Bafl Exam 2: Disorders Of Hyperpigmentation

Front 1

Bank robbers differential?

Back 1

Naegeli-Franceschetti-Jadassohn

Dermatopathia Pigmentosa REticularis

Dyskeratosis Congenita

Kindler Syndrome

Ecodermal dysplasias

Immigration Delay Disease

Front 2

Increased expression of what is thought to be involved in the pathogenesis of melasma.

Back 2

c-kit and stem cell factors

Front 3

3 patterns of melasma include:

What are the melanocytes doing?

Back 3

Centrofacial (MC)

Malar

Mandibular

Hyperfunctional melanocytes produce increased pigment in response to UV

Front 4

MOA of hydroquinone? Too much hydroquinone?

Back 4

acts as a competitive inhibitor for tyrosinase

OCHRONOSIS

Front 5

MOA of azelaic acid?

Back 5

weak inhibitor of tyrosinase

Front 6

How does erythema dyschromicum perstans present?

Back 6

MC in skin type III, IV, see ashy gray macules and patches on neck, trunk and extremities in a symmetric distribution

Front 7

Which allele predominates in Hispanic patients with erythema dyschromicum perstans?

Back 7

HLA-DR4

Front 8

Back 8

erythema dyschromicum perstans

Front 9

This area is nearly always involved in patients with lichen planus pigmentosus...

Back 9

preauricular area

Front 10

Back 10

lichen planus pigmentosus-- variant of lichen planus commonly described in patients from India

Front 11

Which subset of cutaneous amyloidosis?

Back 11

Macular amyloidosis-- itchy brown, rippled macules on inter-scapular region of the back

** Lichen amyloidosis is on the bilateral shins, Nodular amyloidosis is on the acral areas

Front 12

Treatment for cutaneous amyloidosis? Categories of amyloidosis?

Back 12

amyloids are proteins that have B pleated sheets (so insoluble) --> deposit in organs or tissue, disrupting normal function

**macular amyloidosis-- interscapular, oncostatin M receptor

** lichen amyloidosis-- bilateral shins

** nodular amyloidosis-- acral areas

TX: antihistamines, TCS, ILK, UVB

Front 13

Hydroxychloroquine/chloroquine hyperpigmentation manifests how?

Back 13

gray to blue-black pigment, pretibial

Front 14

Quinacrine hyperpigmentation manifests how?

Back 14

diffuse yellow-brown discoloration

Front 15

Bleomycin is used to treat lymphoma and testicular cancer. What are the cutaneous manifestations of drug induced hyperpigmentation?

Back 15

sclerodermoid change, flagellate bands, transverse melanonychia, raynauds with digital ulceration

Front 16

This serpegenious hyperpigmentation is associated with which antimetabolite pyrimidine analog?

Back 16

5-FU

Treats butts and tits

Front 17

If you suspect argyria and are unable to visualize the granules, what is an excellent confirmatory test?

Back 17

Darkfield microscopy

Front 18

Where are the granules located in histopathological specimens of argyria?

Back 18

silver granules in the basement membrane, also look at the eccrine glands

Front 19

Patient has AIDS...

Back 19

Zidovudine discoloration

Front 20

Stages of minocycline hyperpigmentation? What stains are positive?

Back 20

I: blue gray discoloration locatlized to scars, positive for Perls

II: blue gray macules on anterior shins, positive for Perls and Fontana Masson

III: diffuse muddy brown discoloration in sun exposed areas, positive for Fontana Masson

IV: blue gray discoloration in the intrathorax

Front 21

What patient populations are at a greater risk for minicycline pigment deposition?

Back 21

patients with pemphigus and pemphigoid

Front 22

Which antihypertensive agents can cause hyperpigmentation?

Back 22

HCTZ- lichenoid

Diltiazem- photodistributed

Front 23

What is a unique feature of diltiazem hyperpigmentation?

Back 23

Perifollicular accentuation

Front 24

What self tanning agent is taken orally and can cause retinal toxicity?

Back 24

cantaxanthin... also associated with liver damage. And it can turn your poop red. Not worth it.

Front 25

bad tan lines? subtypes?

Back 25

NO! Pigmentary demarcation lines. Normal variants, MC in black skin (70% have 1+)

A) vertical lines on anterlateral portion of arm

B) curbed line onposteromedial thigh, preggos

C) vertical band on mid chest

D) paraspinal

E) bilateral chest

Danielle has these!

Front 26

DX?

Back 26

Prurigo pigmentosa- sudden onset of erythematous papules or vesicles that leave reticulate hyperpigmentation, more common in Japanese

responds to minocycline

Front 27

What is atrophoderma of pasini and pierini?

Back 27

brown to blue sharply demarcated depressed patches on lumbosacral region, chest, arms, abdomen in young adults

self limited... after 10-20 years

Front 28

possible association?

