You are here: Home / Library / Dermatology References / Derm Facts - complete! / Basic Science

Basic Science

Basic Science
This page is also available as a PDF File
 

Antigens
bullous pemphigoidx
bullous pemphigoid antigen-1, 230 kDd; bullous pemphigoid antigen-2, 180 kDa
cicatricial pemphigoid
bullous pemphigoid antigen-2
EBA
a chain of type VII collagen (290 kDa)
EB, dystrophic
type VII collagen
EB, generalized atrophic benign
bullous pemphigoid antigen-2, laminin
EB, junctional-pyloric atresia
integrin a6 b4
EB, junctional-lethal
laminin 5 a3, b3, g2
EB simplex recessive with muscular dystrophy
plectin
EB simplex recessive-Koebner
keratin 14
EB, simplex
keratins 5, 14
EBA
type VII collagen (anchoring fibrils)
herpes gestationis
bullous pemphigoid antigen-2
ichthyosis vulgaris
profilaggrin?
lamellar ichthyosis
keratinocyte-specific transglutaminase
pemphigus foliaceus
desmoglein-1 (a cadherin) 160 kd
pemphigus vulgaris
desmoglein-3 (a cadherin) 130 kd
 
 
Chromosomes
1
dysplastic nevus s., xeroderma pigmentosa
 
1p
Ehlers-Danlos type VI, erythrokeratoderma viriabilis, erythrokeratoderma with ataxia
 
1q
Chediak-Higashi s. (CHS), EB-junctional-Herlitz (LAMB3, LAMC2), familial cold urticaria, PCT, porphyria variegata (PPOX), Vohwinkel s. (LOR)
 
2
acrokeratoelastoidosis, kappa light chain, elastin molecule
 
2p
Carney/LAMB/NAME s. (2p16)
 
2q
Cockayne s.-XP-B (ERCC3), EB-pyloric atresia (ITGA6), Ehlers-Danlos IV (COL3A1) (2q31), lamellar ichthyosis, Waardenburg’s s. type I (2q35,), Waardenburg’s s. type III (2q35 PAX-3), wrinkly skin s. (WSS, 2q32), xeroderma pigmentosum-complement group B (ERCC3, XPB) (2q21)
 
3p
EB-dystrophic dominant (3p21.3, COL3A1), EB-pretibial type (3p21.3), EB-Bart type (3p21.3), Hailey-Hailey d. (3q21-q24), Marfan s. type II (3p25-p24.2), Muir-Torre s. (3p21.3), von Hippel-Lindau s. (3p26-p25), Waardenburg’s s. type II (3p14.1-p12.3, MITF), XP-C (3p25, XPC)
 
3q
Hailey-Hailey d.
 
4p
chondrodysplasia punctata (4p16-p14), Ellis-van Creveld s. (4p16)
 
4q
piebaldism (C-KIT), sclerotylosis
 
5q
Gardner’s s. (APC)
 
6
HLA-A,B,C,DR,DP,DQ,E,F,G, C3 and C4, b2 microglobulin, TNF-a and b
 
6p
hemochromatosis
 
7
Ehlers-Danlos type IV (arthrochalasis multiplex congenita), pro alpha 2 (I) gene
 
7p
arginosuccinic aciduria
 
7q
EEC s. (7q11.2-q21.3), Ehlers-Danlos s. type VII (7q22.1)
 
8
Rothmund-Thomson s.
 
8p
Pfeiffer s. (8p12-p11.2), Werner s. (8p12-11.2, WER)
 
8q
EB-Ogna (8q24), EB-muscular dystrophy (8q24, PLEC)
 
9
hereditary coproporphyria
 
9p
albinism 3 (TRP1), blue rubber bleb nevus s. (TIE2), melanoma (9p21, CDKN2), trichoepithelioma-familial
 
9q
basal cell nevus s. (9q22.3, PTC), Ehlers-Danlos I, II (COL5A1), familial keratoacanthomas, hypomelanosis of Ito (9q33-qter), nail-patella s., tuberous sclerosis 1 (TSC1), XP-A (XPAC)
 
10p
Refsum’s d. (10pter-p11.2)
 
10q
Apert’s s. (10q26), congenital erythropoietic porphyria (10q25.2-q26.3), Cowden d. (PTEN, MMAC1), EB-junctional-GAB (10q24.3, BPAG2), Hermansky-Pudlak (HPS)
 
