f a p a 2007 congenital dermatological problems

Congenital Dermatological Congenital Dermatological ProblemsProblemsProblemsProblems

We can help them before they can We can help them before they can help themselveshelp themselves

Welcome FAPA Winter Symposium Welcome FAPA Winter Symposium A dA dAttendeesAttendees

Dave Kotun, NSU PA Program, OrlandoDave Kotun, NSU PA Program, Orlando 22

Overview of DiseasesOverview of DiseasesOverview of DiseasesOverview of Diseases

NeurofibromatosisNeurofibromatosisNeurofibromatosisNeurofibromatosisVitiligoVitiligoAl i tAl i tAlopecia areataAlopecia areataIchthyosisIchthyosisErythropoetic porphyriaErythropoetic porphyriaCongenital nevusCongenital nevusCongenital nevusCongenital nevusMelanomaMelanoma


ObjectivesObjectivesObjectivesObjectivesAfter completing this lecture, the participant will be After completing this lecture, the participant will be bl tbl table to:able to:

1.1. Recognize the most common congenital Recognize the most common congenital dermatologic problems in young children and list dermatologic problems in young children and list it f f d hi t d h i lit f f d hi t d h i litems for a focused history and physical exam.items for a focused history and physical exam.

2.2. Describe the prominent clinical features of each of Describe the prominent clinical features of each of the described problems.the described problems.

ff3.3. List available treatment modalities for the congenital List available treatment modalities for the congenital dermatological problems.dermatological problems.


And also:And also:And also:And also:Recall the problems discussed from the Recall the problems discussed from the ppfollowing list:following list:1.1. NeurofibromatosisNeurofibromatosis2.2. Congenital nevusCongenital nevus3.3. MelanomaMelanoma4.4. VitiligoVitiligo5.5. Alopecia areata/totalisAlopecia areata/totalis6.6. IchthyosisIchthyosis7.7. Erythropoietic PorphyriaErythropoietic Porphyria


NeurofibromatosisNeurofibromatosisIntroduction Introduction –– “Elephant Man Disease”“Elephant Man Disease”

Autosomal dominant Autosomal dominant Aff t b ki d tAff t b ki d tAffects bone, skin, and nervous systemAffects bone, skin, and nervous systemEight clinical phenotypesEight clinical phenotypesTwo genetic disordersTwo genetic disordersTwo genetic disordersTwo genetic disorders

IncidenceIncidenceNeurofibromatosisNeurofibromatosis--1 (NF1), peripheral NF1 (NF1), peripheral NF

1 in 251 in 25--33K births33K birthsNeurofibromatosisNeurofibromatosis--2 (NF2), central NF2 (NF2), central NF

1 in 501 in 50--120K births120K births1 in 501 in 50 120K births120K birthsSegmental NF Segmental NF –– single body regionsingle body region

Due to segmental conditional hyperexpression, mosaicism, Due to segmental conditional hyperexpression, mosaicism, or heterozygosity lossor heterozygosity loss


or heterozygosity lossor heterozygosity loss

NeurofibromatosisNeurofibromatosisNeurofibromatosisNeurofibromatosis

PathophysiologyPathophysiologyPathophysiologyPathophysiologyNeurocutaneousNeurocutaneous

Any organ system may be involvedAny organ system may be involvedy g y yy g y yNo racial or gender preferenceNo racial or gender preferenceCutaneous manifestations can be mild to Cutaneous manifestations can be mild to disfiguringdisfiguringIncreased mortality derives from the Increased mortality derives from the increased malignant potential of the diseasedincreased malignant potential of the diseasedincreased malignant potential of the diseased increased malignant potential of the diseased tissues and neurofibrosarcomastissues and neurofibrosarcomasNFNF –– have up to 15% greater malignancy riskhave up to 15% greater malignancy risk


NF NF have up to 15% greater malignancy risk have up to 15% greater malignancy risk

NeurofibromatosisNeurofibromatosisHistoryHistory and physical examand physical exam

CaféCafé auau lait are not usually seen at birthlait are not usually seen at birthCaféCafé--auau--lait are not usually seen at birthlait are not usually seen at birthDevelop before age 3Develop before age 3

Neurofibromas form in adolescenceNeurofibromas form in adolescenceNeurofibromas form in adolescenceNeurofibromas form in adolescencePatient complaintsPatient complaints

Skin discolorationSkin discolorationSkin discolorationSkin discolorationPain (due to neurofibromas)Pain (due to neurofibromas)Pathologic fracturesPathologic fracturesPathologic fracturesPathologic fracturesHypertensive headache (due to Hypertensive headache (due to pheochromocytoma)pheochromocytoma)


NeurofibromatosisNeurofibromatosisNeurofibromatosisNeurofibromatosisHistory and History and physical examphysical exam

Unusual pigment patternsUnusual pigment patternsUnusual pigment patternsUnusual pigment patternsIrregularly shaped, evenly pigmented, light brown macules Irregularly shaped, evenly pigmented, light brown macules ––café au laitcafé au lait

6 or more 1 5 cm spots for older children6 or more 1 5 cm spots for older children6 or more 1.5 cm spots for older children6 or more 1.5 cm spots for older children5 or more 0.5 cm spots for younger children5 or more 0.5 cm spots for younger childrenLess than 1% of healthy kids have 3 or more spotsLess than 1% of healthy kids have 3 or more spots

Lisch nodulesLisch nodulesLisch nodules Lisch nodules Hamartomas in the iris on slit lampHamartomas in the iris on slit lampUncommon in healthy childrenUncommon in healthy children

A ill d/ i l f kliA ill d/ i l f kli C iC iAxillary and/or perineal freckling Axillary and/or perineal freckling –– Crowe signCrowe signDevelops during pubertyDevelops during puberty

Freckling and hypertrichosis can hide neurofibromasFreckling and hypertrichosis can hide neurofibromas


