Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
113 Cards in this Set
- Front
- Back
Inheritance and gene of ichthyosis vulgaris |
AD; unknown
|
|
What is the defect in ichthyiosis vulgaris?
|
defect in profilaggrin - > decreased levels in keratinocytes
|
|
T/F scale in ichthyiosis vulgaris typically involves flexures.
|
False - spares flexures with increased involvement of extensors
|
|
What % of icthyiosis vulgaris patients have atopic derm?
|
50% +
|
|
Where do you biopsy ichthyiosis vulgaris and what do you find?
|
anterior shin
absent granular layer |
|
EM finding of ichthyiosis vulgaris
|
small poorly formed keratohyaline granules
|
|
Skin findings in ichtyiosis vulgaris besides scale.
|
KP
hyperlinear palms |
|
Eponym for X linked ichthyiosis and gene defect
|
steriod sulfatase deficincy
also known as arylsulfatase |
|
Name the Cs of X linked ichhthyiosis
|
comma shaped corneal opacities (50%)
c/s Cryptochorchism (20%) |
|
Pts with X linked ichthyiosis may be at increased risk of what malignancy?
|
testicular ca
|
|
Type of scale in X linked ichthiosis?
|
brown, firmly adherent scale - spares flexures
|
|
Name the contiguous gene syndromes in x linked ichthiyiosis?
|
Kallman syndrome; XLR chondrodysplasia punctata
|
|
What causes failure of labor progression in moms of patients with a certain genoderm?
|
X linked recessive - decreased placental sulfatase
|
|
Eponym for Epidermolytic hyperkeratosis
|
Bullous Contenital ichthyosiform erythroderma
|
|
Inheritance of EHK; Gene defect?
|
AD;
50% spontaneous Keratin 1 and 10 |
|
What entity represents a somatic mosaicism for K1/K10 mutations?
|
Extensive epidermal nevi (ichthyosis hystrix) ->
|
|
Describe the newborn stage of EHK
|
widespread bullae
erythroderma denuded skin leads to sepsis and electrolyte imbalance |
|
Adulthood phase of EHK
|
mainly hyperkeratosis with rar bullae due to infection
foul odor in intertriginous area corrugated scale PPK |
|
Inheritance and gene involved in lamellar ichthyiosis
|
transglutaminase 1
AR |
|
What disease is a/w transglutaminase 1? What is the pathogenesis?
|
Lamellar ichthyiosis
preventsnormal cross linking of the structural proteins in the protein and lipid envelope. |
|
Which two genoderms present as a colloidion baby?
|
Lamellar ichthyiosis
CIE |
|
What occurs in colloidion baby?
|
translucent membrane encasing body
ectropion eclabium erythroderma |
|
What are colloidion babies at risk for?
|
secondary sepsis, hypernatremic dehydration
|
|
Skin findings in lamellar ichthyiosis as adult
|
Erythroderma
generalized large dark platelike scale in flexures decreased sweating PPK |
|
T/F lamellar ichthyiosis is a/w non scarring alopecia.
|
False - scarring alopecia
|
|
Nail findings in lamellar ichthyiosis
|
nail dystrophy
Nail fold inflamm |
|
CIE is?
|
Non bullous CIE
|
|
Inheritance of Non bullous CIE
|
AR
|
|
T/F Non bullous CIE is more common than lammellar.
|
True
|
|
DDX of CIE
|
Neutral lipid storage disease
lamellar ichthyisis vulgaris netherton syndrome |
|
Newborn skin findings in CIE?
|
colloidion baby
|
|
What are the skin findings in CIE after infancy?
|
erythroderma with fine white scale, flexures
extensors with large dark scale hypohidrosis alopecia |
|
Eye findngs in CIE
|
ectropion
|
|
Prenatal dx of harlequin fetus
|
EM with absent lamellarbodies
|
|
Findings in hrlequin fetus
|
Massive hyperkeratotic plates with deep fissures encasing newborn
Ectropion;eclabium; deformed ears |
|
Inheritance and gene in Sjogren Larssen?
|
AR
Fatty aldehyde dehydrogenase (FALDH) |
|
What is the first manifestation of sjogren larssen?
