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80 Cards in this Set

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This AD disorder of cornification caused retention hyperkeratosis with normal epidermal proliferation.
Ichthyosis Vulgaris
What disorder is caused by a defect in profilaggrin synthesis leading to decreased levels of profilaggrin in keratinocytes
Ichthyosis Vulgaris
These are clinical features of what disease?
1) Fine white adherent scale sparing flexures
2) Increased involvement on extensor extremities
Ichthyosis Vulgaris
X-linked ichthyosis is caused by a deficiency in what?
Steroid Sulfatase Deficiency
This disorder is caused by an X-linked recessive gene deletion mutation of the steroid sulfatase gene (STS) on Xp22.32
X-linked ichthyosis
Prenatal amniocentesis or chorionic villus sampling that reveals increased DHEAS levels indicates the fetus has what X-linked recessive disease?
X-linked ichthyosis
Failure of labor to begin or progress in a mother carrying affected fetus with X-linked Ichthyosis is caused by what?
1) Decreased placental sulfatase and estrogen
2) Increased fetal DHEAS
Key features of what disease?
Skin: Adherent, "dirty", brown scale on extensors, posterior neck with sparing of flexures
X-linked ichthyosis
What ocular finding is seen in X-linked ichthyosis?
Asymptomatic Comma-Shaped corneal opacities
X-linked ichthyosis is associated with a possible increase in testicular cancer if the baby has what clinical finding?
Cryptorchidism
Epidermolytic Hyperkeratosis is also known by what other 2 names?
1) Bullous congenital ichthyosiform erythroderma
2) Bullous Ichthyosis
Epidermolytic Hyperkeratosis is and AD disorder caused by spontaneous mutations in what 2 types of keratin?
Keratin 1 (gene 12q)
Keratin 10 (gene17q)
A fetal skin biopsy done at weeks 20-22 showing clumped keratin filaments on EM is characteristic of what dx?
Epidermolytic Hyperkeratosis
A newborn with widespread bulla, erythroderma, denuded skin +/-focal areas of hyperkeratosis, secondary sepsis and electrolyte imbalances most likely has what dx?
Bullous congenital ichthyosiform erythroderma
(aka Bullous ichthyosis or epidermolytic hyperkeratosis)
An adult with Local to generalized hyperkeratosis, with rare focal bulla secondary to staph or gram negative infection is characteristic of what dx?
Epidermolytic Hyperkeratosis
These additional skin findings are seen with what dx?
1) Dark, warty scales with spiny ridges in the flexures
2) Foul smelling secondary infection in macerated intertriginous areas
3) Scales shed with full-thickness stratum corneum leaving tender, denuded base
4) PPK
Epidermolytic Hyperkeratosis
Amniocentesis showing a mutation in TGM1 is diagnostic of what disease?
Lamellar Ichthyosis
Lamellar Ichthyosis is an AR disease caused by a mutation in what gene?
Transglutaminase 1 (TGM1) gene on 14q11
Heterogenous mutations this gene interfere with the normal cross-linking of structural proteins in the protein and lipid envelope of the upper epidermis, leading to defective cornification and desquamation.
Lamellar Ichthyosis
A newborn Collodion baby covered with a translucent membrane, ectropion, eclabium, and generalized erythroderma has what disorder?
Lamellar Ichthyosis
A child or adult with generalized large, dark platelike scale in the flexures, erythroderma, ectropion, scarring alopecia, nail dystrophy with nail fold inflammation, PPK, decreased sweating with heat intolerance has what?
Lamellar Ichthyosis
What hair and nail finding do you seen in an adult with Lamellar Ichthyosis?
Hair: Scarring Alopecia
Nail: Secondary dystrophy with nail fold inflammation
What disease should you think of if you see and adult with scarring alopecia, PPK, and decreased sweating with heat intolerance?