Crowe Sign & Plexiform NevusCrowe Sign & Plexiform NevusCrowe Sign & Plexiform NevusCrowe Sign & Plexiform Nevus



History andHistory and physical examphysical examHistory and History and physical examphysical examNeurofibromas Neurofibromas –– Schwann cellsSchwann cells

Any place along a nerveAny place along a nerveAny place along a nerveAny place along a nerveTypesTypes

Cutaneous and subcutaneousCutaneous and subcutaneousCircumscribedCircumscribedBrown, pink, or eupigmentedBrown, pink, or eupigmentedInvaginate when pressedInvaginate when pressedInvaginate when pressedInvaginate when pressed

PlexiformPlexiformNoncircumscribed, thick, irregularNoncircumscribed, thick, irregularDi fi iDi fi i


DisfiguringDisfiguring


History andHistory and physical examphysical examHistory and History and physical examphysical examNeurologic abnormalitiesNeurologic abnormalities

Acoustic nerve problemsAcoustic nerve problemsppOptic gliomasOptic gliomasOther tumorsOther tumors

Astrocytoma meningioma imtramedullary gliomaAstrocytoma meningioma imtramedullary gliomaAstrocytoma, meningioma, imtramedullary glioma, Astrocytoma, meningioma, imtramedullary glioma, ependymomaependymomaResult Result –– increased intracranial pressure, seizure, ataxia, increased intracranial pressure, seizure, ataxia, other cranial nerve abnormalitiesother cranial nerve abnormalitiesother cranial nerve abnormalitiesother cranial nerve abnormalities

SchwanomasSchwanomasUncommon in NFUncommon in NF--11Most common tumor in NFMost common tumor in NF 22


Most common tumor in NFMost common tumor in NF--22


History andHistory and physical examphysical examHistory and History and physical examphysical examLearning disabilitiesLearning disabilities

NFNF--1: 251: 25 –– 40 %40 %NFNF--1: 25 1: 25 –– 40 % 40 % Mental retardation: 5 Mental retardation: 5 –– 10%10%

EndocrineEndocrineShort stature and GH deficiencyShort stature and GH deficiencySexual precocity due to tumorSexual precocity due to tumorPheochromocytoma Pheochromocytoma



Diagnostic criteria review (NFDiagnostic criteria review (NF--1) need 21) need 2Diagnostic criteria review (NFDiagnostic criteria review (NF 1), need 21), need 2CaféCafé--auau--laitlait≥ 6 (>5mm) prepubertal;(>15mm) postpubertal≥ 6 (>5mm) prepubertal;(>15mm) postpubertal≥ 6 (>5mm) prepubertal;(>15mm) postpubertal≥ 6 (>5mm) prepubertal;(>15mm) postpubertal≥ 2 neurofibromas or 1 plexiform neurofibroma≥ 2 neurofibromas or 1 plexiform neurofibromaAxillary or inguinal frecklingAxillary or inguinal frecklingy g gy g gOptic gliomaOptic glioma≥2 iris hamartomas (Lisch nodules)≥2 iris hamartomas (Lisch nodules)Osseous lesions Osseous lesions –– sphenoid dysplasia, cortical sphenoid dysplasia, cortical thinning, thinning, ±± pseudoarthrosispseudoarthrosisFirst degree relative with NFFirst degree relative with NF 11


First degree relative with NF First degree relative with NF -- 11


Diagnostic criteria for NFDiagnostic criteria for NF –– 22Diagnostic criteria for NF Diagnostic criteria for NF 22Bilateral CN VIII (Vestibulocochlear, Acoustic) Bilateral CN VIII (Vestibulocochlear, Acoustic) masses on imagingmasses on imagingmasses on imagingmasses on imagingFirst degree relative with NF First degree relative with NF –– 2 and:2 and:

CN VIII mass (unilateral) orCN VIII mass (unilateral) orCN VIII mass (unilateral) orCN VIII mass (unilateral) or2 of the following:2 of the following:

NeurofibromaNeurofibromaMeningiomaMeningiomaGliomaGliomaSchwannomaSchwannoma

Dave Kotun, NSU PA Program, OrlandoDave Kotun, NSU PA Program, Orlando 1515Posterior subcapsular opacity (juvenile)Posterior subcapsular opacity (juvenile)

NeurofibromatosisNeurofibromatosis

CausesCausesCausesCausesAutosomal dominantAutosomal dominant

NFNF –– 1 gene on band 17q11 21 gene on band 17q11 2NF NF –– 1 gene on band 17q11.21 gene on band 17q11.2NF NF –– 2 gene on band 22q112 gene on band 22q11Both encode neurofibrominBoth encode neurofibromin

Variable phenotypic expression both within Variable phenotypic expression both within families and as the disease changes with timefamilies and as the disease changes with timeCutaneous (nuisance) to disfiguring and life Cutaneous (nuisance) to disfiguring and life threateningthreatening


NeurofibromatosisNeurofibromatosisNeurofibromatosisNeurofibromatosisDiagnosisDiagnosis

Genetic techniques are not readily availableGenetic techniques are not readily availableImaging of suspected patients Imaging of suspected patients –– MRI MRI

Orbits and auditory canals for NF Orbits and auditory canals for NF –– 1 and 2 respectively1 and 2 respectivelyPET ith 18 fl rodeo gl cose (FDG)PET ith 18 fl rodeo gl cose (FDG)PET with 18 flurodeoxyglucose (FDG) PET with 18 flurodeoxyglucose (FDG)

For plexiform neurofibromasFor plexiform neurofibromasCT in NF CT in NF –– 1 1

Surface neurofibromasSurface neurofibromasSurface neurofibromasSurface neurofibromasFocal thoracic scoliosisFocal thoracic scoliosisVertebral scallopingVertebral scallopingEnlarged foraminaEnlarged foraminaRib t hi t t t lRib t hi t t t l ff tff tRib notching next to costal nerves Rib notching next to costal nerves –– mass effectmass effect

