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54 Cards in this Set
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Synonym for Ichthyosis Vulgaris?
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Ichthyosis simplex
Autosomal dominant ichthyosis |
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Ichthyosis Vulgaris AD or AR? Which Gene?
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AD defect in Profillagrin
Gene: FLG Chromosome 1 |
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Associated Clinical findings in Ichthyosis Vulgaris?
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scaling that spares flexures
Keratosis pilaris Atopic dermatitis Hyperlinear palms |
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What dz is assoc with the acquired form of Ichthyosis Vulgaris?
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Hodgkins
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Histopath for Ichthyosis Vulgaris?
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Hyperkeratosis
Reduced to absent granular layer EM: abnml keratohyaline granules |
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What are the five Major Inherited Ichthyosis?
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Ichthyosis vulgaris
X-linked ichthyosis Epidermolytic hyperkeratosis (aka Bullous CIE) Congenital Ichthyosiform Erythroderma Lamellar Ichthyosis Harlequin Fetus |
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Name the Hereditary syndromes with Ichthyosis
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Conradi-Hundermann Disease (chondrodysplasia punctata)
CHILD Syndrome Sjogren-Larsson Syndrome Chanarin-Dorfman syndrome (neutral lipid storage disease) Netherton's syndrome Refsum's disease Multiple sulfatase deficiency Trichothiodystrophy (PIBIDS) KID Syndrome |
9 total
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What is the defect in X-linked Ichthyosis?
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Xlinked Steroid Sulfatase
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What are some clinical findings in Xlinked Ichthyosis?
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Comma shaped corneal opacities
Cryptoorchidism (20%) Delayed parturition (placental sulfatase deficiency) |
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Histology of Xlinked Ichthyosis?
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acanthosis
hyperkeratosis of stratum corneum and sweat duct orifices normal to THICKENED granular layer Increased cholesterol sulfate in serum and scales |
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What is the Gene defect in Lamellar Ichthyosis?
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AR defect
Transglutaminase-1 (TMG1) Affects cross-linking of loricrin and involucrin in cornificed cell envelope formation |
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Clinical features of lamellar ichthyosis
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large, plate like scales
increased in flexures eclabion/ectropion, cicatricial alopecia, madarosis Heat intolerance |
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Defect in Epidermolytic Hyperkeratosis
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AD mutations in K1 (w/ severe PPK) and K10
-- excessive tonofilaments form shell around immature keratohyaline granules |
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Histology of Epidermolytic Hyperkeratosis
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Hyperkeratosis
Hypergranulosis Coarse basophilic keratohyalin granules Shredded-appearing granular layer (epidermolysis) |
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What is the defect in Non-Bullous CIE?
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AR defects in TGM1, ALOX12B and ALOXE3 (lipogenases) w/ accelerated epidermal turnover
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Clinical findings in CIE?
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Hypohidrosis, heat intolerance
Ectropion, alopecia, nail dystrophy Erythroderma w/ fine white scales Collodion Baby |
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Histo findings in CIE
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Hyperkeratosis
Focal parakeratosis Follicular plugging EM: lipid droplets and abnormal lamellar bodies |
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What diseases can present as a Collodion Baby?
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CIE
Lamellar Ichthyosis, Netherton's syndrome Conradi syndrome |
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Defect in Ichthyosis Linearis Circumflexa
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aka Netherton's
AR mutation is SPINK5 gene encoding LEKT1 -- serine protease inhibitor that down regulates inflammatory pathways |
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What is Mendes da Costa syndrome?
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Erythrokeratoderma Variabilis
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Defect in Erythrokeratoderma variabilis
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AD mutations in GJB3 & GJB4 encoding Connexins 31 and 30.3 (impaired epidermal differentiation)
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Histology of Erythrokeratoderma Variabilis
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acanthosis & hyperkeratosis
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Harlequin Fetus Defect
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AR defect in ABCA12 (ATP binding cassette lipid transport protein -- lipid accumulation in stratum corneum and absent lamellar granules)
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Histology of Harlequin Fetus Defect
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Massive compact hyperkeratosis (20-30X normal)
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Refsum Syndrome Gene Defect
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AR mutation in PAHX (phytanoyl-CoA hydroxylase) or PEX7 (peroxin 7)
- Phyantic acid storage dz, tx with chlorophyll free diet |
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Clinical symptoms of Refsum
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Cerebellar ataxia
Sensorineural deafness Retinitis pigmentosa "salt & pepper" Arrhythmias/heart block Mild Ichthyosis |
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What is the distinctive finding in Refsum histopath?
