Pathology Flashcards
Van der Woude syndrome:
Lip pits + cleft
Melkersson-Rosenthal Syndrome
fissured tongue + granulomatous cheilitis + facial
paralysis
Sturge-Weber Syndrome
angiomas of leptomeninges (arachnoid and pia mater) + skin
along the distribution of the trigeminal nerve
Peutz-Jeghers Syndrome=
freckles + intestinal polyps
Ramsay Hunt Syndrome=
herpes zoster reactivation in geniculate ganglion affecting cranial nerves VII and VIII resulting in facial paralysis, vertigo, deafness
Congenital Syphilis=
Hutchinson’s triad (notched incisors
and mulberry molars, deafness, ocular keratitis)
Behcet’s Syndrome=
multisystem vasculitis that causes aphthous-type ulcers of oral and genital, and inflammation of eye
Plummer-Vinson Syndrome=
mucosal atrophy + dysphagia+ iron deficiency anemia + increased risk of oral cancer
Multiple Endocrine Neoplasia (MEN 2B)=
multiple neuromas + medullary thyroid cancer
+ pheochromocytoma of the adrenal gland
Neurofibromatosis type I/Von
Recklinghausen’s disease =
multiple
neurofibromas + multiple skin freckles (café au
lait spots) + axillary freckles (Crowe’s sign) +
iris freckles (Lisch spots); neurofibromas can
transform to neurofibrosarcomas here
Lofgren’s Syndrome=
erythema nodosum + bilateral hilar
lymphadenopathy + arthritis
Heerfordt Syndrome=
anterior uveitis + parotid gland enlargement
+ facial nerve palsy + fever; also called uveoparotid fever
Gorlin Syndrome=
multiple KCOTs, multiple BCCs,calcified falx cerebri, fatal, also called nevoid basal cell carcinoma
Gardner Syndrome=
multiple odontomas + intestinal
polyps
McCune-Albright Syndrome=
polyostotic (more than one bone) fibrous dysplasia + cutaneous
café au lait spots + endocrine abnormalities like
precocious puberty
Von Recklinghausen’s disease of bone=
the result of
this condition (not to be confused with von
Recklinghausen’s disease aka neurofibromatosis)
Hemifacial microsomia
is the second most common congenital craniofacial condition after cleft lip/palate, occurring in about 1 in every 3500 newborns. Poor vasculature of the first and second pharyngeal arches during the first trimester cause facial deformities consisting most commonly of an underdeveloped ear, mouth, and mandible.
Crouzon syndrome
is an autosomal dominant disorder characterized by premature fusion of the coronal and lambdoid sutures. This results in a short and broad skull, bulging eyes, frontal bossing, and midface hypoplasia including a short upper lip. Patients can experience vision and hearing difficulties, but do not have intellectual disabilities
Marfan syndrome
is an autosomal dominant connective tissue disorder that results in production of defective fibrillin-1 protein. Elastin is heavily altered because of this, with cardiovascular, musculoskeletal, and ocular effects. Patients can present with aortic aneurysms, long extremities, joint hypermobility (including the TMJ), and subluxation of the lens of the eye.
Treacher Collins syndrome
is a genetic condition characterized by malar hypoplasia, downward slanting palpebral fissures, and hypoplastic condylar and coronoid processes.
Pierre Robin sequence (PRS) is
a congenital disorder presenting with a classic triad of micrognathia, glossoptosis, and airway obstruction.
Apert Syndrome is
an autosomal dominant condition caused by mutations in the FGFR2 gene on chromosome 10. Clinical manifestations include bicoronal synostosis, maxillary hypoplasia, hypertelorism, proptosis, polydactyly, and syndactyly. Affected children may also have intellectual disability.
