure impingement on the adjacent nerves and blood vessels
  • common after tonsillectomy where scar tissue in the area of the mineralized stylohyoid
26
Q

Tricho-dento-osseous syndrome

A
  • autosomal dominant
  • appears as enamel hypoplasia and hypomaturation, kinky texture to the hair, osteosclerosis and brittle nails
  • mandible often exhibits an obtuse angle and shortened ramus, severe hypertaurodontism of M1
27
Q

Papillon-Lefevre Syndrome

A
  • rare 1 in 4 million, autosomal recessive syndrome
  • appears as palmar plantar keratosis (thickening of skin on palms and soles)
  • accelerated periodontal disease caused by defects of neutrophil function and multiple immune mediated mechanisms

Oral Histology (3 decks)

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