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lipid filled vacuoles in basal keratinocytes
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Defect in Sjogren-Larrson Syndrome
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AR defect in FALDH (fatty acid dehydrogenase)
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Clinical findings in Sjogren-Larrson Syndrome
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Spasticity - spastic di-tetraplegia (scissor gait), Mental retardation, atypical retinitis pigmentosa w/ perimacular "glistening white dots", generalized ichthyosis & erythroderma
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What is the cause of pruritis in Sjogren-Larrson?
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excess leukotriene B4, treat with Zileuton
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Name PPKs w/o Transgrediens
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Vorner
Unna-Thost Howell-Evans |
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Name PPKs w/ Transgrediens
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Mal de Meleda
Greither's Papillon-Lefevre Vohwinkle Olmsted |
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Vorner defect
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AD K9 mutation w/ epidermolytic hyperkeratosis on path; most common PPK
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What is the most common PPK?
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Vorner's
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Unna Thost defect
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AD K1 mutation, no epidermolysis on path --> clinically similar to Vorner
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Howell-Evans defect
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AD mutation in TOC gene
Tylosis Oesophageal Cancer |
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Name PPKs w/ trangrediens
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Mal de Meleda
Greither's Papillon-Lefevre Vohwinkle Olmsted |
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Defect in Mal de Maleda
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AR mutation in SLURP1
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Defect in Papillon-Lefevre
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AR mutation in CTSC gene (cathepsin C)
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Defect in Vohwinkle
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mutation in GJB2 w/ deafness (connexin 26) same gene as KID syndrome -- loricrin mutation, but WITHOUT deafness
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Clinical findings in Olmsted
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mutilating PPK w/ painful contractures, perioral plaques
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Clincal findings in Greither's
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- AD transmission, missense mutation in K1
diffuse PPK involving achilles, elbows and knees |
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Clinical findings in Papillon-Lefevre
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Malodorous PPK w/ hyperhidrosis
Severe gingivitis Pyogenic skin infections Dural calcification @ tentorium & choroid attachments |
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Clinical findings in Vohwinkle
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"honey comb" PPK
"starfish" and linear keratosis pseudo-ainhum & loss of distal phalanges |
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Types of Porokeratosis
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DSAP
Mibelli Porokeratosis palmaris et plantaris disseminata Linear Porokeratosis |
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Pathology of Porokeratosis
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cornoid lamella -- vertical column of parakeratosis
absent granular layer below vacuolar degeneration below that |
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Histology of Acrokeratosis Verruciformis of Hopf
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"church spiring" papillomatosis
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Pathology of Warty Dyskeratoma
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cup-shaped comedo-like invaginated lesion
suprabasilar clefing w/villi acantholytic dyskeratosis (corps ronds & grains) central keratin plug |
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Axillary granular parakeratosis
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Acquired intertriginous red to hyperpigmented pruritic papules
Proposed: profillagrin defect w/failure to degrade keratohyaline granules |
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Histopathology of Axillary granular parakeratosis
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Parakeratosis w/ retention of nuclei AND keratohyaline granules
Hyperkeratosis +/- acanthosis |
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Flegel's Disease aka?
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Hyperkeratosis lenticularis perstans
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Defect in Flegel's?
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Unknown -- but AD inharitance, rare
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Clinical features of Flegel's
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red-brown disc like hyperkeratotic papules on palms, soles, hands, feet legs & forearms
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Dermpath of Flegel's Dz?
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localized hyperkeratotic mound w/ parakeratosis
hypogranulosis atrophy of spinous layer lichenoid infiltrate |
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