11
acute intermittent porphyria, EB-dystrophic
 
11p
Beckwith-Wiedemann s. (11pter-p15.4), XP-E (DDB)
 
11q
albinism-tyrosinase - & + (11q14-q21, TYR), ataxia telangiectasia (11q22.3), atopy (11q12-q13), hereditary angioedema (11q11-q13.1, C1NH), Papillion-Lefevre s., porphyria-acute intermittent (11q24.1-q24.2)
 
12q
Darier’s d. (12q23-q24.1), EB-simplex, epidermolytic hyperkeratosis, non-epidermolytic palmoplantar hyperkeratosis, ichthyosis bullosa of Siemens (12q11-q13), monilethrix (12q13), multiple lipomatosis (12q15), pachyonychia congenita (12q12-q14), white sponge nevus (12p11.2-q11)
 
13q
XP-G (13q33, ERCC5), hidrotic ectodermal dysplasia
 
14
ataxia telangiectasia, heavy chain
 
14q
lamellar ichthyosis (TGM1)
 
15q
albinism-tyrosinase + (15q11.2-q12), Bloom’s s. (15q26.1), hypomelanosis of Ito (15q11-q13), Marfan s. (15q21.1), tyrosinemia type I (15q23-q25)
 
16p
Rubinstein-Taybi s. (16q13.3), tuberous sclerosis-2 (TSC2)
 
16q
cylindroma, tyrosinemia II- Richner-Hanhart s. (TAT)
 
17p
Sjogren-Larson s. (FALDH)
 
17q
EB-simplex, epidermolytic hyperkeratosis (generalized/palmoplantar) (17q12-q21), pachyonychia congenita, white sponge nevus, neurofibromatosis 1 (17q11.2, NF1), tylosis, EB-junctional (ITGB4)
 
18p
hereditary multiple leiomyomata (18p11.32)
 
18q
EB-junctional (18q11.2, LAMA3), palmoplantar keratoderma, striae, erythropoietic protoporphyria (18q21.3, FCE)
 
19p
acanthosis nigricans, C3 deficiency, Peutz-Jeghers s. (19p13.3)
 
19q
XP-D (19q13.2-q13.3)
 
20q
McCune-Albright s. (20q13.2), SCID with ADA deficiency (20q13.11)
 
21
CR3 deficiency
 
21q
leukocyte adhesion deficiency (21q22.3)
 
22
lambda light chain,
 
22q
DiGeorge s. (22q11), neurofibromatosis II (22q12.2)
 
X
hypomelanosis of Ito, incontinentia pigmenti type I, Menkes s.
 
Xp
Gorlin-Goltz s. ichthyosis-recessive X-linked (Xp22.32, STS), incontinentia pigmenti-1, Kallmann s. (Xp22.3), keratosis follicularis spinulosa decalvans (Xp22.2-p22.13), ocular albinism, Partington s. (Xp22-p21), Wiskott-Aldrich s. (Xp11.23-p11.22)
 
Xq
Alport s. (Xq 22), anhidrotic ectodermal dysplasia (EDA), congenital generalized hypertrichosis, dyskeratosis congenita (Xq28), Fabry’s d. (Xq22), incontinentia pigmenti-2 (Xq28), Menkes s. (Xq12-q13)
 
 
 
