Diko : en:absent axonal flare response after intradermal histamine injection

en:absent axonal flare response after intradermal histamine injection

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1857168

Inhib

⊗

›

peau

(couleur)

•

peau

(fruit)

•

peau

(pellicule)

•

peau

(vie)

•

peau

(cuir)

•

peau

(informatique)

Associations d'idées

[F]

›

1000

en:skin appendage structure

•

en:simian crease (in some patients)

•

en:aminoaciduria (in some patients)

•

en:ballooned neurons

•

en:decreased serum levels of maoa products

•

en:decreased monoamine oxidase a activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased plasma arginine

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase

•

en:decreased activity of tyrosine hydroxylase

•

en:aneuploidy of the x chromosome

•

en:bone marrow hypoplasia (in some patients)

•

en:hemoglobin f increased

•

atrophie de la peau

•

en:hyperpigmented erythematous lesions

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

en:nipple dermatitis

•

en:punctate palmoplantar hyperkeratosis (later onset)

•

en:shagreen patch

•

en:decreased flexion creases

•

en:diffuse skin atrophy (especially dorsa of hands and feet)

•

en:pruritis, intense

•

en:prominent superficial venous pattern

•

en:skin atrophy

•

en:subcutaneous lipomas, well-circumscribed and painful

•

en:skin folds or creases (neck or forearm)

•

en:no uv-induced skin tumors

•

en:ulcers, plantar

•

en:reticular hyperpigmentation

•

en:poor wound healing

•

en:decreased serum factor b (atypical hus)

•

en:decreased levels of component x protein of the pdh complex

•

en:spotty hyperpigmentation

•

en:decreased tissue total and free carnitine

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:decreased csf glycine

•

en:extremely low creatine excretion

•

en:elevated ammonia

•

en:elevated serum protein

•

en:abnormal liver enzymes (1 patient)

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:decreased activity of phosphoglycerate kinase 1

•

en:elevated biopterin in csf

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:decreased serum trypsinogen

•

en:hyperammonemia, episodic

•

en:elevated serum long-chain fatty acids

•

en:decreased serum and muscle coenzyme q

•

en:elevated serum parathyroid hormone (pth)

•

en:decreased fibroblast iduronate sulfatase

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased beta-galactosidase activity

•

en:absent platelet agglutination in presence of ristocetin

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:decreased hepatic gaba transaminase activity

•

en:gamma-glutamylcysteine deficiency

•

en:female carriers show markedly skewed x inactivation

•

en:elevated serum iron and iron binding capacity

•

en:elevated plasma estrogen

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:hypertryptophanemia

•

en:reticulate skin pigmentation

•

en:poor healing with abnormal scarring (in some patients)

•

en:decreased glycerol kinase activity

•

en:cutaneous piloleiomyomas (may be single or multiple)

•

en:normal skin (no palmoplantar keratoderma)

•

en:skin biopsy shows noncaseating granulomas

•

en:impetigo-like eruptions

•

en:affects distal limb and scalp

•

en:milia (rare)

•

en:migratory rashes, painful

•

en:midfrontal capillary hemangioma

•

en:lamellar ichthyosis

•

en:erythematous palmoplantar hyperkeratosis, progressive extending onto dorsum of hands and achilles tendon area

•

en:congenital palmoplantar keratosis

•

en:de- or hypo-pigmented macules (less common)

•

en:lichenification of palms

•

en:hypohidrosis may be present

•

en:cutaneous lichen amyloidosis

•

en:freckles

•

en:pterygia of elbows (in some patients)

•

en:hemangioma

•

déficit en biotinidase

•

en:hyperoxalaemia

•

en:hypohidrosis

•

en:acrogeria

•

en:piebaldism

•

en:leukoplakia

•

en:epidermal hyperkeratosis

•

en:cutaneous leiomyomata (heterozygote carriers)

•

en:palmoplantar keratoderma

•

en:skin of the trunk

•

en:blood urea nitrogen increased

•

en:hypogammaglobulinemia

•

en:axillary freckling

•

en:abnormal alignment of collagen bundles

•

en:sterile pustules

•

en:papules, keratotic follicular

•

en:pseudoainhum

•

en:erythematous ichthyotic skin with reticulate pattern

•

en:deep palmar crease

•

en:mild localized pigmentation abnormalities

•

en:seborrheic dermatitis of scalp

•

kératose en rayon de miel

•

en:pruritus (major feature)