Lamellar Ichthyosis
This disease presents exactly like Lamellar Ichthyosis but doesn't always have a mutation in TGM1?
Congenital Ichthyosiform Erythroderma (CIE)
A newborn with massive hyperkeratotic plates with deep fissures, severe ectropion, eclabium, deformed or absent ears is called what?
Harlequin fetus
1) Defective keratinization with abnormal K-cyte differentiation and hyperkeratosis
2) Error in lipid metabolism with lipid accumulation in the SC
3) Absent Lamellar granules
4) Defective profilaggrin conversion to filaggrin
5) Decrease in calpain
Are all causative of what AR disease that usually leads to a stillborn baby?
Harlequin fetus
Sjorgren-Larsson Syndrome is an AR disorder due to mutations in what gene?
Fatty Aldehyde Dehydrogenase
(FALDH) gene
Mutations in the FALDH gene lead to a decrease in what 2 enzymes?
1) Fatty-Alcohol
2) NAD oxidoreductase (FAO) activity
FALDH gene mutations lead to defects in that pathway?
Defective conversion of fatty alcohol to fatty acid
Conversion of fatty alcohol to fatty acid is important in what synthesis of what?
1) Epidermal lipid synthesis
Conversion of fatty alcohol to fatty acid is important in the catabolism of what 2 CNS proteins?
Catabolism of phospholipids and sphingolipids in CNS Myelin
Mutations in the FALDH gene as seen in Sjogren-Larsson Syndrome results in accumulation of what 3 proteins that causes pruritus?
1) Fatty alcohol
2) Fatty aldehyde-modified lipids
3) Leukotriene B4
(Think Sjogren-Larsson likes lipids)
A baby born with generalized ichthyosis, erythroderma and pruritus most likely has what diease?
Sjogren-Larsson Syndrome
A baby born with glistening white dots in a perimacular distribution signifying atypical retinal pigment degeneration in the macula have what disease?
Sjogren-Larsson Syndrome
Refusum Syndrome is an AR disease caused by a mutation in what 2 genes?
1) PAHX gene on 10p
2) PEX7 gene on 6q
What AR syndrome results in accumulation of phytanic acid in the serum ?
Refusum Syndrome
A baby born with neurologic defects such as cerebellar ataxia and progressive peripheral polyneuropathy who later develops mild ichthyosis has what syndrome?
Refusum Syndrome
What characteristic ocular findings are seen in Refusum syndrome?
Retinitis Pigmentosa with salt and pepper pigment
Sensorineural deafness, arrhythmias with heart block, symmetric muscle wasting and salt and pepper retina pigment is what AR disease?
Refusum syndrome
Refusum syndrome is treated by a dietary restriction of what 3 foods?
1) Green vegetables
2) Dairy
3) Ruminant fats
(I must Refuse to eat my vegetables, but lots of salt and pepper)
This X-linked dominant syndrome is caused by a defect in the Emopamil-Binding protein (EMP) gene on Xp11
Conradi-Hunermann Syndrome
Conradi-Hunermann Syndrome is also known by what other 2 names?
1) X-linked dominant chondrodysplasia punctuate
2) Conradi-Hunermann-Happle Syndrome
What main bony finding are you looking for when diagnosing Conradi-Hunermann Syndrome?
Stippled epiphyses
(punctate calcifications) in the long bones
Ichthyosiform erythroderma in Blaschko's lines in infancy, that resolve with follicular atrophoderma and/or hyperpigmentation with coarse patchy alopecia is seen in what X-linked dominant disorder?
Conradi-Hunermann Syndrome
In addition to asymmetric focal cataracts and short stature what 3 musculoskeletal findings are characteristic of Conradi-Hunermann Syndrome?
1) Stippled epiphyses
2) Asymmetric limb shortening
3) Scoliosis
What does CHILD syndrome stand for?
Congenital
Hemidysplasia with
Ichthyosiform erythroderma and
Limb
Defects
CHILD syndrome is caused by an X-linked dominant mutation in what gene?
