Skin colour disorders Dan Flashcards
What is Laugier-Hunziker Syndrome?
Rare acquired lentiginosis syndrome onset in adulthood, benign cause unknown
Macular pigmentation of lips and buccal mucosa, palms and soles
Longitudinal black melanonychia
No systemic associations, good prognosis
DD for Peutz-Jeghers
What is Fanconi’s anaemia?
rare AR disease
M>F,
onset at 4-10 years can present to haem or derm
generalised mottled dyspigmentation of skin w/ CALMs and depigmented raindrop macules
mucosa spared
dysmorphism may be mild includes triangular facies, microcephaly, aplasia of thumbs or radii, cardiac or renal malformation
develop hypoplastic anaemia, low plts and low neuts
acute leukaemia risk - poor prognosis
What is Cronkhite-Canada syndrome?
rare condition of unknown aetiology middle aged, often japanese twice as common in men malabsorption w/ abdo pain and diarrhoea lentigines on limbs and face and can be hyerpigmentation on acral areas or generalised nail dystrophy alopecia - patchy then total Investigate and treat malabsorption
What is ochronosis?
Pigmentation of the skin, bone and cartilage that is ochre-coloured (yellow) under microsocope but blue-black to the naked eye
Caused by AR alkaptonuria or exogenous causes;- oral quinine or quinacrine- topical hydroxyquinone or phenol
Alkaptonuria causes;
back and joint pain
pigmented sclerae and skin
black sweat and cerumen, urine turns black on standing
athersclerosis
SOB due to resp tract deposits
Test urinary homogentisic acid
Rx low protein diet vitamin C
supportive Rx of complications
What are the causes of congenital depigmentation/ hypopigmentation?
Generalised: • Oculocutaneous albinism (OCA) - Hermansky-Pudlak - Chediak-Higashi - Cross Syndrome • Albinoidism • Albinism-deafness syndrome • Griscelli syndrome and Elejalde syndrome • Menke’s disease • PKU • Homocystinuria • Histidineamia • Ectodermal dysplasia • Sialic acid storage disease • Apert’s syndrome • Vitiligo (rarely generalized) Macular: • TSC (ash-leaf/hypopigmented macules) • Piebaldism • Waardenburg’s syndrome • congenital vitiligo • Dyschromic amyloidosis (guttate leukoderma) • Naevus depigmentosus • Naevus aneamicus (vasc not pigment) Blaschkoid/Linear: • Linear and whorled hypopigmenation • Hypomelanosis of Ito • Focal dermal hypoplasia • segmental vitiligo • Segmental Ash-leaf/hypomelanotic macule • Female Menkes carrier • Conradi Hunermann • epidermal naevus • Pigmentary demarcation lines (type C)
What are the causes of localised (scalp) poliosis?
Idiopathic Inflammatory or autoimmune • Vitiligo • Halo nevus or melanoma • Alopecia areata • Postinflammatory (e.g. DLE) • Post-traumatic • Vogt-Koyangi-Harada (eye) syndrome Inherited • TSC hypomelanotic macule • Piebaldism (midline frontal) • Waardenburg syndrome • Isolated white forelock Nevoid • Associated with nevus comedonicus • Angora hair nevus • Scalp heterochromia secondary to mosaicism
What is hypomelanosis of Ito?
Neurocutaneous disorder due to mosaicism of pigment cells causing hypopigmentation in streaks and whorls in Blaschko’s lines
- uni or bilateral, trunk and limbs, assymetrical, spares acral surfaces and scalp
Starts as small macules in early infancy and spreads
30-50% have associated abnormalities
- CNS (neurocuatneous) + ITO
CNS (Seizures, mental or motor retardation, microcephaly, hypotonia, hyperkinesias, deafness, ataxia)
I = eyes (Ptosis, non-closure of upper lid, symblepharon, dacryostenosis, strabismus, nystagmus, corneal opacification, cataracts, myopia, amblyopia, micropathalmia, iridal heterochromia, scleral melanosis, patchy hypopigmented fundi)
T = teeth (dental enamel changes)
O = osteo (bones) (Short stature, pectus carinatum, scoliosis, polydactyly, clinodactyly, asymmetry of limb & face) Geentic counselling, camouflage
What are the associations of vitiligo?
'Type 2 TRAMP' T2DM Thyroid Dx (hyper/Hypo) 25% RA Alopecia areata, Addison's Dx Morphoea or Lichen sclerosus Pernicious anaemia
V. rare;
APECED syndrome
What are the risk factors for progressive vitiligo?
Non-segmental vitiligo
Mucosal involvement
Family Hx
Koebnerisation
What are the good prognostic markers for Rx response in vitiligo?
Younger patients
Recent onset disease
Darker skin types
Lesions on face, neck, and trunk
What are criteria for surgical Rx of vitiligo?
stable vitiligo for at least six months unsatisfactory response to medical rx absence of Keobnerisation no tendency to scar/ keloid age > 12y positive mini-grafting test (small punch grafts 1-2mm taken from uninvolved skin are implanted within acrhomic areas separted from each other by 5-8mm)
What is the aetiology of vitiligo?
complex multifactorial not fully understood
likely genetic and environmental factors
3 current theories;
1. Autoimmune disease (assoc w other AIDxs)
2. Neurogenic hypothesis (toxins released from skin nerve endings inhibit and destroy melanocytes)
3. Self-destruct theory of Lerner - melanocytes cannot metabolise a toxic melanin precursor so self-destruct
What is the classification and clinical types of vitiligo?