•

en:periorbital hyperpigmentation

•

en:primarily affects trunk

•

en:papulosquamous erythematous plaques

•

en:blistering of palms in hot weather (in some patients)

•

en:multiple lentigines

•

en:hyperpigmented macules of variable size and shape located in a symmetrical pattern primarily on face, neck, trunk, and dorsa of hands and feet

•

en:multiple nevi (face and torso)

•

en:intercrural pterygium

•

en:calcinosis cutis metastatica

•

en:blistering occurs in clusters ('herpetiform', 'arcuate')

•

en:telangiectasia (soles)

•

en:cutaneous leiomyosarcoma (rare)

•

en:most evident on lower legs

•

en:xerosis (buttocks, extensor surfaces of extremities)

•

en:contact dermatitis and other eczema

•

en:lesions become soft and paler with age

•

en:extrusion of calcium deposits ('perforating pxe')

•

en:decreased urocanic acid in stratum corneum

•

en:scalp erosions

•

en:brown, warty keratotic papules (trunk, scalp, forehead, flexural areas)

•

en:axillary apocrine gland hypoplasia

•

en:petechiae and purpura do not occur

•

en:facial midline hemangioma

•

en:hyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles)

•

en:hemangioma (neck and forehead)

•

en:dilated scalp veins radiating from periphery of scalp defect

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:lentigines may be congenital or develop in first months to years of life

•

en:hair bulb tyrosinase present

•

en:low or normal serum erythropoietin

•

en:linear porokeratosis (rare)

•

en:skin atrophy, diffuse, in older patients

•

en:psoriasis (rare)

•

en:striae

•

en:excessive bruising and scarring after injuries and scratching

•

en:low plasma free and total carnitine

•

en:intermediate level of cellular sensitivity to uv light

•

en:low growth hormone levels

•

en:increased urinary potassium

•

en:low-to-normal platelet count

•

en:increased 18-oxocortisol

•

en:low maximal oxygen uptake on exercise testing

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:low plasma triglyceride level

•

en:increased urinary creatine-to-creatinine ratio

•

en:lymphedema (in some patients)

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

lactate élevé

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:low ldl cholesterol

•

en:increased biopterin in urine and csf

•

en:low or undetectable c-peptide

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased pyruvate in serum and csf

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:increased csf lactate during acute episodes

•

en:ketonuria, acute

•

en:less pressure required to lift skin

•

en:follicular keratosis on elbows and knees

•

en:increased interferon-alpha signal

•

en:sebaceous cyst

•

en:psora

•

en:decreased fumarate hydratase activity

•

hyperkaliémie

•

en:glomerular filtration rate decreased

•

en:accumulation of truncated oligosaccharides man(5)glcnac2 and man(9)glcnac(2)

•

naevus bleu

•

hyperkératose

•

hyperplasie sébacée

•

en:hypophosphatasia infantile

•

ichtyose, affection neurologique spastique, et oligophrénie

•

parakératose

•

en:neurinoma

•

en:Tièche-Jadassohn's nevus

•

télangiectasie

•

en:defective DNA repair

•

skin

•

kyste dentigère

•

livedo

•

carence en vitamine D

•

déficit en vitamine D

•

lipome

•

en:proliferating pilar tumor

•

acido-cétose

•

neurinome

•

hyperlipidémie

•

cutis marmorata

•

tumeur maligne de gaine nerveuse périphérique

•

schwannome cellulaire

•

en:keratosis palmaris

•

en:shingles

•

dermite

•

en:increased csf and plasma ghb

•

en:hyperammonemia during episodes

•

en:increased fibroblast free sialic acid

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

en:elevated 3-hydroxypropionic acid

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:elevated hcg (choriocarcinoma)

•

en:abnormal schilling test (not normalized by addition of intrinsic factor)

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

en:elevated 17-hydroxyprogesterone

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

en:decreased activity of mitochondrial complex i

•

en:decreased cholesterol (less common)

•

en:elevated erythrocyte adenosine deaminase activity

•

en:granular osmiophilic deposits (grod) in cells

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:glutaric aciduria

•

en:creatine kinase levels may normalize with disease progression

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:elevated serum insulin-to-c-peptide ratio