Slit lamp in children > 6 Slit lamp in children > 6 CaféCafé--auau--lait Wood’s lamp exam lait Wood’s lamp exam



CareCareCareCareExcision of tumorsExcision of tumorsInvestigate epilepsyInvestigate epilepsyInvestigate epilepsy Investigate epilepsy

ConsultationsConsultationsOrthoOrthoOrthoOrthoPlasticsPlasticsPsychPsychyySpeechSpeechGenetic counselingGenetic counseling


gg


FollowFollow--upupFollowFollow upupYearly PE and ophthalmologic examYearly PE and ophthalmologic examMonitor for growth pain or change inMonitor for growth pain or change inMonitor for growth, pain, or change in Monitor for growth, pain, or change in neurofibromasneurofibromasNeuro exams annually with imaging ifNeuro exams annually with imaging ifNeuro exams annually with imaging if Neuro exams annually with imaging if indicatedindicated

ComplicationsComplicationsComplicationsComplicationsMalignant transformationsMalignant transformations

Dave Kotun, NSU PA Program, OrlandoDave Kotun, NSU PA Program, Orlando 1919Reggie Bibbs from FOX News interview

VitiligoVitiligoVitiligoVitiligo

IntroductionIntroductionIntroductionIntroductionUnknown causeUnknown causeMelanocytes are destroyedMelanocytes are destroyedMelanocytes are destroyed Melanocytes are destroyed

Possibly autoimmune etiologyPossibly autoimmune etiology1% of the population is affected1% of the population is affected1% of the population is affected1% of the population is affectedNo gender preferenceNo gender preferenceUsually detected before 20 y oUsually detected before 20 y oUsually detected before 20 y.o.Usually detected before 20 y.o.

In a area of damaged skinIn a area of damaged skin



PathophysiologyPathophysiologyPathophysiologyPathophysiologyAutoimmuneAutoimmuneAlso affects mucosa, eyes, inner ear, hairAlso affects mucosa, eyes, inner ear, hairAlso affects mucosa, eyes, inner ear, hairAlso affects mucosa, eyes, inner ear, hairVitiligo vulgaris Vitiligo vulgaris –– common formcommon formPatients are predisposed to Patients are predisposed to p pp p

Alopecia AreataAlopecia AreataThyroid disordersThyroid disordersAddi ’ diAddi ’ diAddison’s diseaseAddison’s diseasePernicious anemiaPernicious anemiaDiabetes mellitusDiabetes mellitus


Diabetes mellitusDiabetes mellitus


DiagnosisDiagnosisDiagnosisDiagnosisStraightforward on history and physical exam Straightforward on history and physical exam

ComplicationsComplicationsComplicationsComplicationsDisfiguringDisfiguringPsychologically tryingPsychologically tryingNo serious health problemsNo serious health problems



TreatmentTreatmentTreatmentTreatmentImmune system suppressionImmune system suppressionSurgical melanocytic transplantSurgical melanocytic transplantSurgical melanocytic transplantSurgical melanocytic transplantRepigmentation occurs slowly as new Repigmentation occurs slowly as new melanocytes return from the lesion edgesmelanocytes return from the lesion edgesmelanocytes return from the lesion edgesmelanocytes return from the lesion edges



ModalitiesModalitiesModalitiesModalitiesTopical steroidsTopical steroids

2X daily for 32X daily for 3 –– 6 months6 months2X daily for 3 2X daily for 3 –– 6 months6 monthsCaution Caution –– monitor for overabsorptionmonitor for overabsorption

Psoralen and UV light (PUVA)Psoralen and UV light (PUVA)Psoralen and UV light (PUVA)Psoralen and UV light (PUVA)Causes sun sensitivityCauses sun sensitivity

Ultra violetUltra violet –– B (UVB)B (UVB)Ultra violet Ultra violet B (UVB) B (UVB) May be safer than PUVAMay be safer than PUVA


VitiligoVitiligoVitiligoVitiligoModalities (cont.)Modalities (cont.)( )( )

SurgerySurgeryAutologus skin graftsAutologus skin grafts

Thigh or buttocksThigh or buttocks90% response90% responseCan be spotty or irregularCan be spotty or irregular

Excimer lasersExcimer lasersNarrow band UV Narrow band UV –– B lightB light

P t i t tiP t i t tiPromote repigmentation Promote repigmentation Several treatmentsSeveral treatments


The XTRAC® excimer laser treatment system from PhotoMedex


Modalities (cont )Modalities (cont )Modalities (cont.)Modalities (cont.)Cosmetic coversCosmetic covers

Used when medical treatmentUsed when medical treatmentUsed when medical treatment Used when medical treatment is ineffectiveis ineffective

CovermarkCovermark®®

D bl dD bl d ®®Dermablend Dermablend ®®

Sunless tanning Sunless tanning preparationspreparationspreparationspreparationsAvoid sun exposure to Avoid sun exposure to minimize contrast minimize contrast


Alopecia areata et alAlopecia areata et alAlopecia areata et.al.Alopecia areata et.al.

