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Dermatology > Disorders of Hypopigmentation (Leukodermas) > Flashcards

Disorders of Hypopigmentation (Leukodermas) Flashcards

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Dermatology Board Prep flashcards
1
Q

Most significant ocular abnormality assoc with vitiligo

A

Uveitis

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2
Q

Vogt-Koyanagi-Harada Syndrome

A

Autoimmune disorder characterized by:

  • Uveitis
  • Aseptic meningitis
  • Otic involvement
  • Poliosis
  • Vitiligo
  • Alopecia
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3
Q

Alezzandrini Syndrome

A

Poliosis, facial vitiligo, deafness, all occurring on the same side as unilateral visual changes

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4
Q

Most common type of childhood vitiligo

A

Vitiligo vulgaris; increased segmental vitiligo seen in children compared to adults

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5
Q

Treatment options for vitiligo

A

Sunscreens, cosmetics, NB-UVB (1st choice for generalized vitiligo), PUVA, topical corticosteroids/immunosuppressants, topical calcipotriol, surgical tx, micropigmentation (tattooing), excimer laser, depigmentation

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6
Q

Piebaldism

A

Genetic Mutation: cKIT (autosomal dominant)
Features: Leukoderma (favors central anterior trunk, mid-extremities, central forehead, midfrontal portion of scalp w/ resultant white forelock)

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7
Q

Waardenburg Syndrome (Features)

A

-Achromia of hair and/or skin; congenital deafness, partial/total herochromia irides, medial eyebrow hyperplasia (synophrys), broad nasal root, dystopia canthorum

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8
Q

Types of Waardenburg Synrdome

A

WS1 (AD): PAX3; poliosis (white forelock), craniofacial abnormalities, dystopia canthorum
WS2 (AD): MITF, SLUG; deafness, “auditory-pigmentary”
WS3 (AD/AR): PAX3; white forelock, craniofacial abnormalities, dystopia canthorum; axial limb defects (hypoplasia, syndactyly)
WS4 (AD): SOX10, EDN3, EDNRB; white forelock, craniofacial abnormalities, dystopia canthorum, Hirschsprung disease

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9
Q

Oculocutaneous Albinism (inc types)

A

OCA 1A/1B: 40% of OCA; TYR gene (a=absent; b= reduced activity); strong predisposition to skin cancer
OCA1TS: temp sensitive mutant; normal synthesis in cool body parts (arms/legs)
OCA 2: 50% of OCA; P gene; reduction in eumelanin but less effect on pheomelanin; nevi, light brown hair, nystagmus; affects 1% Prader-Willi or Angelman Syndrome
OCA 3: “rufous”; TYRP1; skin mahogany brown with slight reddish hue
OCA 4: SLC45A2; most common OCA in Japan

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10
Q

Ocular Albinism

A

Gene: OA1; X-linked recessive; substantial reduction in visual acuity

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11
Q

Hermansky-Pudlak Syndrome

A

Gene: HPS1 etc; AR; predominant Puerto Ricans
Features: pigmentary dilution; nystagmus; decreased visual acuity; bleeding tendency (plts missing granules); tooth extraction; childbirth caution; interstitial pulmonary fibrosis; granulomatous colitis (HPS1, HPS4); lifespan 30-50yrs

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12
Q

Griscelli Syndrome

A

Gene:
GS1 Myosin Va…..neurologic impairment
GS2 Rab27A…..immune and heme abn (cant release lysosom granules)
GS3 MLPH….least severe; no immune/neuro
Features: pigmentary dilution; silvery gray hair; no lysosomal granules on smear (CH does); poor prognosis (die w/in 1st-2nd decade)

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13
Q

Elejalde Syndrome

A

Gene: (AR)
Features: silvery gray hair; severe CNS dysfxn; forme fruste of GS1?

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14
Q

Chediak-Higashi Syndrome

A

Gene: (AR) LYST
Features: OCA with silvery gray hair, photophobia, nystagumus, ocular hypopigmentation, BLEEDING DIATHESIS (decreased plt dense granules), progressive neuro dysfxn, severe immunodeficiency
Childhood CHS (severe; “accelerated phase” w fever, anemia, neutropenia, LP syndrome; fatal unless BM Tx
Adult CHS: milder clinical
Hallmark: Giant peroxidase-+ lysosomal granules in netrophils
Histologic Hallmark: giant melanosomes w/in melanocytes

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15
Q

Tuberous Sclerosis

A

Gene: (AD) TSC1 (hamartin) and TSC2 (tuberin)
Features: hypomelanotic “ash leaf” macules, adenoma sebaceoum, seizures, MR

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16
Q

Hypomelanosis of Ito

A

-streaks/whirls/hypopigmentation along Blashko’s lines on trunks/limbs; 30% w/ CNS/eye/MSK and/or heart defects

17
Q

Causes of Nutritional Hypomelanosis

A

Kwashiorkor; copper or selenium deficiency; Vit B12 def, folic acid dev, or pellagra

18
Q

Cause of Pityriasis Versicolor

A

Malassezia (produces azelaic acid which is comp inhib of tyrosinase)

19
Q

Chemical/Pharmacologic Hypomelanosis

A 
Phenols/Catechols
Sulfhydryls
Hydroquinone
Topical/IL Corticosteroids
Gleevec (imatinib)
20
Q

Causes of Acquired Diffuse Hypopigmentation

A

Hypothyroidism; Hypopituitarism
Hypogonadism
Selenium/Copper Def
Chronic Hemodialysis (Skin/hair)

21
Q

Bier’s spots

A

small irregular apparently hypopigmented macules (usually arms/ legs of young adults); reticulated appearance w/ surrounding skin erythematous; vascular anomaly (vasoconstriction in pale areas and venodilation in eryth skin)

22
Q

Woronoff’s Ring

A

blanched halo surrounding psoriatic lesions after phototherapy or topical tx

23
Q

Nevus anemicus

A

Unilateral pale area w/ irregular outline; caused by decrease blood flow through capillaries in dermal papillae (localized hypersensitivity of blood vessels to catecholamines)

24
Q

Vasospastic macules

A

pale macules seen on extremities due to localied vasoconstriction (young women)

25
Q

Idiopathic guttate hypomelanosis

A

common, asymptomatic, increase with age

26
Q

Leukoderma Punctatum

A

multiple punctiform hypopigmented achromic spots after several months of PUVA (and UVB)

27
Q

Vagabond’s Leukomelanoderma

A

due to dietary def, lack of cleanliness, heavy infestation w/ Pediculus humanus; light brown hyperpigm at shoulder/waist; neck and back dotted with depigmented macules

28
Q

Progressive Macular Hypomelanosis of the Trunk

A

young women; tropical climate; poorly defined nummular non-scaly hypopigmented macules and patches

29
Q

Hair Hypomelanosis

A

poliosis (circumscribed area of white hair); canities (gray hair); occurs in aging and due to defective maintenance of melanocyte stem cells
PREMATURE: assoc with pernicious anemia, hyper/hypothyroidism, osteopenia, progeria, pangeria

Dermatology (17 decks)

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