•

en:increased serum s-adenosylhomocysteine

•

en:decreased levels of plasma vwf antigen

•

en:absent/reduced free proteins and absent total protein s

•

en:decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf

•

en:decreased serum haptoglobin

•

en:duplication or deletion at 11p15.5

•

en:deficiency or absence of p22-phox (608508) protein

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:decreased serum iga

•

en:decreased plasma apolipoprotein c-ii

•

en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

•

en:decreased circulating renin level

•

en:decreased plasma triglycerides

•

en:elevated creatine kinase (in some patients)

•

en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:dicarboxylic aciduria

•

en:decreased platelet derived growth factor

•

en:increased interleukin 10

•

en:increased 11-deoxycortisol

•

en:increased serum methionine (reported in 2 cases)

•

en:eosinophilia, mild

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased hepatic parenchymal cell stainable iron

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased sodium-potassium pump activity

•

en:increased urinary dicarboxylic acid, transient

•

en:generalized amyloid deposition

•

en:premature separation of centromeric heterochromatin

•

en:atrial abnormalities on electrocardiogram

•

en:impaired oxidation of pyruvate

•

en:absent 7-dehydrocholesterol

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:high ft3/ft4 ratio

•

en:heparan sulfate excretion in urine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

en:cholesterol normal

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:elevated crp

•

en:decreased plasma and urinary ornithine

•

en:dilated rough endoplasmic reticulum (rer)

•

en:aminoaciduria (less common)

•

en:elevated urinary 3-methylglutaconate

•

en:hypoplastic dermal ridges

•

en:umbilical bleeding after birth

•

en:platelet function test normal

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:absent alkyl-dhap synthase activity

•

en:aminoaciduria, mild (in some patients)

•

en:decreased cpt1 activity

•

en:decreased dna excision repair

•

en:anti-tissue transglutaminase antibodies (anti-ttg)

•

en:abnormal igfr1 function

•

en:variable involvement of palms and soles

•

en:decreased ciliary motility

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:decreased grhpr activity

•

en:absent tyrosinase activity

•

en:dry, thick skin

•

en:palmar nevi

•

en:migratory plaques of thickened, sharply demarcated erythema and hyperkeratosis

•

en:transitional zone of cells with gradual loss of nuclei

•

en:pruritus in affected areas

•

en:decreased serum ceruloplasmin

•

en:skin hypopigmentation

•

en:pallor (in some patients)

•

en:pruritus, episodic

•

en:patchy, reticular stains

•

en:reticular pigmentation pattern

•

en:systematized epidermal nevus

•

en:superficial, firm, circumscribed nodule

•

en:periarticular subcutaneous nodules

•

en:sebaceous gland tumors

•

en:subcutaneous nontender firm nodules

•

en:keratosis pilaris (in some patients)

•

en:affects limbs and trunk

•

en:seborrheic dermatitis (1 family)

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:hyperglycinemia (1 patient)

•

en:cystathioninuria (lab finding)

•

en:elevated gamma-glutamyltransferase

•

en:hemizygous deletion at 7q11.23

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:fibronectin decreased

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:decreased methionine synthase activity

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hypercalcemia

•

en:hyperchloremia (mean 109 mm)

•

en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)

•

en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma

•

en:hepatic gamma-cystathionase deficiency

•

en:decreased plasma total cholesterol

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:3-methylglutaconic aciduria

•

en:finely wrinkled palms

•

en:4-hydroxyphenylpyruvic aciduria

•

en:decreased insulin receptor binding

•

en:deficiency or absence of cytochrome b(-245)

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)

•

en:decreased mitochondrial complex v assembly

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:decreased long-chain fatty acid oxidation

•

en:coarse metachromatic granules in white blood cells

•

en:elevated 3-methylcitric acid

•

en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

•

en:3-methylglutaric aciduria (3-mga)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:elevated acth

•

en:decreased red cell pyruvate kinase activity

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

en:high ebv viral load

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:hyperalgesia to pressure

•

en:lichenification

•

en:punctate keratitis

•

en:palms, soles, and oral mucosa are not involved

•

en:antecubial webbing

•

en:excessive skin folds

•

en:accumulation of melanosomes in melanocytes

•

en:numerous pigmented freckles

•

en:hyperkeratosis (especially extensor surfaces)

•

en:hyperpigmentation (in patients with kit mutations)