EtiologyEtiologyEtiologyEtiologyMultiple causesMultiple causes

Signs and symptomsSigns and symptomsSigns and symptomsSigns and symptomsHair loss Hair loss –– can be seen or the patient will tell can be seen or the patient will tell youyouyouyou

TreatmentTreatmentCosmetic or underlying causeCosmetic or underlying cause



EtiologyEtiologyEtiologyEtiologyTypesTypes

Nonscarring / diffuseNonscarring / diffuseNonscarring / diffuseNonscarring / diffuseNonscarring / focalNonscarring / focalScarring / focalScarring / focalgg



Nonscarring / diffuseNonscarring / diffuseNonscarring / diffuseNonscarring / diffuseMale and female pattern baldnessMale and female pattern baldness

AndrogenicAndrogenicAndrogenicAndrogenicDHT conversionDHT conversionMaleMale

Begins at the temples and vertexBegins at the temples and vertex

FemaleFemaleB i f l i l dB i f l i l dBegins at frontal, parietal and crownBegins at frontal, parietal and crownHair thinning is characteristicHair thinning is characteristic


Alopecia areata et alAlopecia areata et alAlopecia areata et.al.Alopecia areata et.al.Nonscarring / diffuseNonscarring / diffusegg

Telogen effluviumTelogen effluviumHairs enter the resting phase simultaneouslyHairs enter the resting phase simultaneouslyShedding is noticed in the recovery phaseShedding is noticed in the recovery phaseShedding is noticed in the recovery phaseShedding is noticed in the recovery phaseStress and nutritional deficienciesStress and nutritional deficienciesDrugs Drugs

Chemotherapeutic agents H2Chemotherapeutic agents H2 blockers oral contraceptivesblockers oral contraceptivesChemotherapeutic agents, H2Chemotherapeutic agents, H2--blockers, oral contraceptives, blockers, oral contraceptives, ACEIs, ACEIs, ββ--blockers,blockers, lithium, clofibrate, ibuprofen, benzafibrate, lithium, clofibrate, ibuprofen, benzafibrate, trimethadione, valproate, penicillamine, interferon, ranitidine, trimethadione, valproate, penicillamine, interferon, ranitidine, sulindac, tamoxifen, terfenadine, thiamphenicolsulindac, tamoxifen, terfenadine, thiamphenicol

StressStressEndocrine changesEndocrine changes

Anagen effluviumAnagen effluvium 2° to Chemo


gg


Nonscarring / diffuseNonscarring / diffuseNonscarring / diffuseNonscarring / diffuseAnagen effluviumAnagen effluvium

Loss in the growth phaseLoss in the growth phaseLoss in the growth phaseLoss in the growth phaseCausesCauses

Radiation and chemotherapyRadiation and chemotherapyHg, Tl, boric acid, vitamin AHg, Tl, boric acid, vitamin A

Alopecia totalis


Alopecia totalis


Nonscarring diffuseNonscarring diffuseNonscarring diffuseNonscarring diffuseHair shaft abnormalities (trichodystrophies)Hair shaft abnormalities (trichodystrophies)

Trichorrhexis invaginata (bamboo hair)Trichorrhexis invaginata (bamboo hair)Trichorrhexis invaginata (bamboo hair)Trichorrhexis invaginata (bamboo hair)Associated with ichthyosis and Netherton syndromeAssociated with ichthyosis and Netherton syndrome

Wooly hair nevus Wooly hair nevus Trichorrhexis nodosaTrichorrhexis nodosaMonilethrixMonilethrix



Nonscarring focalNonscarring focalNonscarring focalNonscarring focalMost are not congenitalMost are not congenital

Traction alopeciaTraction alopeciaTraction alopeciaTraction alopeciaBraids, trichotollomania, T. capitus, Late 2Braids, trichotollomania, T. capitus, Late 2°° syphyllissyphyllis

Most common congenitalMost common congenitalggAlopecia areataAlopecia areata



Scarring focalScarring focalScarring focal Scarring focal Fibrotic denegration of follicleFibrotic denegration of follicleUsually not congenitalUsually not congenitaly gy gTrauma, scarring, diseaseTrauma, scarring, disease

Burns, trauma, radiation therapy, infections (both primary and Burns, trauma, radiation therapy, infections (both primary and secondary) sarcoidosis SLE malignancysecondary) sarcoidosis SLE malignancysecondary), sarcoidosis, SLE, malignancysecondary), sarcoidosis, SLE, malignancy

Primary disease (rare)Primary disease (rare)Lichen planouplaris LP of the scalpLichen planouplaris LP of the scalpFolliculitis decalvans Folliculitis decalvans –– scarring alopecia with pustules and scarring alopecia with pustules and “clumped hairs”“clumped hairs”Pseudopelade of Brocq (really rare)Pseudopelade of Brocq (really rare)


p q ( y )p q ( y )


Possibly due to anagen phase antibodiesPossibly due to anagen phase antibodiesPossibly due to anagen phase antibodiesPossibly due to anagen phase antibodiesPrevalence is 1.7% lifetimePrevalence is 1.7% lifetimeNo significant preponderance by race orNo significant preponderance by race orNo significant preponderance by race or No significant preponderance by race or gendergenderMost occur at ages 15Most occur at ages 15 –– 29 with many29 with manyMost occur at ages 15 Most occur at ages 15 29 with many 29 with many younger but not many over 40younger but not many over 40Slight association with DMSlight association with DMS g t assoc at o tS g t assoc at o tOften can be traced to stress or disease onsetOften can be traced to stress or disease onset



HistoryHistoryHistoryHistoryHair lossHair lossItching Itching –– may or may not lead to a specific causemay or may not lead to a specific causegg y y py y pScarringScarring

Warrants a check of the entire skin and mucosa for Warrants a check of the entire skin and mucosa for systemic diseasesystemic diseasesystemic diseasesystemic disease

The usual questionsThe usual questionsTimingTimingNew drugs or health productsNew drugs or health productsFamily history both historically Family history both historically

and in the present living situationand in the present living situation


and in the present living situationand in the present living situation

Alopecia areata et alAlopecia areata et alAlopecia areata et.al.Alopecia areata et.al.Physical exam Physical exam yy

Hair loss is visibleHair loss is visiblePull testPull test

Grab Grab ≈ 60 hairs X3 and pull ≈ 60 hairs X3 and pull gentlygentlypp g yg yCount hairs Count hairs -- < 6 telogen< 6 telogen--phase phase hairs should come out > 6 is hairs should come out > 6 is abnormalabnormalTelogen hairs have bulbs without Telogen hairs have bulbs without ggsheaths, anagen hairs have sheaths, anagen hairs have sheathssheaths