Back 28

Atrophoderma of Pasini and Pierini- possibly associated with Borrelia**

May also have co-occurance wtih morphea and LSA **

Front 29

What is the linear subtype of atrophoderma of Pasini and Pierini?

Back 29

Linear Atrophoderma of Moulin

Front 30

Major features of X-Linked Reticulate Pigmentary Disorder?

Back 30

MEN AND WOMEN ARE DIFFERENT!!!

Men- generalized hyperpigmentation, recurrent infections, FTT, seizures, hemiplegia, reflux, premature death

Women- reticulated hyperpigmentation in lines of Blaschko

Front 31

Stages of IP? Gene defect?

Back 31

1. blisters

2. wart

3. swirling hyperpigmentation

4. linear hypopigmentation

NEMO

Front 32

What is dowling degos disease? What is degos disease?

Back 32

Dowling Degos Disease- rare genodermatosis that has reticular hyperpigmentation that starts in the axillae and groin, then spreads to other folds--> pitted perioral or facial scars, comedone lesions on neck and back, on the same spectrum as kitamura, galli-galli disease

Degos Disease (malignant atrophic papulosis)- vasculopathy with occlusion and necrosis of skin, GI, CNS

Front 33

Mutation in dowling-degos disease?

Back 33

Keratin 5!! EBS with mottled pigmentation also shares this mutation.

Front 34

What does galli galli have that dowling degos does not?

Back 34

acantholysis

Front 35

What is Galli Galli disease?

Back 35

Galli–Galli disease is a rare inherited condition that has close resemblance clinically to Dowling-Degos' disease, but is histologically distinct, characterized by skin lesions that are 1- to 2-mm slightly keratotic red to dark brown papules which are focally confluent in a reticulate pattern. The disease is also characterized by slowly progressive and disfiguring reticulate hyperpigmentation of the flexures, clinically and histopathologically diagnostic for Dowling-Degos disease but also associated with suprabasal, nondyskeratotic acantholysis.

Front 36

Mutation in EBS with mottled pigmentation?

Back 36

Keratin 5

Front 37

Atrophic reticulated or lentigo like hyperpigmentation that favors the dorsal aspects of the hands and feet and appears during childhood

Back 37

Reticulate acropigmentation of Kitamura

Front 38

Differences between Dyschromatosis Symmetrica Hereditaria and Dyschromatosis Universalis Hereditaria?

Back 38

Dyschromatosis Symmetrica Hereditaria- pigmented macules on dorsal extremities in Asian kids, mutation in DSRAD (adnosine deaminase)

Dyschromatosis Universalis Hereditaria- hyperpigmented macules on trunk in Asian kids, a/w short stature, glaucoma, deafness and grand mal seizures

Front 39

Which is worse, Dyschromatosis symmetrica hereditaria or dyschromatosis universalis hereditaria?

Back 39

Dyschromatosis universalis hereditaria (DUH) is a/w short stature, glaucoma, deafness and grandmal seizures, so yeah, that's pretty bad, DUH

Front 40

classic triad of:

reticulate hyperpigmentation, premalignant leukoplakia, nail dystrophy

Back 40

Dyskeratosis congenita (zinser-engman-cole disease)

XLR

mutations in DKC1, hTERC, hTERT

Front 41

What is the inheritance pattern for the most common form of dyskeratosis congenita?

Back 41

XLR --> boys have it bad!

Front 42

What are the three most common gene mutations for dyskeratosis congenita?

Back 42

DKC, TERC, TERT

Front 43

What is the problem in dyskeratosis congenita?

Back 43

telomerase synthesis and function

Front 44

What is the most common cause of death in patients with dyskeratosis congenita?

Back 44

bone marrow failure

Front 45

What is the classic triad of Dyskeratosis Congenita?

Back 45

reticulate hyperpigmentation, premalignant leukoplakia, nail dystrophy

boys with dyskeratosis congenita CRY (carcinomas, oRal leukoplakia, ptYergium) and TEAR (thrombocytopenia, epiphora, aplastic anemia/AML, reticulated pattern)

Front 46

Naegeli Franceschetti Jadassohn Syndrome has a mutation in what gene?

Back 46

Keratin 14

Front 47

Typical presentation of Naegeli Franceschetti Jadassohn Syndrome?

Back 47

reticulated hyperpigmentation beginning by 2 years of age and often fading during adolescence (this is what differentiates it from dermatopathia pigmentosa reticularis)

+hypohidrosis and heat intolerance, dental abnormalies, no fingerprints

Front 48

What is the difference between Naegeli Franceschetti Jadassohn and Dermatopathia Pigmentosa Reticularis?

Back 48

Dermatopathia Pigmentosa Reticularis has persistence of hyperpigmentation beyond adolescence, non scarring alopecia

**both have a gene mutation in Keratin 14