•

en:mild scarring

•

en:frontal hirsutism

•

en:minimal or absent scarring

•

en:pale, sensitive skin

•

en:lesions often follow blaschko lines

•

en:facial milia tend to disappear in adulthood

•

en:palmoplantar hyperlinearity

•

en:multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp)

•

en:perinasal or perioral nonhealing crusting of the skin

•

en:hyperhidrosis occurs during pain episodes

•

en:fissures of soles (in some patients)

•

en:inguinal freckling

•

en:hyperprolinemia type 1

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:skin

•

en:redundant skin

•

en:hypernatremia

•

en:blister

•

en:ecchymosis

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hemophilia b

•

en:erythematous squamous skin lesions

•

en:urocanase deficiency

•

en:linear arrays of macular hyperkeratoses in flexural areas

•

en:episodic urticaria

•

en:serum transaminase increased

•

en:blistering, mild (occurs mainly on ankles and feet and in response to trauma)

•

en:central atrophic area has a peripheral keratotic ridge

•

en:absence of all distal creases of second to fifth digits

•

en:spiradenoma

•

en:shallow indolent cutaneous ulcers (in some patients)

•

en:eczema (rare)

•

en:hyperhidrosis (in some patients)

•

en:extreme skin fragility

•

en:histology shows 'cannonball' distribution of capillary-sized vessels in the dermis

•

en:erythematous papular skin eruption (infancy)

•

en:deficiency of the interleukin-36 receptor antagonist

•

en:hypohidrosis and/or heat intolerance

•

en:larger and darker scales on neck, elbows, and knees (in some patients)

•

en:mottled pigmentation of photoexposed areas

•

en:cutaneous 0.5 to 1.0 cm bluish and flesh-colored papules (rarely reported)

•

en:cysts occur less commonly on any part of the body where hair grows

•

en:no increased bruisability

•

en:cigarette-paper scars

•

en:itching ( in some patients)

•

en:no scarring

•

en:hypohidrosis (in patients with hsan2d)

•

en:lentigenes

•

en:palmoplantar keratoderma (in some patients)

•

en:cyanosis (25%)

•

en:cafe-noir spots (trunk)

•

en:lentiginosis, generalized (in some patients)

•

en:pruritus during pregnancy, resolves postpartum

•

en:mild lamellar ichthyosis

•

en:trichoepitheliomas, multiple (usually occur in thenasolabial folds, the nose, and upper lip)

•

en:keratoatrophoderma

•

en:raised, firm, hairless posterior scalp nodules

•

en:thick skin (66%)

•

en:telangiectases in sun-exposed and nonexposed skin

•

en:vesiculopustular lesions

•

en:severe bullous blistering lesions

•

en:blanching of the fingers in response to cold

•

en:urticaria pigmentosa or cutaneous mastocytosis (in patients with kit mutations)

•

en:soft, velvety skin

•

en:atrophic scarring (rare)

•

en:annular lesions (3 mm to 1 cm in diameter) located on the face, neck, trunk and limbs

•

en:periorbital wrinkles

•

en:cutaneous capillary malformation

•

en:reticulate hyperpigmentation (primarily trunk)

•

en:elevated gastrin concentration

•

en:steatocystomas

•

en:cilia may also be static, with slow activity

•

en:palmoplantar keratoderma, with honeycomb pattern (in most patients)

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:low apolipoprotein

•

en:easy bruising

•

en:progressive cutaneous atrophy

•

en:woolly hair nevus (in some patients)

•

en:hyperkeratotic papules in blistered areas

•

en:irregular annular keratotic lesions with slightly elevated borders, located primarily on the face but also distributed on the chest and forearms

•

en:increased urinary 2-methylbutyryl glycine

•

en:antecubital webbing (in some patients)

•

en:pterygium of elbow (rare)

•

en:linear skin defects on face and neck (in both patients)

•

en:generalized skin thickening (particularly over the trunk)

•

en:increased serum alpha-alanine (patient b)

•

en:decreased activity of branched-chain ketoacid dehydrogenase (bckdh)

•

peau

•

en:increased urinary catecholamines

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

carence en vit d

•

en:increased urinary carnitine esters

•

en:low to very low hdl cholesterol

•

en:increased ammonia with exercise

•

en:iron low

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

en:markedly increased serum creatine kinase

•

en:increased urinary dopamine

•

en:low or absent follicle stimulating hormone (fsh)