Pluck test Pluck test –– same except the hairs same except the hairs are pulled out painfully and swiftlyare pulled out painfully and swiftlyare pulled out painfully and swiftlyare pulled out painfully and swiftlyBoth tests Both tests –– 85 85 –– 90% are in 90% are in anagen phaseanagen phase



Physical examPhysical examPhysical examPhysical examBiopsy for persistent mystifying alopeciaBiopsy for persistent mystifying alopeciaDaily hair countsDaily hair counts > 100 are abnormal except> 100 are abnormal exceptDaily hair counts Daily hair counts -- > 100 are abnormal except > 100 are abnormal except after shampooing (250)after shampooing (250)Alopecia areataAlopecia areata –– broken hairs at the marginsbroken hairs at the marginsAlopecia areata Alopecia areata –– broken hairs at the marginsbroken hairs at the margins

Nails may be pitted or roughNails may be pitted or rough



TreatmentTreatmentTreatmentTreatmentMale pattern baldnessMale pattern baldness

MinoxidilMinoxidil –– topical 1ml to scalptopical 1ml to scalpMinoxidil Minoxidil –– topical 1ml to scalptopical 1ml to scalpBest with vertex alopecia as it prolongs the anagen Best with vertex alopecia as it prolongs the anagen phasephase3030 40% ff ti40% ff ti30 30 –– 40% effective40% effective

Finesteride 5Finesteride 5--αα reductase inhibitorreductase inhibitor1 mg po daily1 mg po dailyg p yg p yPregnant women should not be in the same room as Pregnant women should not be in the same room as these pillsthese pillsTreat for 24 monthsTreat for 24 months


Treat for 24 months Treat for 24 months

Alopecia areata et alAlopecia areata et alAlopecia areata et.al.Alopecia areata et.al.Alopecia areataAlopecia areatapp

TAC injections TAC injections –– 0.1 ml/site (10mg/mL suspension)0.1 ml/site (10mg/mL suspension)Topicals must be potent as many cannot penetrate to the hair Topicals must be potent as many cannot penetrate to the hair bulbbulb

Betamethasone 0.05% has a chanceBetamethasone 0.05% has a chanceOral steroids are effective but hair loss reoccurs as therapy is Oral steroids are effective but hair loss reoccurs as therapy is endedendedAnthralin 0.5 Anthralin 0.5 –– 1% 10 min daily and washed off 1% 10 min daily and washed off

Titrate to 30 min. as titratedTitrate to 30 min. as titratedMinoxidil topicallyMinoxidil topicallyInduction of dermatitis Induction of dermatitis

Diphencyprone Diphencyprone , s, squaric acid quaric acid dibutylester dibutylester Cyclosporine, tacrolimus, dapsoneCyclosporine, tacrolimus, dapsone



Surgical optionsSurgical optionsSurgical optionsSurgical optionsFollicle transplantFollicle transplantScalp flapsScalp flapsp pp pAlopecia reductionAlopecia reduction

Secondary alopecia is treated symptomaticallySecondary alopecia is treated symptomaticallyTraction reduction, fungal treatments, psychotropics, Traction reduction, fungal treatments, psychotropics,

CoveringsCoveringsHair pieces or tattooingHair pieces or tattooing


Follicule TransplantFollicule Transplant


ichthyosisichthyosisichthyosisichthyosisIntroductionIntroduction

Congenital or acquiredCongenital or acquiredFour inherited typesFour inherited types

ichthyosis vulgarisichthyosis vulgarisAppears at pubertyAppears at pubertyMost commonMost common

Epidermolytic hyperkeratosisEpidermolytic hyperkeratosisRed moist tender bullous skin at birthRed moist tender bullous skin at birthRed, moist, tender, bullous skin at birthRed, moist, tender, bullous skin at birth

Lamellar ichthyosisLamellar ichthyosisRear, autosomal recessiveRear, autosomal recessive“Colloidion babies”“Colloidion babies”

XX--linked ichthyosislinked ichthyosisPresent shortly after birthPresent shortly after birthDue to sulfatase deficiency Due to sulfatase deficiency


ichthyosis vulgarisichthyosis vulgarisichthyosis vulgarisichthyosis vulgaris

SymptomsSymptomsSymptomsSymptomsDry scaly hyperkeratinized skinDry scaly hyperkeratinized skinFrequencyFrequencyFrequencyFrequency

Higher in Mexico, China, and UKHigher in Mexico, China, and UKLower in Denmark and ItalyLower in Denmark and Italy

All races affected equally All races affected equally Increased risk of testicular cancerIncreased risk of testicular cancer

Acquired ichthyosis can occur with HIV in Acquired ichthyosis can occur with HIV in IV drug users after TIV drug users after T--cell depletioncell depletion



Eye examEye examEye examEye examCorneal abnormalities especially abrasionCorneal abnormalities especially abrasionEctropionEctropionEctropionEctropionBlephritisBlephritisRetinitis pigmentosaRetinitis pigmentosaRetinitis pigmentosaRetinitis pigmentosaTortuous vesselsTortuous vessels


ichthyosis vulgarisichthyosis vulgarisichthyosis vulgarisichthyosis vulgarisSkin biopsy can differentiateSkin biopsy can differentiatep yp yGenetic testing for the rarer typesGenetic testing for the rarer typesCBCCBCTFTsTFTsAcquired ichthyosisAcquired ichthyosis

Angiotensin converting enzyme and lysozymeAngiotensin converting enzyme and lysozymeChest XChest X--ray (lymphoma, HIV, TB, sarcoid)ray (lymphoma, HIV, TB, sarcoid)