Chromosomes & disease, alphabetized
 
a
acanthosis nigricans (19p), acrokeratoelastoidosis (2), acute intermittent porphyria (11), albinism 3 (TRP1) (9p), albinism-tyrosinase - & + (11q, TYR), albinism-tyrosinase + (15q), anhidrotic ectodermal dysplasia (Xq, EDA), arginosuccinic aciduria (7p), ataxia telangiectasia (14),
b
b2 microglobulin (6), BCC (patched), basal cell nevus s. (9q, PTC) (), Bloom’s s. (15q26.1), blue rubber bleb nevus s. (9p, TIE2) 
c
C3 deficiency (19p), CR3 deficiency (21), Chediak-Higashi s. (CHS) (1q42.1-42.2), Cockayne s.-XP-B (10q11, ERCC3), congenital generalized hypertrichosis (Xq), Cowden d. (10q22-q23, PTEN, MMAC1), cylindroma (16q),
d
Darier’s d. (12q23-24.1), dysplastic nevus s. (1)
e
EB-dystrophic (COL3A1) (3p21.3), EB-dystrophic (11), EB-junctional (1q25-q31, LAMB3, LAMC2), EB-junctional-GAB (10q, BPAG2), EB-junctional (17q, ITGB4), EB-junctional (18q, LAMA3), EB-muscular dystrophy (8q, PLEC), EB-Ogna (8q), EB-pretibial type (3p21.3), EB-pyloric atresia (2q, ITGA6), EB-simplex (12q), EB-simplex (17q), Ehlers-Danlos IV (2q, COL3A1), Ehlers-Danlos I, II (9q, COL5A1), Ehlers-Danlos type IV (arthrochalasis multiplex congenita) (7), Ehlers-Danlos type VI (1p36.3-p36.2), elastin molecule (2), epidermolytic hyperkeratosis (12q), epidermolytic hyperkeratosis (generalized/palmoplantar) (17q), erythropoietic protoporphyria (18q21.3, FCE), erythrokeratoderma viriabilis (1p34-35), erythrokeratoderma with ataxia (1p34-35)
f
familial cold urticaria (1q), familial keratoacanthomas (9q),
g
Gardner’s s. (5q, APC),
h
Hailey-Hailey d. (3q21-24), heavy chain (14), hemochromatosis (6p), hereditary angioedema (11p, C1NH), hereditary coproporphyria (9), HLA-A,B,C,DR,DP,DQ,E,F,G, C3 & C4 (6), Hermansky-Pudlak (10q23.1-q23.3, HPS), hidrotic ectodermal dysplasia (13q), hypomelanosis of Ito (15q11-q13),
i
ichthyosis bullosa of Siemens (12q), incontinentia pigmenti type I (Xp11), incontinentia pigmenti-2 (Xq28), ichthyosis vulgaris (1q21,FLG),
k
k light chain (2),
l
l light chain (22), lamellar ichthyosis (2q), lamellar ichthyosis (14q, TGM1),
m
Marfan s. type II (3p25-p24.2), melanoma (9p, CDKN2), Menkes s. (X-MKN/ATP7A), monilethrix (12q13), Muir-Torre s. (3p21.3)
n
nail-patella s. (9q34.1), neurofibromatosis 1 (17q11.2, NF1), neurofibromatosis II (22), non-epidermolytic palmoplantar hyperkeratosis (12q),
o
ocular albinism (Xp), Osler-Rendu-Weber s. 2 (12q11-q14)
p
pachyonychia congenita (12q12-q14), pachyonychia congenita (17q), palmoplantar keratoderma (18q), Papillion-Lefevre s. (11q), PCT (1q), Peutz-Jeghers s. (19p13.3), piebaldism (4q12, C-KIT), porphyria variegata (1q22, PPOX), pro alpha 2 (I) gene (7), porphyria-congenital erythropoietic (10q25.2-q26.3), psoriasis susceptibility (17q)
r
recessive X-linked ichthyosis (Xp, STS), Rubinstein-Taybi s. (16p13.3)
s
sclerotylosis (4q), Sjogren-Larson s. (17p11.2, FALDH), striae (18q),
t
TNF-a & b (6), trichoepithelioma-familial (9p), tuberous sclerosis 1 (9q34, TSC1), tuberous sclerosis-2 (16p13.3, TSC2), tylosis (17q), tyrosinemia II [Richner-Hanhart s.] (16q, TAT),
v
Vohwinkel s. (1q21, LOR), von Hippel-Lindau s. (3p26-p25)
w
Waardenburg’s s. 1 (2q35, PAX-3), Waardenburg’s s. 2 (3p & 13q, MITF), Watson s. (17q11.2), Werner s. (8p, WER), white sponge nevus (12p11.2-q11, 17q21-q22),
x
xeroderma pigmentosa (1), XP-A (9q, XPAC), XP-C (3p25, XPC), XP-D (19q), XP-E (11p, DDB), XP-F (16p13.13-p13.2), XP-G (13q33, ERCC5),
 
 
Collagen
Type
Chain composition
Tissue
Disease
I
[a1(I)]2a2(I)
bone, skin, tendon
Ehlers-Danlos type 7A, 7B
I-trimer
[a1(I)]3
skin, tumors
 
