02-Connective Tissue Flashcards
- Q: What are the forms of chronic cutaneous lupus
A: Discoid lupus, hypertrophic lupus, LE-LP overlap, Chilblain LE, Tumid LE, Lupus panniculitis
- Q: Who does DLE most commonly affect?
A: African American women (2:1), young adults
- Q: What does Langue au chat refer to?
A: cat’s tongue – refers to the carpet tack-like follicular plugging that occurs in DLE
- Q: What is the most common location for DLE to occur?
A: Above neck – commonly affects the concha bowl and scalp
- Q: What do you need to worry about in long-standing DLE?
A: Squamous cell carcinoma
- Q: Childhood DLE has a higher progression to?
A: SLE – Childhood DLE has an equal incidence of M:F
- Q: What percentage of patients with DLE have SLE?
A: 5-15%
- Q: What percentage of SLE patients have DLE?
A: 25%
- Q: What percentage of patients with DLE will have a positive DIF on histology?
A: 75%
- Q: LE-LP overlap syndrome most commonly affects what anatomical area?
A: palmoplantar involvement – also oral w/ scarring alopecia
- Q: What mutation has been reported in familial forms of chilblain lupus?
A: TREX1 mutation
- Q: How often does tumid lupus have overlying epidermal involvement?
A: It doesn’t
- Q: Tumid lupus is considered an overlap with what other disease entities?
A: REM (reticular erythematous mucinosis) and jessner’s lymphocytic infiltrate
- Q: What percentage of tumid lupus patients will eventually develop SLE?
A: 50%
- Q: What percentage of tumid lupus patients will have overlying DLE?
A: 1/3rd
- Q: What anatomical area does lupus panniculitis usually spare?
A: Typically does not affect the distal extremities
- Q: What percentage of patients with SCLE will have SLE?
A: 30%
- Q: What percentage of patients with SCLE will have a positive ANA?
A: 80%
- Q: What antibody is often present in 70% of SCLE patients?
A: Ro/SSA: 70%
- Q: 10-15% of SCLE patients will develop internal symptoms, what do these include?
A: Arthritis, leukopenia, renal, CNS, and vascular complications.
- Q: What is the common clinical description of SCLE lesions?
A: Sun exposed scaly, annular plaques in white women (15-40)
- Q: 30% of SCLE cases are drug-induced, what are the common causes?
A: HANG NAIL – HCTZ, Ace Inh, NSAIDs, Griseofulvin, Nifedipine (CCBs), Anticonvulsants, Interferon, Lamisil
- Q: What is the most important treatment for both DLE and SCLE?
A: Sunscreen!!!!
- Q: Neonatal lupus is due to transferring of ___ antibody across placenta from affected mothers.
A: Ro/SSA antibody
- Q: What is the risk that a second child of a mother with a previously affected neonatal lupus pregnancy?
A: 25%
- Q: What medication can lower the risk of neonatal lupus to ~ 7% if initiated prior to 10 weeks gestation?
A: Hydroxychloroquine
- Q: What is the most serious complication associated with neonatal lupus?
A: Congenital third-degree heart block
- Q: If only __ ab is present, then there is no risk of heart block in neonatal lupus?
A: U1RNP
- Q: What are the other associations important in neonatal lupus?
A: thrombocytopenia, hepatobiliary disease
- Q: What is the clinical presentation seen in neonatal lupus?
A: periocular edema and erythema (‘raccoon’s eyes’) – none at birth, presents in first few weeks of life
- Q:Who does SLE affect?
A: Young to middle aged women (6:1), and African Americans (4:1).
- Q: Name the 11 criteria for SLE?
A: SOAP BRAIN MD – Serositis, Oral ulcerations, Arthritis, Pleuritis, Blood abnormalities (thrombocytopenia, leukopenia), Renal abnormalities (proteinuria), +ANA, Immunological abnormalities, Neurological abnormalities, Malar Rash, Discoid lesions
- Q: What is Rowell Syndrome?
A: EM-like lesions occurring in Lupus
- Q: What does ASAP syndrome stand for and what is its significance?
A: Acute Syndrome of Apoptotic Pan-Epidermolysis – TEN like presentation seen in SLE
- Q: What does Bullous SLE attack?
A: Type VII Collagen – HLA DR2 prominence
- Q: What medication does bullous SLE respond well to?
A: Dapsone
- Q: What is Sneddon Syndrome?
A: Livedo reticularis, cerebrovascular infarcts, HTN ( may have SLE)
- Q: What immunologic markers are specific for renal disease in Sneddon syndrome?
A: Anti-dsDNA, and anti-C1q
- Q: What are the medications implicated in drug-induced SLE?
A: HIP MMC – Hydralazine, Isoniazid, Procainamide, Phenytoin, Minocycline, Methyldopa, Chlorpromazine
- Q: What medication unmasks true SLE?
A: Penicillamine
- Q: What is the age distribution seen in DM?
A: Bimodal – children (10-15 years old) and adults (40-65)
- Q: Inflammatory muscle involvement without skin involvement is known as?
A: Polymyositis
- Q: In DM, skin findings usually precede muscle findings by how long?