|
generalized ichthyiosis, pruritis, erythroderma
|
|
Describe CNS manifestations of Sjogren Larssen
|
MR; spastic diplegia with scissior gait; SZ
|
|
Eye association with sjogren larssen
|
atypical retinal pigment degeneration in macula - glistening white dots in perimacular distribution
|
|
Name the medication that may help pruritis in Sjogren Larsson and why?
|
Zileuton - reduces leukotriene B4 levels
|
|
Refsum syndrome
|
AKA phytanic acid storage dz
|
|
Inheritance and genes of Refsum syndrome
|
PAHX and PEX7
|
|
What manifests first in Refsum syndrome?
|
Neuro symptoms then skin:
Cerebellar ataxia, progresssive peripheral polyneuropathy. |
|
Dz a/w PAHX gene and what it does?
|
Causes deficiency of phytanoyl coa hydroxylase which is a peroxisomal enzyme-> catalyzes hytanic acid -> accumulation
|
|
Dz a/w PEX7 gene and what it does?
|
Encodes peroxin 7, a receptor important for targetting enzymes to peroxisomes.
|
|
Skin findings in Refsum.
|
mild ichthyiosis (after CNS)
|
|
Eye findings in Refsum Syndrome.
|
retinitis pigmentosa with salt and pepper pigment
|
|
T/F Refsum syndrome can have ENT manifestations.
|
True - SNHL (deafness)
|
|
What organ systems can lead to mortality in refsum?
|
Cardiac with heart block
respiratory failure due to medullary depression |
|
CHILD syndrome AKA?
|
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)
|
|
Inheritance for CHILD syndrome and Gene?
|
XLD
NSDHL |
|
What does NSDHL encode for?
|
3B-hydroxysteroid dehydrogenase , involved in cholesterol biosynthesis
|
|
Uniform Ichthyiosiform erythroderma with sharp midline cutoff
Ipsilateral alopecia severe nail dystrophy Hypoplasia of limbs ipsilateral to icthyiosis Hypoplasic of organs below icthyiosis (varies). |
CHILD syndrome
|
|
Eponym for Conradi Hunermann syndrome.
|
X linked dominant chondrodysplasia punctata
|
|
Inheritance; gene defect.
|
XLD
Emopamil binding protein |
|
How can you diagnose conradi hunermann syndrome prenatally?
|
ultrasound evaluation of long bones
|
|
What is the mutation in EBP and what dz?
|
3b hydroxysteroid isomerase -> defect in cholesterol biosynthesis
|
|
How does the ichthyiosiform erythroderma of infancy in conradi hunermann resolve?
|
follicular atrophoderma
|
|
Eye findings in conradi hunermann?
|
asymmetric focal cataracts
|
|
Bone findings in conradi hunermann?
|
Stiippled epiphyses (punctate calcifications); asymmetric limb shortening
|
|
Type of alopecia in conradi hunermann?
|
patchy alopecia
|
|
T/F conradi hunermann has not craniofacial defects.
|
False -
has frontal bossing, macrocephaly, flat nasal root. |
|
Netherton eponym
|
ichthyosis linearis circumflexa.
|
|
Inheritance of and gene defect in Netherton's
|
AR
SPINK |
|
What does SPINK encode and what dz?
|
Netherton's
encodes LEKT1, serine protease inhibitor that may be impt in downregulating inflammtory pathways |
|
How does Netherton's first present? Then it evolves to.?
|
generalized erythema and scaling with 2o hypernatremia and FTT
ILC - migratory erythematous polycyclic serpiginous plaques with double edged scae; AD; Seborrheic like scale |
|
M/C hair finding in netherton's? Other findings?
|
Trichorrhexis invaginta (ball and socket)
also pili torti; trichorrhexis nodosa |
|
Where is the m/c site to find bamboo hairs?
|
eyebrows
|
|
Immunologic finding in Netherton's?
|
anaphylaxis to food
|
|
Eponym for Erythrokeratoderma Variabilis
|
Mendes da costa syndrome
|
|
Inheritance and gene of EKV?
|
AD; GJB3 gene
|
|
Mutation in genes of EKV encode for what?
|
GJB3 and 4; encode connexin 31 and 30.3; membrane components in gap junction proteins
|
|
T/F Burning sensation may precede or accompany the erythematous lesions in EKV.
|
True - in 35% of pts.
|
|
Which genoderm involves well demarcated geographic patches of erythena day to day?
|
EKV
|
|
Other skin finding in EKV
|
Hyperkeratotic fixed focal plaques
|
|
KID Syndrome stands for?
