Dermatology Pearls for 2014 - PowerPoint Presentation

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Dermatology Pearls for 2014American Board of Dermatology certifying exam

Michael W. Wangia, M.D.

Clinical Assistant

Professor

Dermatopathology

Fellow

University of Florida Department of Dermatology

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Objectives30 high-yield pearlsWhat I did to prepare

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“For every pearl at the bottom of the ocean, there is a ton of whale shit.”—Ernest Lee, M.D.

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1. Ipilimumab Mechanism of action Blocks CTLA-4 receptor†‡ on cytotoxic T lymphocytes, preventing their inhibition, allowing them to destroy melanoma cells

Adverse effects include

Facial swelling

Colitis

†

Also known as CD152

‡

Normally CTLA-4 stimulation inhibits T-cells

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2. Vemurafenib†Mechanism of action B-Raf protein inhibitorIndication

Treatment of BRAF V600E mutation

‡

positive

unresectable

or metastatic melanoma

†

Also known as PLX4032 and by the brand name Zelboraf®‡Substitution of valine (V) with glutamic acid (E) at codon 600

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3. DimethylaminopropylamineDMAPA is used in the formation of

cocamidopropyl

betaine

Cocamidopropyl

betaine

is found in liquid soaps and shampoos

DMAPA remains in products as contaminantDMAPA is important cause of eyelid dermatitis

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4. Angiopoietin receptorsTie-1 and Tie-2 are cell-surface receptors†Angiopoietins bind these receptors and promote angiogenesis

There are four

angiopoietins

Serum Ang2 levels are elevated in patients with

angiosarcoma

†

Mutations that lead to dysfunction of the Tie-2 receptor are associated with vascular malformations

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5. Viral-associated trichodysplasiaClosely linked with organ transplantation, immunosuppression†, and pre-B cell leukemiaFollicular spiny papules erupt on face

Likely due to a

polyomavirus

‡

Treat with

valganciclovir

†

Cyclosporin often cited‡A dsDNA virus and member of papovavirus family

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6. Merkel cell carcinomaMerkel cell polyomavirus (MCPyV)Wide local excisionSentinel lymph node biopsy in all cases

Adjuvant radiotherapy for lesions on head and neck with

locoregional

spread

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7. Coding excision sizeMalignant lesions are excised with marginsDiameter of resulting surgical defect (lesion + margins) termed “excised diameter”Excised diameter used to select proper CPT code to bill excision

A 6mm BCC on back excised with 4mm margins would result in a 1.4cm excised diameter (11602)

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Modifiers-25-59-79Review these in the AAD website

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8. Disseminated infundibulofolliculitisYoung dark-skinned patientsUniform 1—2mm papules on neck and upper trunkFigure 33-31 in Andrews’ 10th

edition on page 776

Treat with topical steroids, PUVA or

isotretinoin

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9. SyringomasOccur not just on face but also neck, chest, axillae, upper arms, and periumbilicallyFigure 111.22B in

Bolongia’s

2

nd

edition on page 1704

Figure 29-36 in Andrews’ 10

th

edition on page 664

Associated with Down syndrome, Nicolau–Balus syndrome, and Brooke-Spiegler syndrome

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10. Lupus miliaris disseminatus facieiRed-to-yellow papules on central face and around eyelidsHistology shows single superficial BB-like nodule

Central

caseation

necrosis

http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1070740-268.jpg

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11. Defects in keratin 5†‡Epidermolysis bullosa simplex§Dowling–Degos

' disease

Olmsted syndrome

†

For list of cutaneous conditions caused by mutations in keratins see: http://en.wikipedia.org/wiki/List_of_cutaneous_conditions_caused_by_mutations_in_keratins

‡

For more lists (some good, some not so good) of board-related fodder see: http://en.wikipedia.org/wiki/List_of_cutaneous_conditions#See_also

§

May be due to mutation in gene encoding keratin 5 and/or 14

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12. “Migrating” conditionsCreeping eruption (Cutaneous larva migrans) 2cm/dayLarva migrans profundus (Gnathostomiasis

) 1cm/hour

Larva

currens

10cm/day

Erythema

gyratum

repens 1cm/day

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13. Schöpf–Schulz–Passarge syndromeEctodermal dysplasiaDiffuse symmetric palmoplantar

keratoderma

Hypodontia

Multiple eyelid

apocrine

hidrocystomas

Syringofibroadenomas on extremitiesPoromas

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14. ErythrodontiaCongenital erythropoietic porphyriaHepatoerythropoietic porphyria

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15. Paraneoplastic pemphigusTarget antigens: desmoglein 1, desmoglein 3, BPAG1, plectin, desmoplakin

1,

desmoplakin

2,

envoplakin

,

periplakin

, unknown antigen (170kDa)

Notably not BPAG2††Do not confuse the various BP antigen synonyms due to exam stress: BPAG1 (BP230) BPAG2 (BP180, type XVII collagen)