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:increased serum unconjugated bilirubin

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:lysosomal-like storage vacuoles in various tissues

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:increased urinary homovanillic acid (hva)

•

en:kypokalemia

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:low serum ceruloplasmin

•

blister

•

herpès zoster

•

en:lack of excessive parenchymal iron storage

•

angiokeratoma

•

lichénisation

•

en:atheromatous cyst

•

kérato-acanthome

•

fucosidose

•

phénomène de Raynaud

•

Kératose pilaire

•

kyste d'inclusion épidermique

•

hypo-albuminémie

•

Vörner (kératodermie épidermolytique de)

•

maladie de Tay-Sachs

•

en:vitamin D deficiency

•

tumeur vasculaire

•

en:hives

•

en:avitaminosis D

•

en:simplex bullosa epidermolysis

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:venous varicosity

•

xérodermie

•

kératinocyte

•

neurinome malin

•

piébaldisme

•

piebaldisme

•

en:plasma aldosterone normal

•

en:increased serum insulin-like growth factor 1 {comment=hpo:probinson}

•

kyste primordial

•

en:abnormal isoelectric focusing of serum transferrin, type 2 pattern

•

en:melanocytic nevus

•

névrome

•

en:glutaric acidemia type 1

•

neurinome acoustique

•

xanthoma

•

en:epidermal cyst

•

en:prothrombin time increased

•

peau blanche

•

élastome perforant verruciforme

•

en:sweat test normal

•

en:markedly reduced igg levels

•

Glande sébacée

•

en:increased urine vanillactic acid (vla)

•

en:glycoamino aciduria

•

en:decreased thrombospondin

•

en:decreased serum leptin

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:decreased serum cholesterol (in some)

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated urinary 2-ethylhydracrylate

•

en:defective glcnac-pi synthesis

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:glucose-6-phosphate deficiency

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:elevated serum transaminases during infections

•

en:hypokalemia during attacks

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:hyperbilirubinemia in those with liver failure

•

en:exercise-induced myoglobinuria in adults

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:elevated serum transferrin saturation

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:increased urinary oligosaccharides

•

en:decreased fbp1 enzyme activity

•

en:2-aminoadipic aciduria

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

en:high sister chromatid exchange (sce) rate

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:electrolyturia (1 patient)

•

en:hematuria (less common)

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:cellular arrest at g2 of the cell cycle

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:decreased c3 antigen

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased serum insulin-like growth factor-1 (igf1)

•

en:decreased activity of dihydrofolate reductase

•

en:elevated plasma desmosterol

•

en:abnormal liver function tests (sgot, sgpt)

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

en:low copper and ceruloplasmin

•

en:increased serum creatine kinase (1 family)

•

en:increased serum gamma-ggt (231950)

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased ferritin

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:lysyl hydroxylase deficiency

•

en:increased c10:2-carnitine

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:low plasma methionine

•

en:increased tissue levels of free fatty acids

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased serum pyruvate

•

en:elevated cerebrospinal fluid (csf) protein

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:increased blood alanine

•

en:increased urinary o-linked sialopeptides

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:elevated liver function tests

•

en:karyotype analysis normal finding

•

en:high serum guanosine levels

•

en:gaucher disease, type 1

•

en:fluorescence of red blood cells by uv microscopy

•

en:hepatic lipase deficiency (disorder)

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:decreased axonal flare response after intradermal histamine injection

•

en:elevated resting serum lactate, increased with exercise

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus

•

en:elevated ferritin l subunit

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:decreased dermal hydroxylysine content

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine phosphokinase serum increased

•

en:elevated serum levels of adenosine

•

en:high urinary copper

•

en:small areas of alopecia

•

en:decreased palmar creases

•

en:skin nodules - fingers, elbows, nose, ears (onset infancy-childhood)

•

en:skin tags on palms (in some patients)

•

en:dermatitis acidemica

•

en:bilateral palmar simian creases

•

en:multiple nevi

•

en:red mucosa

•

en:wrinkly skin

•

en:subcutaneous infections, recurrent, with fistula formation

•

en:cyst occur most often on the scalp (89%)

•

en:perineal intertrigo

•

en:pigmentation abnormalities (1 family)