Classification;
Localized;
- Focal
- Segmental - 10% of cases but 30% in kids, 50% in trigemminal area, 50% have poliosis; stable, AIDx unlikely
- Mucoasal (genital)
Generalized;
- Vulgaris (most common; scattered patches that are widely distributed)
- Acrofacial
- Universal - >80% skin, rare, high AIDx assoc
- Mixed e.g. acrofacial+vulgaris and/or segmental
Clinical types;
Classical - milk white, convex border, expands centrifugaly
Ponctue - confetti like
Inflammatory - raised, erythematous border
Blue - vitiligo in area of post inflam hyperpigmentation (isotopic response)
Trichrome - Vitiligo/hypopigmented zone/normal skin
Quadrichrome - as tricrome + dark brown perifollicular in vitiligo areas which are repigmenting
Pentachrome - vitiligo, normal skin and 3 intermediete shades of brown reproted in type 5 skin
What are the types of melasma?
Types - Centrofacial (most common) (forehead, cheeks, nose, upper lip – sparing philtrum, and chin) - Malar (cheeks and nose) - Mandibular (along jawline) Overlap of these is most common
What is vitiligo treatment ladder?
General Sunscreen very important Camouflage - cosmetics, fake tans Address psychosocial issues Specific Potent TCS 1st line Topical tacro 1st line in kids and good for adults, can also use pimecrolimus e.g kids UVB if failed topicals or >15% BSA; start 50 mJ/cm2 with 10-20% increments @ 2-3 x weekly until sufficient erythema is achieved within lesions and stay in that dose.Can add oral Vit E for better effectUVB + afamelanotide 16mg S/C for better effect esp in SPT 4-6 (2015 paper-remember!) 308nm Excimer laser +/- TCS or TCNI Topical or systemic PUVA (5MOP 1st line but often not available, 8MOP 2nd line but usually used) 2/3 line calcipotriol - adjunt to TCS Surgery - Blister grafting - punch grafting - split skin grafting - melanocyte suspension technique Depigmentation - if extensive unresponsive disease - Monobenzyl ether of hydroquinone (MBEH) 20% cream, up to 40% for stubborn areas - QS Ruby or Alexandrite laser
What are the causes of acquired depigmentation/ hypopigmentation?
Generalised/any • Vitiligo (rarely generalized) • Chemical leukoderma • Physical trauma, XRT • Post inflammatory hypopigmentation - eczema, Pso, LP, all other primary dermatoses listed here can cause PIH • Addision's Dx • Hyperthyroidism • Morphoea • Sarcoidosis • Pernicious anaemia • Kwashiokor or other nutritional deficiency • Nephrosis • Melanoma induced leucoderma • Onchocersiasis (shins) • Syphylis, Yaws, Pinta Macular: • TSC (ash-leaf/hypopigmented macules) • Vitiligo • Pityriasis alba • Halo naevus or melanoma • Chemical leukoderma • hypopigmented MF • Pityriasis versicolor • Idiopathic guttate hypomelanosis • Progressive macular hypomelanosis • Biers psots + naevus anameicus (vascular not pigment) • Leprosy • Scleroderma (salt + pepper) • Lichen sclerosus • DLE Blaschkoid/Linear: • segmental vitiligo • Segmental Ash-leaf/hypomelanotic macule Confetti leukoderma • vitiligo • leukoderma punctatum (see below) • tuberous sclerosis • chemical leukoderma • tinea versicolor • Idiopathic guttate hypomelanosis • Photoaging • Onchocerciasis • Perifollicular hypopigmentation may be observed in vitiligo, tinea versicolor, Grover's disease, and Darier's disease
Causes of chemical leukoderma
Phenols inc Hydroquinone, MBEH, PPD, P-tertiery butyl phenol Azo dyes Ammoniated mercury Arsenic Azelaic acid fluorinated TCS Imatinib Sulphadryl (thiol) group chemicals
What is salt and pepper dyspigmentation? In what conditons does it occur?
Mainly seen in dark skin types
poorly demarcated depigmented areas with perifollicular retained pigment.
Looks a little like repigmenting vitiligo esp trichrome type
ypical of scleroderma esp chest, upper back, scalp Also seen in Scleromyxedema or Overlap syndrome
What is Ceruloderma?
what are the types?
means dermal pigmentation
Naevus of Ito, Ota, Mongolion spots, dermal melasma, Acquired Bilateral Naevus of Ota-like Macules (ABNOM) = Hori’s naevus
What are the associations of Mongolion blue spots?