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16. Eruptive xanthomasArise on buttocks and extensor surfaces of extremitiesHypertriglyceridemia

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17. VoriconazoleAzole antifungalProphylaxis against Aspergillus infectionAccelerates development of SCC’s

†

Photosensitivity

‡

and premature

photodamage

†

Skin cancer most frequent malignancy in organ transplant recipients (95% NMSC | SCC > BCC)

‡UVA-induced like most medication-related photosensitivity

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18. “Trench” conditionsTrench fever Bartonella quintana Pediculus humanus corporisTrench mouth

Mixed population of bacteria

Prevotella

intermedia

,

Fusobacterium

, Treponema and Selenomonas spp.,Trench foot

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19. Defects in p genesp53 Li–Fraumeni syndrome Actinic keratoses Squamous

cell carcinoma

p57

Beckwith–

Wiedemann

syndrome

p63

Hay–Wells syndrome (AEC syndrome)

EEC syndrome Rapp–Hodgkin syndrome

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20. Vismodegib†Mechanism of action Antagonizes membrane bound smoothened receptor leading to less activity of GLI transcription factor and ultimately decreased expression of tumor mediating genes‡

Adverse effects include

Muscle spasms

Alopecia

†

Used to treat locally advanced or metastatic BCC’s

‡

Inactivating PTCH mutations and activating SMO mutations cause most BCC's. Normal pathway: SSH binds PTCH, together they inhibit SMO leading to less GLI transcription factor going to nucleus (net result: decreased expression of tumor mediating genes).

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21. Becker’s nevusAssociated with a smooth muscle hamartomaTransient induration/elevation upon rubbing in 80% (pseudo-Darier's sign)

May occur on the forehead, cheek, chest, shoulder, forearm, wrist,

abdomen

, buttock, and shin

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22. Cold panniculitisCheeks of toddlers and young childrenResults from contact with popsicle or ice bagNo treatment necessary

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23. Extracellular matrix protein-1ECM-1 mutated in lipoid proteinosis†‡Targeted by autoantibodies in lichen sclerosus

†

Also know as

Urbach–Wiethe

disease

‡

Beaded papules on eyelid margin not the only finding. First clinical sign is weak cry due to deposition of hyaline-like material in laryngeal mucosa. Hoarseness remains throughout life. “Ice-pick”-like

acneiform

scars occur on face.

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24. Collagen types in cartilageII (2)†IX (9)†X (10)XI (11)†

XII (12)

XX (20)

XXVII (27)

†

Autoantibodies to collagen type 2, as well as 9 and 11, have been reported to cause relapsing

polychondritis

. This targeting of cartilage results in the red ears (sparing the lobes), arthritis, aortic aneurysms, and tracheal collapse.

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25. ClofazimineMechanism of action UnknownIndication Multibacillary leprosy (>5 lesions)

Adverse effects include

Orange–pink skin and body fluid discoloration

Ichthyosis

Fatal

enteropathy

†

†Due to crystal deposition in the small bowel mucosa

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26. GNAS1 geneEncodes G protein α-subunit that regulates adenylate cyclase activityNormal function is to negatively regulate bone formation

Mutated in several conditions including

Progressive osseous

heteroplasia

Plate-like

osteoma

cutis

Albright hereditary

osteodystrophy McCune–Albright syndrome

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27. WHIM syndromeWartsHypogammaglobulinemiaInfections

†

M

yelokathexis

‡

Mutated

chemokine

receptor CXCR4 gene

§†Namely recurrent bacterial infections such as sinusitis, cellulitis, periodontitis, and meningitis‡Chronic peripheral neutropenia

due to retention of

neutrophils

in the bone marrow

§

Autosomal

dominant

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28. Paraphenylenediamine (PPD)Common contact allergen found in Black hair dye, scuba gear, henna†

Cross-reacts with

P

ara-

aminobenzoic

acid (PABA),

a

zo dyes, sulfonamides/sulfonylureas, thiazides, ester anesthetics‡Neutrophilic and eosinophilic dermatitis

†

Not found in pure henna

‡

PPD + PASTE

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29. OmalizumabMechanism of action

Humanized monoclonal IgG

1

 antibody that binds to

IgE

preventing interaction with receptor (

FcϵRI

) on mast cells and

basophilsHas been used to treat urticaria, atopic dermatitis, and bullous pemphigoid†

†

IgG

not only circulating auto-antibody

isotype

in

bullous

pemphigoid

, but also

IgE

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30. Oral fibromaMost common “tumor” of the oral cavityLocated along bite line of the buccal mucosaCured by conservative surgical excision

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Miscellaneous RandomsImatinib/GleevecTreatment of DFSP with + PDGFR-COL1A1 mutation Treatment of hypereosinophilic syndrome with mutation in FIP1L1-PDGFR alpha mutation.