•

en:mild skin hyperextensibility

•

en:hypermelanotic macule

•

en:blistering erythematous rash

•

en:decreased sweating of palms and soles

•

en:tone does not appreciably change with age

•

en:poikiloderma (atrophic plaques with telangiectasia)

•

en:cells show increased sensitivity to ionizing radiation

•

en:soft thin skin

•

en:dermatitis (chronic or chronically relapsing, major feature)

•

en:elastosis perforans serpiginosa

•

en:inguinal pterygium, bilateral (in some patients)

•

en:neonatal collodion skin

•

en:fine greyish-white scales

•

en:lack of scarring

•

Épidermolyse bulleuse jonctionnelle

•

en:generalized hypopigmentation

•

en:pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas

•

en:lesions predominantly on face and limbs

•

en:polycythemia

•

en:elevated csf/plasma glycine ratio

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:elevated androstenedione and testosterone

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:papillomatosis over edematous areas

•

en:decreased serum b12 levels

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:abnormal liver enzymes (rare)

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:inactive mutant form of red cell carbonic anhydrase b in one sibship

•

en:4-hydroxyphenylacetic aciduria

•

en:elevated plasma galactose (galactosemia)

•

en:hyperglycemias, postprandial

•

en:elevated plasma campesterol

•

en:decreased urinary sulfate

•

en:fumarase deficiency

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:adenylosuccinase deficiency (finding)

•

en:elevated fibroblast free sialic acid

•

en:elevated il6

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated dihydrobiopterin in csf

•

en:deficiency of fat-soluble vitamins

•

en:defective bile acid metabolism

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf

•

en:decreased blood levels of cationic amino acids

•

en:cholesterol low

•

en:antiribonuclear protein positive

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormal serum liver enzyme levels

•

en:vesicles, congenital, on fingers and soles

•

en:no skin hyperelasticity

•

en:calcified, ulcerating nodules

•

en:erosion, generalized

•

en:hypohidrosis (in most patients)

•

en:hyperkeratotic plaques

•

en:nevus flammus

•

en:degeneration of basal epidermal cells

•

en:hyperkeratosis, focal, on the palms and soles (in adulthood in some)

•

en:absent dorsal skin creases over affected joints

•

en:focal keratoderma of soles (in some patients)

•

en:fingerprints, absence of

•

en:acne, severe comedogenic

•

en:congenital symmetrical palmoplantar keratosis

•

en:eczema (perifollicular accentuation)

•

en:cutis laxa (especially hands and feet)

•

en:draining sinuses (late complication)

•

en:suprapubic skin

•

en:collodion membrane at birth (in some patients)

•

en:atrophic skin over ears

•

en:aplasia cutis congenita

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:epidermal derivative

•

en:hypercalciuria

•

en:skin ulcer

•

en:hereditary fructose intolerance

•

en:netherton syndrome

•

en:corns and callus

•

en:absence of interphalangeal creases

•

en:glycogen storage disease type v

•

en:albinism

•

en:hypoglycemia, fasting

•

en:bilirubin conjugated increased

•

en:erythema marginatum

•

en:erosion

•

en:eczema (8 of 23)

•

en:coccygeal skin tags

•

en:cafe-au-lait spots (93%)

•

en:lesions occur mainly on extremities, scalp, neck, and trunk

•

en:aplasia cutis of the scalp

•

en:cafe-au-lait spots on chest and abdomen (rare)

•

en:abscesses (in skin folds that carry terminal hairs and apocrine glands including axillae, groin, anal fold, mons pubis, and scalp, but not face)

•

en:severe acne (23% of adults)

•

en:anhidrosis, patchy, in some patients

•

en:soft with easy bruising (in some patients)

•

en:scabies and other acariases

•

en:reduced subcutaneous adipose tissue

•

en:rash (erythematous macules or papules)

•

en:subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial)

•

en:redundant connective tissue

•

en:chronic granulomatous nodules (rare)

•

en:palmar wrinkling

•

en:vitiligo (rare)

•

en:subcutaneous ossifications

•

en:maculopapular rash, episodic

•

en:sebaceous cysts (buttocks and perineum)

•

en:knee dimple

•

en:dermatitis, infectious, due to immunodeficiency

•

en:sclerosis of digits (in some patients)