I tI tIn uteroIn uteroU/S for excessive debris, polyhadraminos, footlengthU/S for excessive debris, polyhadraminos, footlengthBiopsyBiopsy


BiopsyBiopsy


TreatmentTreatmentTreatmentTreatmentIsotrenitoin PO 2mg/Kg daily Isotrenitoin PO 2mg/Kg daily –– AdultsAdultsLiarozole 150mg bidLiarozole 150mg bid cytochrome P450cytochrome P450Liarozole 150mg bid Liarozole 150mg bid –– cytochrome P450 cytochrome P450 inhibitorinhibitorUrea topical cream 2 10 and 20%Urea topical cream 2 10 and 20%Urea topical cream 2,10, and 20%Urea topical cream 2,10, and 20%Carboxymethylcellulose 0.5 Carboxymethylcellulose 0.5 –– 1.0%1.0%NN acetylcystine 10% emulsionacetylcystine 10% emulsionNN--acetylcystine 10% emulsionacetylcystine 10% emulsion

Don’t forget antibiotics if bacterial infection Don’t forget antibiotics if bacterial infection


crop upcrop up


Eye careEye careEye careEye carePetrolatum/mineral oil to corneaPetrolatum/mineral oil to corneaEyelid care is importantEyelid care is importantEyelid care is importantEyelid care is importantAmniotic membrane transplant for corneal Amniotic membrane transplant for corneal wound healingwound healing

Follow up with dermatology and Follow up with dermatology and ophthalmology if neededophthalmology if neededSurgery may be needed for Surgery may be needed for scarring or transplantsscarring or transplants


g pg p


Continued careContinued careContinued careContinued careBathing with tar soapBathing with tar soapRemoving surface scalesRemoving surface scalesRemoving surface scalesRemoving surface scalesApplying barrier productsApplying barrier products


Erythropoetic PorphyriaErythropoetic PorphyriaErythropoetic PorphyriaErythropoetic Porphyria

IntroductionIntroductionIntroductionIntroductionInborn error of heme synthesis in the bone Inborn error of heme synthesis in the bone marrowmarrowmarrowmarrow

Autosomal recessiveAutosomal recessivePorphyrins buildup causing cutaneous Porphyrins buildup causing cutaneous p y p gp y p gphotosensitivityphotosensitivity

Port wine urine and skin blisteringPort wine urine and skin blistering



Günther's diseaseGünther's diseaseGünther s disease Günther s disease Very rare Very rare –– less than 200 nationwideless than 200 nationwide

Clinical variability is wideClinical variability is wideClinical variability is wideClinical variability is wideMost patients survive into adulthoodMost patients survive into adulthood

No predilection for:No predilection for:No predilection for:No predilection for:RaceRaceAgeAgeAgeAge

But, most patients are youngerBut, most patients are youngerGenderGender



HistoryHistoryHistoryHistoryCC is blistering of light exposed skinCC is blistering of light exposed skinJaundice at birthJaundice at birth

Physical examPhysical examSkinSkin

Vesicles and bullaeVesicles and bullaeFragilityFragilityHypertrichosisHypertrichosisHypertrichosisHypertrichosis

OralOralReddish teeth that fluoresceReddish teeth that fluoresce



Physical examPhysical examPhysical exam Physical exam UrineUrine

Pink stainingPink stainingPink stainingPink stainingOcularOcular

Blepharitis ectropion conjunctivitisBlepharitis ectropion conjunctivitisBlepharitis, ectropion, conjunctivitisBlepharitis, ectropion, conjunctivitisScleral fissures and pink fluorescenceScleral fissures and pink fluorescenceCorneal scarringCorneal scarringgg

SkeletalSkeletalBones fluoresce pinkBones fluoresce pink

Dave Kotun, NSU PA Program, OrlandoDave Kotun, NSU PA Program, Orlando 5353Bone lossBone lossOsteopenia and acroOsteopenia and acro--osteolysisosteolysis


DDDDDDDDErythropoetic protoporphyriaErythropoetic protoporphyriaPorphyria cutanea tardaPorphyria cutanea tardaPorphyria cutanea tardaPorphyria cutanea tardaPseudoporphyriaPseudoporphyriaVariegate porphyriaVariegate porphyriaVariegate porphyriaVariegate porphyriaXeroderma pigmentosaXeroderma pigmentosa



LabsLabsLabsLabsUrine porphyria and derivativesUrine porphyria and derivativesIncreased uroporphyrin in RBCsIncreased uroporphyrin in RBCsp p yp p yIncreased CoprophyrinIncreased CoprophyrinDecreased uroporphyrin III synthase activityDecreased uroporphyrin III synthase activityFluorescence microscopy of blood and bone marrowFluorescence microscopy of blood and bone marrowCBCCBC

Hemolytic anemiaHemolytic anemiaHemolytic anemiaHemolytic anemia

Hepato and splenomegalyHepato and splenomegaly



Medical careMedical careMedical careMedical careAvoid sunAvoid sun

Sunscreens with ZnOxide or Titanium dioxideSunscreens with ZnOxide or Titanium dioxideSunscreens with ZnOxide or Titanium dioxideSunscreens with ZnOxide or Titanium dioxideSun protective clothingSun protective clothingAvoid trauma to skinAvoid trauma to skin

Oral Oral ββ--carotene slight benefitcarotene slight benefitTransfusionsTransfusionsTransfusionsTransfusionsBone marrow transplantBone marrow transplantOralOral αα--tocopherol and vitamin Ctocopherol and vitamin C


Oral Oral αα tocopherol and vitamin Ctocopherol and vitamin C


ConsultsConsultsConsultsConsultsDermatologyDermatologyOphthalmologistOphthalmologistOphthalmologistOphthalmologistHematologistHematologistSurgeon (splenectomy)Surgeon (splenectomy)Surgeon (splenectomy)Surgeon (splenectomy)Oral surgeonOral surgeon