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IPMutation? NEMO. Affects NF-KB. What is the purpose of NF-KB? - protects against TNF-induced apoptosis

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Vascular lesions?Wiebel palade bodies. These are essentially storage granules of endothelial cells. Contain vWF and P-selectin. Play dual role in both hemostasis and

inflammation

Bier spots are small erythematous blanching macules. Essentially benign physiologic vascular anomaly of no significance clinically. Know both malignant and benign vascular tumors and lesions.

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FibromatosisJuvenile hyaline fibromatosis – (nodular lesions on hands, scalp and face with gingival hypertrophy and associated joint contractures). Bx shows nodular hyaline fibrosis). Genetic mutation associated? CMG2 (capillary morphogenesis protein-2). Or ANTXR2 mutations (anthrax toxin receptor 2).

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What I did to prepareNote taking and memorizationClinical imagesPathologyPractice questions

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Note taking and memorization (I) Leading up to month prior to exam Read through and took notes from

Bolognia’s

– put more emphasis on photos and tables

entire 2

nd

edition (ISBN 1416029990)

Read entire Andrews 2 months prior to the boards

Spent 2 weeks prior to the test day My goal was to review, re-review,

and memorizing above

notes every two weeks

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Note taking and memorization (II)During one month prior to exam Skimmed Genodermatoses (i.e. "Spitz" | ISBN 0781740886) and added to my notes when needed Reviewed notes from

2013

Florida Dermatology &

Dermatopathology

Board Review Course

Re-reviewed my own notes

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Clinical imagesDuring one month prior to exam reviewed all images in: Andrews’ 11th editions Bolognia’s

2

nd

edition

Color Atlas of Dermatology

1

st and 2nd editions (i.e. "Callen" | ISBN 0721637566 and 0721682561)Atlas of Clinical dermatology 4th ed Du Vivier

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DermatopathologyDuring one month prior to exam† Reviewed Elston front to back Watched all the PowerPoint lectures by Dr.

Elston

found on the

Dermatopathology

: Requisites in Dermatology

website

‡

Reviewed all the online DLCS study slide sets

§†Note: I also attended two review courses, the Barron Board Review and the Florida Dermatology & Dermatopathology Board Review Course, both of which had slide reviews‡http://www.requisitesindermatology.com/dermatopathology_ppt.php§http://dermpathlab.com/residents/slide-study-set-program

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Practice questionsDuring one month prior Reviewed all ETAS practice questions† Reviewed all questions in the ASDS Primer in Dermatologic Surgery: A Study Companion‡

†

http://dermatologyinreview.com/Galderma

‡

http://www.asds.net/primerbook.aspx

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What I did NOT do to prepareGalderma Preboard Seminar review courseQuizes in McGraw-Hill Specialty Board Review Dermatology: A Pictorial Review (ISBN 0071597271)Journal review

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**** REVIEW SCLEROTHERAPY (slerosing agents, side effects etc); HAIR TRANSPLANTATION; AND FOCUS ON TECHNIQUE AND MAJOR COMPLICATIONS.- Recommend using

Bolognia

and Surgery Primer

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Questions?

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ReferencesBooks (ISBN):Andrews' Diseases of the Skin: Clinical Dermatology (1437703143)Dermatology (0723435715)Hurwitz Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence

(1437704123)

Papers (PMID):

A review of radiotherapy for

merkel

cell carcinoma of the head and neck (23213534)

Clofazimine

: a review of its medical uses and mechanisms of action (7829710)

Cutaneous toxic effects associated with vemurafenib and inhibition of the BRAF pathway (22431713)Disseminate and recurrent infundibulofolliculitis: response to isotretinoin (15303788)Eyelid dermatitis: contact allergy to 3-(dimethylamino)propylamine

(9134437)

Human

papillomavirus

typing of

verrucae

in a patient with WHIM syndrome (20713842)

Neutrophilic

and

eosinophilic

dermatitis caused by contact allergic reaction to

paraphenylenediamine

in hair dye (23165836)

Observations on

angiopoietin

2 in patients with

angiosarcoma

(15149523)

Routine omission of sentinel lymph node biopsy for

merkel

cell carcinoma <= 1 cm is not justified (19933899)

Schöpf

-Schulz-

Passarge

syndrome: further delineation of the phenotype and genetic considerations (19002348)

Skin cancer in solid organ transplant recipients: advances in therapy and management (21763561)

Successful treatment of

bullous

pemphigoid

with

omalizumab

(23165827)

The genesis of

Zelboraf

: Targeting mutant B-

Raf

in melanoma (23027900)

Trichodysplasia

of

immunosuppression

treated with oral

valganciclovir

(19103376)

Viral-associated

trichodysplasia

in patients who are

immunocompromised

(14726896)

Voriconazole

-associated

phototoxicity

(21382298)

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Thank Dr. Brendan Thomas for his inputwangim@dermatology.med.ufl.edu