A: 2-3 months
- Q: T/F: Bullous DM is a good prognositic feature?
A: False – poor prognostic indicator – severe myopathy with lung disease
- Q: What is the most important clinical feature seen in DM?
A: Poikiloderma
- Q: In dermatomyositis mechanic’s hands are associated with what antibodies?
A: anti-synthetase antibodies – indicated pulmonary involvement
- Q: What labs do you want to check in your dermatomyositis patients?
A: Aldolase, Creatine Kinase (PFT’s w/ CT if symptomatic, MRI with muscle biopsy if labs are positive)
- Q: Where should dermatomyositis patients have their muscle biopsies from?
A: Triceps (as deltoids may not show histologic evidence of myopathy until later in the disease)
- Q: Anti-Ku antibody is seen in what overlap syndrome?
A: Scleroderma and DM
- Q: Anti-synthetase antibodies (Anti-Jo1, anti-PL7, anti-PL12, anti-DJ, anti-EJ) correlate with what?
A: interstitial lung disease
- Q: What are the most common malignancies seen in DM (10-50% of cases) in men, women, and asian men?
A: Men: Colon, Women: Ovarian, Asian: Nasopharyngeal
- Q: What are the two types of childhood DM?
A: Brunsting (slow course, progressive weakness, calcinosis, steroid responsiveness), and Banker Type (vasculitis of muscles and GI tract, rapid onset, steroid unresponsive, and high death rate)
- Q: T/F: Is there an increase in malignancy in childhood DM?
A: False – no increase in malignancy. Also noted to have an increase in calcinosis cutis.
- Q: Anti-Mi2 has what type of prognosis in DM?
A: Good prognosis – shawl sign, cuticular disease
- Q:Anti-CADM5 is associated with?
A: Interstitial lung disease in Japanese
- Q: Anti-p155/140 is associated with?
A: Cancer – palmar involvement noted w/ this
- Q: What antibodies are associated with generalized morphea?
A: Anti-histone, and anti-ssDNA
- Q: What is Parry Romberg Syndrome?
A: Progressive hemifacial atrophy, epilepsy, exophthalmos, alopecia
- Q: CREST Syndrome is a form of localized systemic sclerosis. What clinical features in seen in CREST?
A: CREST; C-calcinosis, R-Raynaud’s, E-esophageal dysmotility, S- sclerodactyly, T - telangiectasias
- Q: What antibodies are seen in CREST syndrome?
A: Anticentromere ab
- Q: What criteria is needed for diagnosis of Systemic Sclerosis:
A: 1 major or 2 minor; Major: proximal scleroderma to MCP joints, Minor: Sclerodactyly, digital pitting scars of fingertips, b/l basilar pulmonary fibrosis
- Q: What is the terms of the distal nailbed adhering to the ventral nail plate?
A: Pterygium inversum unguis
- Q: What antibody is associated with systemic sclerosis?
A: anti-topoisomerase Scl-70
- Q: Exposure to what other agents have resulted in scleroderma like reactions?
A: L-tryptophan, contaminated rapeseed (toxic oil syndrome), silicosis, bleomycin, vinyl chloride
- Q: What organ is most commonly involved in systemic sclerosis?
A: esophagus (90%)
- Q: What is the major cause of death in systemic sclerosis?
A: Pulmonary disease
- Q: Groove sign, or dry river bed sign is seen in what disease?
A: Eosinophilic Fasciitis
- Q: T/F: You have to see eosinophils on H&E for diagnosis of eosinophilic fasciitis?
A: False – also, only 10-40% of cases have peripheral eosinophilia
- Q: What is Sharp’s syndrome?
A: Mixed Connective Tissue Disease – severe arthritis, hand edema (sausage digits), raynaud’s, esophageal dysmotility, pulmonary fibrosis (MC cause of death), lymphadenopathy
- Q: What is the most common antibody seen in MCTD?
A: U1RNP
- Q: Nephrogenic systemic fibrosis is often seen in what patients?
A: Patients on hemodialysis or pts recently exposed to gadalinium
- Q: In the new scoring system for nephrogenic systemic fibrosis, what histologic feature has the most points allocated?
A: osseous metaplasia
- Q: Stiff skin syndrome has been associated with what gene mutation?
A: Fibrillin -1 (also been implicated in systemic sclerosis) – sparing of inguinal folds
- Q: What clinical features are seen in Sjogren syndrome?
A: Primary: xerostomia, keratoconjunctivits sicca; Secondary: 2 items mentioned + autoimmune connective tissue disease
- Q: What association is most concerning with Sjogren’s syndrome?
A: Assoication with Non-hodgkin’s lymphoma
- Q: What is the most definitive diagnostic tool for Sjogren?
A: Lower labial lip salivary gland biopsy
- Q: What is the Schirmer test?
A: Whatman paper applied to the lower eyelid. Migration <5 mm over 5 min is abnormal
- Q: 80% of patients with Sjogren syndrome have what antibody?
A: Anti-Ro/SS-A
- Q: What is MAGIC syndrome?
A: Behcet’s disease and relapsing polychondritis – directed against type-II collagen antibodies