Most benign w/ no associations and fade w/ time
Rarely;
Assoc w/ vascular or pigmented birthmarks;
CALMs
CMTC
NICH
Sturge-Weber
Klippel-Trenaunay
Phakomatosis pigmentovascularis - w/ naevus flammeus +/- naevus spillus and/or naevus anaemicus
Large, dark Mongolion spots may be assoc w/ inborn error of metabolism e.g; GM1 gangliosidosis mucopolysaccharidosis type 1 (Hurler's) mucopolysaccharidosis type 2 (Hunter's) Mucolipidosis Niemann-Pick Mannosidosis
What are the associations of melasma?
what are the triggers?
Associations
90% women
More common in darker skin types - asian, hispanic and Afro-caribbeans
- hypo or hyper thyroidism - autoimmune types
- Lichen sclerosus (possibly)
Triggers + Exacerbating factors
- Pregnancy
- combined OCP
- Sun/UV and sometimes visible light (esp dark skin types)
- Phenytoin
- Other phototoxic meds
What are the DDs of melasma?
Pigment demarcation lines Familial periorbital hyperpigmentation PIH Acanthosis nigricans Pigmented LP Actinic LP Hori's naevus (ABNOM) Ashy dermatosis Riehl's melanosis Drug-induced hyperpigmentation Solar lentigo, LM
How is severity of melasma objectively assessed?
skin assessed with modified MASI score out of 24 =
sum of score for Area (0-6) x score for Darkness (0-4) for each of 4 regions – forehead, chin, left malar, right malar Area scores (same as PASI); 0 not involved 1 under 10% 2 10-29% 3 30-49% 4 50-69% 5 70-89% 6 over 90% Darkness scores; 0 not involved 1 slight 2 mild 3 marked 4 maximal
Should also assess psychological impact of disease
can use normal DLQI or MelasQol tool
T/F
melasma respects the boundary of the orbital rim and rarely extends below mandible
T
A pt using long term hydroquinone for melasma complains of worsening darkening of skin. After checking compliance and excluding sun exposure you take a biopsy whcih shows yellow-brown banana-shaped deposits in the dermis. What is your management?
Ochronosis due to accumulation of homogentisic acid in connective tissues
Rx – stop hydroquinone.
Can resolve slowly or can Rx w/ topical, peels, dermabrasian or laser (CO2, QS NdYAG or combined QS NdYAG + fractionated CO2) - caution using laser on melasma pt
What is initial work up and management for melasma?
Confirm diagnosis - clinical +/- biopsy if needed
Wood’s lamp exam - epidermal pigmentation more likely to respond to topical treatment
Histo – increased epidermal + dermal melanin, damage to BM, solar elastosis, increased dermal mast cells, increased vascularity
Baseline photos - consent etc
assess severity - mMASI + MelasQoL tools - screen for suicidality if depressed
Verbal and written information
Investigations
- TFTs and thyroid antibodies
- Exclude pregnancy - BetaHCG
- Change OCP to progesterone only or stop pill
- Change other meds if indicated (if phototoxic)
- Strict sun protection (hats, clothing, broad spectrum physical blocking sunscreen at least SPF50 containing physical blocker, sun avoidance)
- Types 4-6 skin/resistant cases should reduce visible light exposure with an iron oxide sunscreen
- computer screen UV covers and window tints
- Assess VitD levels and supplement if necessary due to sun avoidance
- Cosmetic camouflage make-up e.g. Dermablend
- Need to use topical agent + sunscreen for 8-12 wks to see if effective;
First line: TTC = triple therapy combination;
Modified Kligman’s: 4-5% hydroquinone, 0.05-0.1% tretinoin, in 1% HCT cream - nocte, explain AEs
What are second and third line options for melasma?
If no success can increase conc of hydroquinone and or tretinoin in triple cream or can add;
- 1-2% Kojic acid
- 0.5-2% Ascorbic acid
- 1-2% Sal acid
or can change tretinoin to Adapalene (Differin cream/gel 0.1%)
Second line:
- Azelaic acid 20% (azclear), 15% cream (financea) (studies done on 20%) BD
- can use 20% azelaic acid + 0.05% tretinoin or 0.1% adapalene (adap less irritating)
- Glycolic acid peels 50-70% on alternate weeks x8 peels.
- Oral tranexamic acid 250mg bd for 3-6mths
– SFX: GI upset, back paint, hypomenorrhea/menstrual irregularities, headache; NB: contraindicated in individuals with hx of thromboembolic disease/thrombophilia or severe renal or liver disease
Third Line:
- Topical Ascorbic acid up to 5% used as adjunct as doesn’t work well as monotherapy. Additive effect w/ topical soy or licorice extracts
- Jessner’s solution peels
- Salicylic acid peel 20-30% fortnightly
- TCA peel 10-20% (more irritating than GA)
- IPL – use w/ care in cauc/Asians type 1-3 skin on low setting w/ topical + sunprotection
- Laser (sub-threshold QS 1064nm, QS ruby 694nm, QS alexandrite 755nm or nonablative 1550-nm fractional Erbium glass, fractional 1927nm) – need to balance risk of PIH and high risk of recurrence
- Vascular laser for pts who have vasc component
Caution with lasers - need thorough priming and strict sun protection. Full informed consent
T/F
Halo naevi are not seen in vitiligo
F
Can be part of vitiligo