•

en:papillomatosis, confluent centrally, erythematous turning brown later

•

en:no cutaneous photosensitivity

•

en:papillomatosis of affected area

•

en:pigmentary changes on the shins (1 patient)

•

en:spiky hyperkeratosis

•

en:erythematous plaque

•

en:severe progressive ulceration of lower extremities

•

en:erythematous blotching, episodic

•

en:subcutaneous lipoma

•

en:small, annular, anhidrotic keratotic lesions located predominantly on sun-exposed areas

•

en:psoriasis

•

en:absent dystrophin on muscle biopsy

•

en:bicarbonaturia

•

en:frequent deletions of chromosome 9 in melanoma

•

en:low-molecular-weight proteinuria

•

en:increased bilirubin (patient b)

•

en:cutis marmorata

•

en:abnormal granulation tissue

•

en:pilar cyst

•

acrogeria

•

purpura

•

desquamation cutanée

•

en:decreased activity of alpha-ketoglutarate dehydrogenase (alpha-kgdh)

•

en:absence of protein-bound lipoic acid

•

en:hair may not be present on the nevus

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:ketoacidosis

•

en:low or absent prolactin (pl)

•

en:karyomegaly may be found in other visceral organs

•

kyste lié à l'éruption dentaire

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:increased urinary prostaglandin e2

•

en:increased urinary dihydropyrimidines

•

en:intermittent ethylmalonic aciduria

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum uric acid

•

en:increased serum osteocalcin

•

en:increased urinary 2-butanone

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased urinary thymine

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:isochromosome often missing in lymphocyte

•

en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks

•

Oedème

•

kyste folliculaire

•

en:hypogammaglobulinemia (in some patients)

•

agrégation plaquettaire sai diminuée

•

en:high sweat sodium and chloride

•

albinisme oculocutané de type mutant jaune

•

en:cutaneous absorption

•

en:diffuse intravascular coagulation

•

eczéma marginé

•

en:water thesaurismosis

•

en:cavernous tumor

•

en:hyperlipaemia

•

dermatitis

•

keratosis pilaris

•

ichthyose

•

en:annular plaque

•

maladie de tay-sachs

•

épidermolyse bulleuse simple

•

dermite séborrhéique

•

tumeur maligne de la peau

•

cavernome cérébral

•

en:double stranded anti dna antibody

•

névrome, sai

•

coagulation intravasculaire disséminée

•

verrue vulgaire

•

en:macies

•

en:atrophia

•

en:serum bicarbonate increased

•

en:hyperlipemia

•

en:hematuria

•

ichtyose

•

en:hyperlipoproteinemia type iib

•

Miescher (élastome intrapapillaire perforant verruciforme serpigineux de)

•

en:epidermoid cyst

•

en:keratinous cyst

•

en:increased serum citrulline (group b)

•

kyste tapissé d'épithélium

•

en:decreased whole blood serotonin

•

en:cd4+/cd8+ ratio often reversed

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:elevated calcitonin

•

en:decreased acid sphingomyelinase activity

•

en:abnormal oral glucose tolerance

•

en:defect in retrograde intraflagellar transport in cilia

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

en:decreased activity of nadph oxidase

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:hypouricemia

•

en:defective t-cell proliferative responses (in some patients)

•

en:chylomicronemia, refractory fasting

•

en:decreased switched memory b cells

•

en:abnormal columnization of chondrocytes

•

en:decreased serum bun

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased acid beta galactosidase protein and activity

•

en:abnormal urinary oligosaccharides

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

•

en:decreased csf hypocretin

•

en:decreased mitochondrial nadp(h)

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased levels of the e2 subunit protein

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:hla-b27 haplotype association (95% patients)

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypertriglyceridemia, transient

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:decreased serum vitamin a

•

en:dhea sulfotransferase below limit of detection

•

en:hematuria, macroscopic and microscopic

•

en:elevated free carnitine

•

en:elevated pth (parathyroid hormone)

•

en:1.61- and 1.76-mb microduplication of 3q29

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:homocysteinemia

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:dyskinetic ciliary motility

•

en:hypokalemia occurs during paralytic attacks

•

en:deficient efflux of intracellular cholesterol

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:hyperprostaglandinuria

•

en:defective (ca2+) mobilization in t cells

•

en:decreased methylmalonyl-coa mutase activity

•

en:elevated urinary ornithine, lysine, arginine

•

en:hyperphenylalaninemia

•

en:c-band karyotype shows 'railroad track' appearance

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased serum cobalamin

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:hypobetalipoproteinemias

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:decreased or increased serum testosterone

