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D24 Dermatology
Heritable Disorders Toronto Notes 2019 Neurofibromatosis (Type I; von Recklinghausen’s Disease)
Clinical Presentation
• diagnosticcriteriaincludes2ormoreofthefollowing:
1. more than 5 café-au-lait patches >1.5 cm in an adult or more than 5 café-au-lait macules >0.5 cm in
a child <5 yr
2. axillary or inguinal freckling
3. iris hamartomas (Lisch nodules)
4. optic gliomas
5. neurofibromas
6. distinctive bony lesion (sphenoid wing dysplasia or thinning of long bone cortex)
7. first degree relative with neurofibromatosis Type 1
• associatedwithpheochromocytoma,astrocytoma,bilateralacousticneuromas,bonecysts,scoliosis, precocious puberty, developmental delay, and renal artery stenosis
• skinlesionslessprominentinneurofibromatosisTypeII(seePediatrics,P77)
Pathophysiology
• autosomaldominantdisorderwithexcessiveandabnormalproliferationofneuralcrestelements (Schwann cells, melanocytes), high incidence of spontaneous mutation
• linkedtoabsenceofneurofibromin(atumoursuppressorgene)
Epidemiology
• incidence1:3,000
Investigations
• Wood’slamptodetectcafé-au-laitmaculesinpatientswithpaleskin
Management
• refertoorthopedics,ophthalmology,plastics,andpsychology • follow-upannuallyforbraintumours(e.g.astrocytoma)
• excisesuspiciousorpainfullesions
• seePediatrics,P77
Vitiligo
Clinical Presentation
• primarypigmentarydisordercharacterizedbydepigmentation
• acquireddestructionofmelanocytescharacterizedbysharplymarginatedwhitepatches • associatedwithstreaksofdepigmentedhair,chorioretinitis
• sites:extensorsurfacesandperiorificialareas(mouth,eyes,anus,genitalia)
• Koebnerphenomenon,maybeprecipitatedbytrauma
Pathophysiology
• acquiredautoimmunedestructionofmelanocytes
Epidemiology
• 1%incidence,polygenic
• 30%withpositivefamilyhistory
Investigations
• ruleoutassociatedautoimmunediseases:thyroiddisease,perniciousanemia,Addison’sdisease,TypeI DM
• Wood’slamptodetectlesions:illuminatesUVlightontoskintodetectamelanosis(porcelainwhite discolouration)
Management
• sunavoidanceandprotection
• topicalcalcineurininhibitor(e.g.tacrolimus,pimecrolimus)ortopicalcorticosteroids
• PUVA or NB-UVB
• make-up
• “bleaching”normalpigmentedareas(i.e.monobenzyletherofhydroquinone20%)ifwidespreadlossof
pigmentation
Interventions for Vitiligo
Cochrane Database Syst Rev 2015;2:CD003263 Purpose: To assess the effects of existing interventions used in the management of vitiligo. Study: Systematic review of RCTs assessing the effects of vitiligo treatments (topical treatments, light therapies, oral treatments, surgical methods). Primary outcomes were quality of life and >75% re-pigmentation adverse effects.
Results: Ninety-six RCTs with 4,512 participants were deemed eligible, of which only 25 reported
on the primary outcomes and were finally included. Re-pigmentation was better with combination therapy (calcipotriol plus PUVA, than PUVA alone, hydrocortisone-17-butyrate plus excimer laser vs. excimer laser alone; oral minipulse of prednisolone (OMP) plus narrowband UVB (NB-UVB) vs. OMP alone; azathioprine with PUVA vs. PUVA alone; 8-methoxypsoralen (8-MOP) plus sunlight versus psoralen). A non-significant increase in proportion of participants with >75% re-pigmentation was noted in favour of NB-UVB compared to PUVA. Compared to PUVA, the NV-UVB group reported lower incidences of nausea and erythema, but not itching. Conclusions: Some studies support existing therapies for vitiligo management, but follow-up is needed to assess permanence of re-pigmentation and higher quality RCTs need to be conducted.