NSDHL gene on Xq28
True or False
CHILD syndrome is lethal in males?
True
Unilateral ichthyosiform erythroderma with sharp midline cutoff involving trunk and limbs is seen in what syndrome?
CHILD syndrome
What associated hair and nail findings are seen in CHILD syndrome?
1) Ipsilateral alopecia
2) Severe nail dystrophy
What are the typical limb defects seen in CHILD syndrome?
Hypoplasia to agenesis of the limbs on the same side as the ichthyosis
Netherton Syndrome is caused by an AR mutation of what gene?
SPINK5 gene on 5q2
A baby with Netherton syndrome is born with generalized erythema and scaling with what electrolyte imbalance?
Hypernatremia
What is the characteristic hair finding in Netherton syndrome?
Trichorrhexis Invaginata
(Ball-and-socket configuration; Bamboo hair)
Where is the most common site you will see Bamboo hair in Netherton Syndrome?
Eyebrow hair
Migratory erythematous, polycyclic, serpiginous plaques with double-edged scaled along the margins with atopic dermatitis and seborrheic scale on the face are the skin findings of what AR disorder?
Netherton Syndrome
What is another name for Erythrokeratoderma Variabilis?
Mendes da Costa syndrome
Erythrokeratoderma Variabilis is caused by a AD mutation in what gene?
GJB3 gene on 1p35
What does the GJB3 gene encode for?
Connexin 31
What does the GJB4 gene encode for?
Connexin 30.3
What are connexins?
Membrane components in gap junction channels
What is the function of connexins in the skin?
Intercellular communication and signaling
Defects in connexins or gap junction channels lead to what?
1) Impair epidermal differentiation
2) Impair the skin's response to external stimuli
Well-demarcated, geographic patches of erythema with daily change in shape and position on the face, butt and extensor extremities are characteristic of what AD dx?
Erythrokeratoderma Variabilis
A patient with Erythrokeratoderma Variabilis may see what when exposed to cold, wind, heat or emotional upset?
more lesions
KID syndrome stands for what?
Keratitis
Ichthyosis
Deafness
KID syndrome is an caused by an AD mutation in what gene?
GJB2 on 13q11-12
The gene GJB2 encodes for what?
Connexin 26
Connexin 26 is responsible for intercellular communications between what 2 entities?
Intercellular communications in the epidermis and cochlea
What ear findings are seen in KID syndrome?
Non-progressive sensorineural deafness
These skin findings are seen in what AD syndrome?
1) Generalized hyperkeratosis with follicular plugging
2) Erythematous keratotic plaques on the face
3) PPK with stippled surface
4) Recurrent bacterial and fungal infections
5) SCC's
KID syndrome
1) Alopecia of the scalp, eyebrows and eyelashes
2) Dystrophic nails
3) Nonprogressive sensorineural deafness
Are seen in this syndrome.
KID Syndrome
KID syndrome has what typical ocular findings?
Progressive bilateral vascularized keratitis
(Secondary blindness can occur)
Diffuse Palmoplantar Keratoderma (PPK) is classified into what 2 categories?
1) Epidermolytic PPK
2) Nonepidermolytic PPK
What is another name for Epidermolytic PPK?
Vorner PPK
What is another name for Nonepidermolytic PPK?
Unna-Thost PPK
Vorner or Epidermolytic PPK is caused by AD mutations in what 2 keratins?
Keratin 9 (most common) and
Keratin 1
Unna-Thost or Nonepidermolytic PPK is caused by an AD mutation in what keratin?
Keratin 1
Diffuse bilateral, symmetric hyperkeratosis of the palms and soles with white-yellow hue and a well-demarcated erythematous border with painful secondary fissuring is seen with what?
Diffuse PPK
Hyperhidrosis and PPK is typical of what variant of diffuse PPK?
Unna-Thost PPK