II
[a1(II)]3
cartilage
 
III
[a1(III)]3
fetal skin, blood vessels, GI tract
Ehlers-Danlos type 4
IV
[a1(IV)]2a2(IV)
basement membrane
 
V
[a1(V)]2a2(V); [a1(V)]3
all
Ehlers-Danlos type 2
VI
a1(VI) a2(VI) a3(VI)
all
 
VII
[a1(VII)]3
anchoring fibrils
 
VIII
[a1(VIII)]3
endothelial cells
 
IX
a1(IX) a2(IX) a3(IX)
cartilage
 
X
[a1(X)]3
hypertrophic cartilage
 
XI
a1(XI) a2(XI) a3(XI)
cartilage
 
XII
[a1(XII)]3
cornea, ligaments, perichondrium, periosteum, tendons
 
XIII
[a1(XIII)]3
all
 
XIV
[a1(XIV)]3
cornea, skin, tendons
 
XV
unknown
basement membrane
 
XVI
[a1(XVI)]3
cartilage, internal organs, skin
 
XVII
[a1(XVII)]3
hemidesmosomes
 
XVIII
unknown
basement membrane
 
XIX
unknown
basement membrane
 
 
 
Cytokines
basic FGF, acidic FGF
macrophages, endothelial cells
angiogenesis & fibroblast proliferation
CSF-1
multiple cells
macrophage activation, granulation tissue formation
EGF
 
epidermal growth & differentiation, wound healing, keratinocyte migration via a2 integrins
IFN-g
produced by Th1 cells
inhibits IgE synthesis, down-regulates Th2 responses
IL-1
produce by neutrophils, keratinocyte derived
express growth factors, T & B cell activation, chemotaxis, ICAM-1 induction, pyrogen
IL-1 sources
astrocytes, B-cells, corneal cells, dendritic cells, endothelial cells, fibroblasts, keratinocytes, Langerhan’s cells, macrophages, melanoma cells, mesangial cells, neutrophils, OKM 1+ LGL
 
IL-2
 
stimulates T lymphocytes
IL-3
keratinocyte derived
stimulates proliferation
IL-4
secreted by Th2 cells
synthesis of IgE, accumulation of eosinophils
IL-5
secreted by Th2 cells
synthesis of IgE, accumulation of eosinophils
IL-6
secreted by Th2 cells, keratinocyte derived
synthesis of IgE, accumulation of eosinophils
Insulin-like GF-I
fibroblasts; epidermal cells
reepithelialization and granulation tissue formation, induces TGF-a autocrine proliferation of keratinocytes
keratinocyte GF
fibroblasts
keratinocyte motility and proliferation
PDGF
platelets, macrophages, epidermal cells
fibroblast proliferation and chemoattraction, macrophage chemoattraction and activation, mediates vasoconstriction
PGE2
produced by monocytes
inhibits Th1 cell derived IFN-g
TGF-a, heparin-binding EGF
platelets
epidermal and mesenchymal regeneration, pleiotropic cell motility and proliferation
TGF-b1 and b2
platelets, macrophages
epidermal cell motility, chemotaxis of macrophages and fibroblasts, extracellular matrix synthesis and remodeling
TGF-b3
macrophages
anti-scarring effects
TNF-a
neutrophils
expression of growth factors
 
 
Enzymes
ALA dehydratase
converts D-aminolevulinic acid to porphobilinogen; ALA dehydratase deficiency porphyria
cholesterol sulfate
inhibits normal desquamation of stratum corneum cells
coproporphyrinogen oxidase
converts coproporphyrinogen III oxidase to harderoporphyrinogen; hereditary coproporphyria
ferrochelatase
converts protoporphyrin to heme; erythropoietic protoporphyria
glucose-6-phosphate dehydrogenase
oxidoreductase class enzyme, first enzyme in the pentose phosphate shunt of glucose metabolism, absence may lead to increased hemolysis (e.g. for patients on dapsone)
homogentisic acid oxidase
lack leads to endogenous ochronosis (alkaptonuria)
porphobilinogen deaminase
Converts porphobilinogen to hydroxymethylbilane; acute intermittent porphyria
protoporphyrinogen oxidase
converts protoporphyrinogen oxidase to protoporphyrin IX; variegate porphyria
steroid sulfatase
converts cholesterol sulfate to cholesterol; absent in recessive X-linked ichthyosis
uroporphyrinogen decarboxylase
converts uroporphyrinogen I to coproporphyrinogen I, converts uroporphyrinogen III to 7-carboxyl porphyrinogen III; porphyria cutanea tarda, hepatoerythropoietic porphyria
uroporphyrinogen II cosynthase
converts hydroxymethylbilane to uroporphyrinogen; congenital erythropoietic porphyria
 