Congenital NevusCongenital NevusCongenital NevusCongenital Nevus

TypesTypesTypesTypesNevus sebaceousNevus sebaceousHairy nevusHairy nevusHairy nevusHairy nevusCaféCafé--auau--laitlait

All t f bi thAll t f bi thAll present from birthAll present from birthAcquired nevi occur after birth when groups of Acquired nevi occur after birth when groups of

l tl tmelanocytes occurmelanocytes occurCongenital hairy nevus is our focusCongenital hairy nevus is our focus



Congenital nevomelanocytic nevus (CNN)Congenital nevomelanocytic nevus (CNN)Congenital nevomelanocytic nevus (CNN)Congenital nevomelanocytic nevus (CNN)Congenital hairy nevusCongenital hairy nevusCarcinogenic potentialCarcinogenic potentialCarcinogenic potentialCarcinogenic potential

≈ 6≈ 6--8.5% of large/giant nevi have potential for 8.5% of large/giant nevi have potential for cutaneous melanomacutaneous melanoma5% lif ti i k f i CNN5% lif ti i k f i CNN5% lifetime risk for any size CNN5% lifetime risk for any size CNN

IncidenceIncidenceFound in 1% of newbornsFound in 1% of newbornsFound in 1% of newbornsFound in 1% of newborns

Most are smallMost are smallLarge are present in 1 in 20K Large are present in 1 in 20K –– 500K babies500K babies



IncidenceIncidenceIncidenceIncidenceEqual in males and femalesEqual in males and femalesFound in all races but higher in blacksFound in all races but higher in blacksFound in all races but higher in blacksFound in all races but higher in blacksSome rare types have delay in pigment Some rare types have delay in pigment appearanceappearanceappearanceappearance

1 month to 2 years1 month to 2 years


Congenital NevusCongenital NevusCongenital NevusCongenital NevusPhysical examPhysical exam

SizeSizeSmall < 1.5 cmSmall < 1.5 cmMed 1.5 Med 1.5 –– 20 cm20 cmLarge > 20 cmLarge > 20 cmLarge > 20 cmLarge > 20 cm

Bigger than your fistBigger than your fistBordersBordersSurfaceSurfaceShapeShapeColorColorLocationLocationDistributionDistributionAssociated findingsAssociated findings

NF for exampleNF for example



Treatment is usually surgical with the Treatment is usually surgical with the f ll i id tif ll i id tifollowing considerationsfollowing considerations

AestheticsAestheticsL t 6 ldL t 6 ldLarge at 6 mo. oldLarge at 6 mo. oldSmall at adolescenceSmall at adolescenceExcision and reconstructionExcision and reconstructionExcision and reconstructionExcision and reconstructionFollow small ones with Follow small ones with photodocumentationphotodocumentation


photodocumentationphotodocumentation(Try using the copier when possible)(Try using the copier when possible)


Other treatmentOther treatmentOther treatmentOther treatmentPhenol chemical peel with possible additional Phenol chemical peel with possible additional dermabrasiondermabrasiondermabrasiondermabrasionNormal mode ruby laserNormal mode ruby laserPulsed COPulsed CO22 laserlaserPulsed COPulsed CO22 laserlaser


MelanomaMelanomaMelanomaMelanoma

IntroductionIntroductionIntroductionIntroductionNot the most common skin cancer, but the Not the most common skin cancer, but the most deadlymost deadlymost deadlymost deadlyUV light exposure increases riskUV light exposure increases risk

Sun damage is contributorySun damage is contributorySun damage is contributorySun damage is contributoryDevelopment is usually on these areas, but look Development is usually on these areas, but look for the unusual presentationsfor the unusual presentations

Most people have between 10 and 40 moles Most people have between 10 and 40 moles (by age 20)(by age 20)



IncidenceIncidenceIncidenceIncidence1 in 75 people1 in 75 people75% of skin cancer deaths75% of skin cancer deaths75% of skin cancer deaths75% of skin cancer deathsRate is increasing from 1994Rate is increasing from 1994

Rate of increase peaked in the 70’s and the rate ofRate of increase peaked in the 70’s and the rate ofRate of increase peaked in the 70 s and the rate of Rate of increase peaked in the 70 s and the rate of increase is decliningincrease is decliningRate has gone down in womenRate has gone down in womengg


MelanomaMelanomaMelanomaMelanomaRisk factorsRisk factors

Fair skinFair skinSunburn historySunburn historySunny/high elevation climatesSunny/high elevation climatesy gy gMolesMoles

DysplasticDysplasticMore than 50More than 50

Family historyFamily historyImmune compromiseImmune compromiseCarcinogenic exposureCarcinogenic exposureg pg p

ACS says avoid radium, coal tar, creosote, arsenicACS says avoid radium, coal tar, creosote, arsenicXeroderma pigmentosaXeroderma pigmentosa

Rare, geneticRare, genetic


MelanomaMelanomaUnusual locationsUnusual locations

Under a nailUnder a nailUnder a nailUnder a nailMouthMouthUrinary tractUrinary tractUrinary tractUrinary tractVaginaVaginaEyeEyeEyeEye

Don’t forget the amelanocytic melanoma!!Don’t forget the amelanocytic melanoma!!Pl i d k ki d ti t lPl i d k ki d ti t lPlease examine your dark skinned patients alsoPlease examine your dark skinned patients also


MelanomaMelanomaMelanomaMelanomaDiagnosisDiagnosisgg

Screening exam Screening exam Head to toeHead to toe

Biopsy Punch or excisionalBiopsy Punch or excisionalNEVER SHAVENEVER SHAVE

St iSt iStagingStagingThicknessThicknessD hD hDepthDepthSpreadSpread



AA –– asymmetryasymmetryA A asymmetryasymmetryB B –– borderborderCC colorcolorC C –– colorcolor