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:impaired response to gm-csf

•

en:hypoketotic hypoglycemia

•

en:high urinary orotic acid

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:glyoxalase deficiency

•

en:elevated plasma cholestanol

•

en:alpha ketoadipic aciduria

•

en:decreased natural killer cells

•

en:decreased serum androgens

•

en:decreased csf serine

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:elevated serum lactate

•

en:elevated sweat chloride (some)

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

verrue plantaire

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)

•

en:increased urinary hydroxyisovaleric acid

•

en:increased il-6

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased neopterin in urine and csf

•

en:increased serum creatine kinase in acute stage

•

injection

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:decreased apoa-i and apoa-ii

•

en:elevated plasma propionylcarnitine

•

en:hyperprolinemia (5-10 times normal)

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated sweat chloride

•

en:elevated plasma and urine succinylacetone

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:elevated plasma phytanic acid

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:increased csf threonine

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:elevated plasma stigmasterol

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:elevated plasma methionine (methioninemia)

•

en:aminoaciduria, intermittent

•

en:abnormal cartilage collagen on em

•

en:elevated serum transaminase levels

•

en:inappropriately low urine osmolality

•

en:abnormal nasal potential difference

•

en:hyponatremic dehydration, rarely

•

en:decreased iga, igg, igm

•

en:decreased or absent serum citrulline

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:aldosterone level increased above normal

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:defect in n- and o-glycosylation

•

en:decreased cortisol-binding globulin

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:decreased circulating aldosterone level

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:decreased csf 5-hydroxyindoleacetic acid (5hiaa)

•

en:decreased intracellular fmr protein

•

hydrocortisone diminuée

•

en:deficiency of creatine phosphate in brain

•

en:decreased copper, iron, zinc

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:anti-ssb positive

•

en:decreased serum thiamine pyrophosphate

•

en:increased urinary 3-methylglutaconic acid

•

dystrophie papillaire et pigmentaire

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:oedema

•

acidocétose

•

méthémoglobinémie

•

tumeur cutanée maligne

•

en:dermatitis, atopic

•

en:transferrin saturation increased

•

en:hyperlipoproteinemia type i

•

hypo-bêta-lipoprotéinémie

•

schwannogliome

•

Erdheim-Chester

•

kyste périodontal latéral

•

abêtalipoprotéinémie

•

en:plantar wart

•

en:serum growth hormone increased

•

polyglobulie

•

acidurie dicarboxylique

•

en:epithelial cyst

•

hématurie microscopique

•

en:leucoplasia

•

en:ichthyosis vera

•

exanthème

•

en:Stevens-Johnson syndrome

•

angiokératome

•

erythema

•

hyperoxalémie

•

peau du cou

•

en:follicular cyst

•

en:neurilemmoma

•

en:common wart

•

déficit en prolidase

•

urticaire-surdité-amylose rénale

•

vascularite cutanée

•

en:developmental odontogenic cyst

•

cholestérol normal

•

en:increased urinary organic acids (in some patients)

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:little to absent aspartylglucosaminuria activity

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased total bilirubin may occur

•

en:increased serum acylcarnitines

•

en:increased serum ige

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased serum parathyroid hormone (pth)

•

en:lower total cholesterol

•

en:increased urinary ketones

•

en:increased urinary 2-methylacetoacetic acid

•

en:large spermatozoa

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

hypophosphatasie foetale

•

en:low serum magnesium

•

péliose

•

en:popliteal webbing

•

albinisme

•

acanthosis nigricans

•

scalp

•

en:secondarily decreased activity of the pyruvate dehydrogenase complex (pdc)

•

en:tenderness in areas of eroded skin (in some patients)

•

en:patchy desquamation

•

en:atrophic hyperpigmented streaks on face and neck

•

en:increased serum lactate dehydrogenase (ldh)

•

en:hyperhidrosis

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:low csf creatine

•

en:increased serum triiodothyronine (t3)

•

en:low csf creatinine

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:fibroblasts are small and rounded with prominent nucleoli

◀

Génériques

[F] [H]

›

en:absent

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6832470 • caches: c1=12 c2=1009 c3=1

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