|
keratiti-ichthyiosis-deafness
|
|
Transmission and genes for KID?
|
AD and AR;
GJB2 |
|
What does gene involved in KID do?
|
encodes for connexin 26 - gap junction protein responsible for comms in the epidermis and cochlea
|
|
Pts with KID syndrome have inceased susceptbility to what infections?
|
Fungal, esp. candida
|
|
Type of PPK found in KID.
|
Stippled PPK
|
|
Skin findings in KID
|
erythematous keratotic plaques
generalized mild hyperkeratosies |
|
Hair and Nail findings in KID
|
dystrophic nails; alopecia in scalp eyelashes eyebrows
|
|
Unusual for ichthyiosis, what are pts with KID at risk for?
|
SCC of skin, tongue
|
|
Diffuse PPK Eponyms
|
Vorner or epidermolytic
Unna or non epidermolytic |
|
Inheritance and genes for Diffuse PPK
|
AD
Vorner - K9 M/c and K1 Unna K1 |
|
What is the M/C inherited PPK?
|
Diffuse PPK - M/C Vorner
|
|
Defect in K1 and K9
|
Disrupt K filament assembly within palmoplantar skin
|
|
Is Diffuse PPK transgrediens or non transgrediens?
|
Non Transgrediens
|
|
Inheritance and gene for howel-evans syndrome
|
AD
Tylosis and oesophageal cancer (TOC) |
|
Type of PPK in Howel Evans
|
Focal weight bearing symmetric non transgradiens
|
|
Eponym for Vohlwinkle Syndrome
|
PPK mutilans
|
|
Inheritance and types of vohlwinkle syndrome.
|
AD
Classic with deafness - GJB Loricrin - Loricrin |
|
In classic vohlwinkles with deafness what does gene encdode? how about the other?
|
connexin 26 gap junction protein
Loricrin - cornified cell envelope -> ichthyiosis |
|
Describe Classic Vohlwinkles clinically.
|
Pseudoainhum
starfish keratoese diffuse honeycomb ppk High frequency non progressive hearing loss |
|
Describe the loricrin variant of vohlwinkles
|
no hearing defect but with mild generalized ichthyiosis
|
|
Eponym for Keratoderma palmoplantaris transgrediens?
|
Mal de meleda
|
|
Inheritance and gene of mal de meleda.
|
AR; secreted Ly-6uPar related protein 1 (SLURP1)
|
|
What is the gene of mal de meleda involved with?
|
SLURP - cell signalling and adhesion
|
|
Features of mal de maleda
|
Glve and stocking PPK with transgrediens
malodorous hyperhidrosis fetid odor Hyperkeratotic plaques over elbows and knees subungual hyperkeratosis; koilonychia |
|
In mal de meleda what precedes hyperkeratosis?
|
Erythema of palms and soles
|
|
Inheritance and gene defect of papillon lefevre syndrome
|
AR
CTSC -> CAPTHEPSIN c |
|
What does capthepsin C do?
|
it is a lysosomal protease
|
|
Skin findings for Papillon Lefevre.
|
Sharply demarcated PPK with erythematous bordr, transgrediens, odor
soles>palms Diffuse> punctate pyogenic infections hyperkeratotic plaques |
|
Other systems involved in papillon lefevre.
|
Mouth - periodontitis with severe singivitis, loss of permanent teeth
CNS - dural calcification |
|
Eponym for Richner Hanhart Syndrome
|
Tyrosinemia type II
|
|
What presents first in richne hanhart - eye or skin?
|
Eye first
|
|
Inheritane and gene in richner hanhart?
|
AR
tyrosine aminotransferase |
|
Pathogenesis of richner hanhart.
|
Mutations in tyrosine aminotransferase - deficiency of the hepatic enzyme ->
accumulation of tyr in all tissues |
|
DDX of richner hanhart
|
Herpetic keratitis
|
|
Describe the keratoderma in richner hanhart.
|
Focal weight bearing plantar surfaces within or witout pain
|
|
What is found on hands of darier's patients?
|
Acrokeratosis verruciformis of Hopf.
|
|
Epidermal Nevus Syndrome eponyms
|
Ichthyiosis hystrix
ILVEN |
|
Genoderm a/w vitamin d resistant rickets?
|
Epidermal nevus syndrome
|