Dark or changingDark or changingDD diameterdiameterD D –– diameterdiameter

> 6 mm> 6 mmChangesChangesChangesChanges

Scaling, itching, texture change, spreading, Scaling, itching, texture change, spreading, oozing bleedingoozing bleeding


oozing, bleedingoozing, bleeding


StagesStagesStagesStages0 0 –– Melanoma in situMelanoma in situII IV Lower numbers are less invasive andIV Lower numbers are less invasive andI I –– IV Lower numbers are less invasive and IV Lower numbers are less invasive and more importantly have better more importantly have better survival/recovery ratessurvival/recovery ratessurvival/recovery ratessurvival/recovery rates

Simple surgeries work well for early stage or thin Simple surgeries work well for early stage or thin lesionslesions



Treatment optionsTreatment optionsTreatment optionsTreatment optionsSurgerySurgeryChemotherapyChemotherapyChemotherapyChemotherapyRadiation therapyRadiation therapyImmunotherapyImmunotherapyImmunotherapyImmunotherapy

Biological therapyBiological therapySynthetic compound called CPSynthetic compound called CP 31398 helped31398 helpedSynthetic compound called CPSynthetic compound called CP--31398 helped 31398 helped stabilize damage in the tumorstabilize damage in the tumor--suppressing p53 suppressing p53 gene (from AAPA’s Medical Watch)gene (from AAPA’s Medical Watch)



Therapy in trialTherapy in trialTherapy in trialTherapy in trialChemoimmunotherapyChemoimmunotherapyGene therapyGene therapyGene therapyGene therapy

ReplacementReplacementSplicingSplicingSplicingSplicing

Targeted anti Targeted anti –– growth or proliferation therapygrowth or proliferation therapyVaccineVaccineVaccineVaccine



PreventionPreventionPreventionPreventionAvoid sun from 1000 Avoid sun from 1000 –– 16001600Always wear sunscreenAlways wear sunscreenAlways wear sunscreenAlways wear sunscreenProtective clothingProtective clothingAvoid tan acceleratorsAvoid tan accelerators

Tanning bedsTanning bedsLotionsLotions

Know sun sensitizing medsKnow sun sensitizing medsRegular skin checks by you and your PARegular skin checks by you and your PA


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ReferencesReferencesReferencesReferencesHall HI et al. Update on the incidence and mortality from melanoma in the United States. Hall HI et al. Update on the incidence and mortality from melanoma in the United States. J Am J Am Acad DermatolAcad Dermatol 1999 40 351999 40 35--42.42.Mayo Cllinic Staff Paper, Mayo Foundation for Medical Education and Research (MFMER), June Mayo Cllinic Staff Paper, Mayo Foundation for Medical Education and Research (MFMER), June 1, 20071, 2007The Merck Manuals Online Medical Library, The Merck Manuals Online Medical Library, Alopecia, Nov, 2005.Alopecia, Nov, 2005.Bolduc, C., Lui, H., & Shapiro, J., 2006. Bolduc, C., Lui, H., & Shapiro, J., 2006. Alopecia Areatai Alopecia Areatai EE--Medicine Online.Medicine Online.Gomuwka P 2006Gomuwka P 2006 Congenital Hairy NeviCongenital Hairy Nevi EE--Medicine Online Mar 10 2006Medicine Online Mar 10 2006Gomuwka, P, 2006. Gomuwka, P, 2006. Congenital Hairy Nevi, Congenital Hairy Nevi, EE Medicine Online. Mar 10, 2006Medicine Online. Mar 10, 2006Lehrer, M. S. Nevus review provided by VeriMed Healthcare Network., Oct. 16, 2006Lehrer, M. S. Nevus review provided by VeriMed Healthcare Network., Oct. 16, 2006Hebel, J. L., PohHebel, J. L., Poh--Fitzpatrick, M. B., 2006, Fitzpatrick, M. B., 2006, Erythropoietic Porphyria,Erythropoietic Porphyria, EE--Medicine Online, Oct. 19, Medicine Online, Oct. 19, 20062006Goins, K., 2006, Goins, K., 2006, Ichthyosis, Ichthyosis, EE--Medicine Online, 2006 update.Medicine Online, 2006 update.Intillehealth com Information Sheet Reviewed by Harvard Medical School March 24 2007Intillehealth com Information Sheet Reviewed by Harvard Medical School March 24 2007Intillehealth.com Information Sheet, Reviewed by Harvard Medical School, March 24, 2007 Intillehealth.com Information Sheet, Reviewed by Harvard Medical School, March 24, 2007 U.S. National Library of Medicine & National Institutes of Health, U.S. National Library of Medicine & National Institutes of Health, NeurofibromatosisNeurofibromatosis, Medline Plus, , Medline Plus, 23 September 2007 23 September 2007 Kam, J. R., Helm, T. N. Kam, J. R., Helm, T. N. Neurofibromatosis, Neurofibromatosis, EE--Medicine Online, Jan 2, 2007.Medicine Online, Jan 2, 2007.Hann, SHann, S--K, K, VitiligoVitiligo, E, E--Medicine Online, 2006.Medicine Online, 2006.A i O t thi C ll f D t l 2007A i O t thi C ll f D t l 2007 D t l i Di D t b VitiliD t l i Di D t b VitiliAmerican Osteopathic College of Dermatology, 2007. American Osteopathic College of Dermatology, 2007. Dermatologic Disease Database, VitiligoDermatologic Disease Database, Vitiligo, , 2007.2007.American Academy of Physician Assistants, American Academy of Physician Assistants, Medical Watch, Medical Watch, December 10, 2007December 10, 2007Gary M. White & Neil H. CoxDiseases of the Skin, from Gary M. White & Neil H. CoxDiseases of the Skin, from www.merckmedicus.com/.../whitewww.merckmedicus.com/.../white--chch--028028--s007.htms007.htm


f a p a 2007 congenital dermatological problems

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