 
 
Human Leukocyte Antigens (HLA); increased incidence
alopecia areata
DQB1*03 (DQ3), DRB1 (DR11)   severe; DRB1*0401 (DR4), DQB1*0301 (DQ7)
Behçet’s s.
B5, B51, B52
dermatitis herpetiformis
B8, DR3, DQw2
epidermolysis bullosa acquisita
DR2
erythema multiforme
B35, B62
erythema multiforme (herpes-associated)
DQB1*0301, DQw3, Bw62, B35, DR53, DR4
Hailey-Hailey d.
B16
herpes gestationis
DR3, DR4
lichen planus
DQw1, DR2, DR1, DR10, DRw9, Bw61/DRw9
linear IgA
B8
mycosis fungoides
DR5, DQB1*03
pemphigus foliaceus
DRB1*0102, DR1, DQw1, DR4,DQw3, DQB*0301
pemphigus vulgaris
Dw10/DR4, Dw10, DR4, DRw6, DQB1.3
pityriasis rosea
DR
psoriasis, pustular
B27
psoriasis
Cw6 (9-15x), B13, B17, Bw57
psoriatic arthritis
B27, B39, DQw3
Reiter’s s.
B27 (80%)
Sezary s.
DQB1*0502
Sjögren’s s.
DQw2, DR3
systemic lupus erythematosus
homozygous C4A+DR2, DR2, DR3
systemic sclerosis
DQA2, C4AQ0
Unna-Thost d.
12q11-13
urticaria, chronic idiopathic
DR4, DRB4 53, DQ8, DQA 3011/12
vitiligo
A30, Cw6, Cw7, DQw3, DR4, DR6
Vogt-Koyanagi-Harada s.
Dw15, DQw3, DR4, DRw53
 
 
Keratin
K1
structural keratin, suprabasal epidermal keratinocytes, palmoplantar suprabasal keratinocytes; non-epidermolytic palmoplantar keratoderma, epidermolytic hyperkeratosis
K2e
epidermal granular layer
K2e
ichthyosis bullosa of Siemens
K3
cornea
K4
non-keratinizing stratified squamous epithelia; white sponge nevus
K5
basal layer “mitotic” keratinocytes; epidermolysis bullosa simplex
K6
proliferation, keratoderma (epidermolytic)
K6a
outer root sheath, hyperproliferative keratinocytes, oral epithelium; pachyonychia congenita-Jadassohn-Lewandowsky type (type 1)
K6b
nail bed, myoepithelium, inflammation
K7
transformed cells
K8
simple epithelia
K9
palmar-plantar specific protein keratoderma (nonepidermolytic)
K10
structural keratin, epidermal granular layer; epidermolytic hyperkeratosis
K11
 
K12
cornea
K13
white sponge nevus
K14
basal layer “mitotic” keratinocytes
K15
basal layer of non-keratinizing epithelia
K16
outer root sheath, hyperproliferative keratinocytes, oral epithelium; proliferation keratoderma (epidermolytic), pachyonychia congenita-Jadassohn-Lewandowsky type (type 1)
K17
nail bed, myoepithelium, inflammation; pachyonychia congenita (Jackson-Lawler-type 2), PRP
K18
simple epithelia
K19
bulge cells, simple epithelia
K20
Merkel cells
K21
intestinal epithelium
 
 
Proteins/Amino Acids
citrulline
keratotic BCC, inner root sheath, hair medulla, keratolinin
cysteine
involucrin
desmoglein 1
pemphigus foliaceous
desmoglein 3
pemphigus vulgaris
elastin
dermis; pseudoxanthoma elasticum
fibrillin
elastic microfibril of lower BMZ & dermis; Marfan’s s.
filaggrin
binds keratinocytes
histidine
filaggrin, profilaggrin
involucrin
differentiation
keratolinin
differentiation
loricrin
differentiation
profilaggrin
processed to filaggrin; absent in ichthyosis vulgaris
 
 
 

Document Actions

Log in


Forgot your password?
New user?