Chapter 1: Developmental Defects Flashcards
Orofacial
clefts
-‐ CL=45%; CL+CP=30% (etiologically related); CPO=25%; 30% of CL ± CP and 50% CPO syndromic
-‐ Asians have highest prevalence of orofacial clefts. Majority of CL are unilateral, left side.
-‐ Environmental risks: mom smoking/drinking, folic acid def, corticoids or anticonvulsants use
-‐ Lateral facial cleft (from commissure to ear): associated with Treacher Collins, hemifacial microsomia, Nager acrofacial dysostosis and amniotic rupture sequence
-‐ Oblique facial cleft (upper lip to eye): assoc w/ CP
-‐ Median cleft of upper lip: associated with oral-‐facial-‐digital syndrome and Ellis van Crevelde
-‐ Bifid uvula: minimal manifestation of CP
-‐ Submucous palatal cleft: affects muscle only, with surface mucosa intact
-‐ Pierre-‐Robin: CP, mandibular micrognathia, glossoptosis (airway obstruction caused by posterior displacement of tongue). Assoc w/ Stickler and velocardiofacial syndrome. SOX9/KCNJ2 genes.
-‐ DiGeorge’s sydrome: Absent or hypoplastic thymus, defective cellular immunity and tetany.
CATCH-‐22 (Cardiac anomaly, Abnormal fascies, Thymic aplasia, Cleft palate and Hypocalcemia/Hypoparathyroidism), Chr 22 abnormality.
Commissural lip pits
-‐ Small mucosal invaginations at corners of mouth on vermillion border
-‐ Pts have higher prevalence of preauricular pits (aural sinuses)
Paramedian lip pits
-‐ Invaginations on lower lip. Seen in 3 syndromes:
-‐ Van der Woude syndrome: CL ± CP. Most common cause of syndromic clefting. IRF-‐6 mutation.
-‐ Popliteal pteryigium syndrome: CL ± CP, popliteal pterygia (webbing behind knee), genital abnormalities and syngnathia (connection upper and lower jaw). IRF-‐6 mutation
-‐ Kabuki syndrome: CL ± CP, eversion of eyelids, mental retardation, joint laxity, skeletal abnormalities, large ears and hypodontia
Bifid tongue
-‐ Complete or incomplete (deep furrow along midline dorsum or double ending at tip of tongue)
-‐ Orofacial digital syndrome: bifid tongue, multiple hyperplastic frenula (upper/lower)
Double lip
-‐ Redundant fold of tissue on mucosal side of lip
-‐ Ascher syndrome: double lip, upper eyelids edema (blepharochalasis), non-‐toxic thryroid enlargement (thyrotoxocosis)
Leukoedema
-‐ Also see in vagina, larynx, FOM, labial mucosa and palatal pharyngeal tissues
Microglossia
-‐ Oromandibular-‐limb hypogenesis syndromes: microglossia, hypodactylia (absence of digits) and hypomelia (hypoplasia of limbs)
-‐ Microglossia can be associated with hypoplasia of mandible and lower incisors may be missing
Macroglossia (specifically Beckwith-Wiedemann)
-‐ Beckwith-‐Wiedemann syndrome: macroglossia, omphalocele, visceromegaly, visceral tumors (Wilms’, adrenal ca), gigantism and neonatal hypoglycemia. Chr 11 defect.
-‐ Facial: port wine stain, earlobe indentations and posterior ear pit, and maxillary hypoplasia.
Macroglossia causes
Congenital vs Acquired
Congenital and Hereditary
-Vascular malformations
-Lymphangioma
-Hemangioma
-Hemi hyperplasia
-Cretinisn-l
-Beckwith-Wiedemann syndrome
-Down syndrome
-Duchenne muscular dystrophy
-Mucopolysaccharidoses
-Neurofibromatosis type I
-Multiple endocrine neoplasia, type 2B
Acquired
-Edentulous patients
-Amyloidosis
-Myxedema
-Acromegaty
-Angioedema
-Wasthenia gravis
-Amyotrophic återal sclerosis
-Carcinoma ard other tumors
Lingual thyroid
-‐ Ectopic thyroid tissue. 90% found in foramen ceccum region.
-‐ 4-‐7x more in females. In 70% of the cases, it’s pts’ only thyroid tissue (avoid removal)
-‐ 30% have hypothyroidism (lingual thyroid is compensatory?).
-‐ 75% of patients with infantile hypothyroidism have some ectopic thyroid tissue
-‐ Dx: thyroid scan (avoid biopsy: hemorrhage and may be pt’s only thyroid tissue).
-‐ No tx required, but 1% develop into malignancy (more common in males)
Fordyce granules
50-‐90x increase in Lynch syndrome (hereditary nonpolyposis colorectal cancer syndrome)
Fissured tongue
-‐ Strong association with geographic tongue
-‐ Melkerson-‐Rosenthal syndrome: fissured tongue, facial paralysis, lip swelling
Hairy tongue
-‐ Keratin accumulation on filliform papillae
-‐ Causes: tobacco, poor OH, debilitation, antibiotics and radiotherapy
-‐ Coated tongue: accumulation of bacteria and epithelial cells, w/o hairlike filliform projections
Black hairy tongue cause
Bismuth
Likely Pepto bismol
Varicosities
-‐ Most common type is subligual varix
-‐ Isolated varices: lips and buccal mucosa. Typically noticed after thrombosis
-‐ Lines of Zahn: layered zones of platelets and RBC in thrombosed varix
-‐ Phlebolith: dystrophic calcification of a thrombus
Caliber-‐persistent artery
-‐ Main arterial branch extends up w/o reducing diameter
-‐ Due to loss of tone? Appears as a papule on lip, w/ pulsation.
