Diko : en:abnormal subcutaneous fat tissue distribution

en:abnormal subcutaneous fat tissue distribution

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1859347

Inhib

⊗

›

peau

(couleur)

•

peau

(pellicule)

•

peau

(vie)

•

peau

(cuir)

•

peau

(fruit)

•

peau

(informatique)

Associations d'idées

[F]

›

1000

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

en:vitiligo (1 patient)

•

en:acanthosis nigricans (in some patients)

•

en:attacks usually decrease or disappear after age 40 years

•

en:cutaneous candidiasis

•

en:erythematous, irregular netlike pattern of vessels

•

en:glycogen accumulation seen on biopsy

•

en:lichenified lesions

•

en:milia of upper face and ears (infancy)

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle hypertrophy of the lower extremities

•

en:muscle weakness, proximal, slowly progressive

•

en:fibrillation

•

en:no lipodystrophy in face and neck

•

en:proximal muscle weakness (occasional)

•

en:pterygia of groin (in some patients)

•

en:subcutaneous scalp cysts

•

en:secondary myopathic features

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced ankle dorsiflexion

•

en:muscle weakness, severe, diffuse

•

en:muscle fiber splitting

•

en:jaundice, neonatal (in some patients)

•

en:generalized darkening of the skin

•

en:fiber-type grouping pattern

•

en:subepidermal capillary ectasia

•

en:increased echo intensity in affected muscles

•

en:small papules on sun-exposed areas

•

en:sacral dimple (in some patients)

•

en:normal or increased truncal adipose tissue

•

en:multiple pterygia

•

en:milky white skin

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:increased chloride levels in sweat

•

en:hypohidrosis may be present

•

en:emg shows myopathic changes

•

en:decreased postsynaptic length

•

en:cutis marmorata

•

en:acute rhabdomyolysis

•

en:thick, loose, doughy skin

•

en:tan macules on glans penis and penile shaft

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:vacuolar degeneration

•

en:hand dermatitis (non-allergic, irritant)

•

en:other localized skin infection

•

en:variation of myofiber diameter

•

en:rhabdomyolysis with exercise (in older patients)

•

en:pilomatricoma

•

en:piebaldism

•

en:onset of weakness in hands and feet

•

en:muscle mri shows fatty infiltration

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:wrinkly skin

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:edema of lower extremity

•

en:decreased activities of complexes i and iv

•

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

•

en:abnormalities in myofibril organization

•

en:affects distal limb and scalp

•

en:gait abnormalities (occurs later)

•

en:mitochondrial dna depletion (in some)

•

en:pruritic eczematous lesions

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:multiple small nevi (rare)

•

en:mitochondrial swelling

•

en:cutaneous lichen amyloidosis

•

en:global muscle weakness

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:dimples (chin, buttocks)

•

en:atypical nevi often present in non-sun exposed areas

•

en:annular erythematous edematous plaques

•

en:skin appendage structure

•

en:squamous epitheliomas, multiple

•

en:pyramidal skinfold of halluces

•

en:abnormal sweating due to autonomic dysfunction

•

en:other benign neoplasm of skin, unspecified

•

en:myopathy (rare)

•

en:abnormal fat accumulation in the back (in some patients)

•

en:upper limb weakness

•

en:thenar muscle atrophy

•

en:symptoms may be induced by heat

•

en:onset birth-newborn period

•

en:proximal weakness

•

en:muscle biopsy shows atrophy

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:increased perisarcolemmal calcium deposition

•

en:cutaneous capillary malformation

•

en:cores contain densely packed myofilaments

•

en:brownish macular and lentiginous lesions, disseminated, present on extremities, trunk, and neck

•

en:facial erythema

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:inability to sit or hold head up

•

en:harlequin ichthyosis

•

en:generalized limb muscle atrophy

•

en:skin atrophy over affected bones

•

en:erythrokeratodermia

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:decreased distal reflexes

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

en:bilateral single transverse palmar creases

•

en:atrophy of the small muscles in the hands and feet

•

en:nerve conduction studies normal

•

en:loose, redundant skin on fingers

•

en:emg may show myopathic features

•

en:patchy, reticular stains

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:tinea capitis, severe or recurrent

•

en:small, red lesion, may increase in size with age

•

en:pruritus during pregnancy, resolves postpartum

•

en:peroneal muscle atrophy

•

en:facial xanthomatous eruptions (rare)

•

en:muscle weakness is not a feature

•

en:loose redundant skin (especially of dorsum of hands and feet and anterior abdominal wall)

•

en:vasculitis rash

•

en:increased internal nuclei in skeletal muscle fibers

•

en:hypertonia at birth

•

en:hyperpigmentation in a reticular pattern primarily on flexural skin

•

en:muscle biopsy shows type i fiber predominance

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:necrotic skin ulcers (in 1 patient)

•

en:muscle weakness (1 patient)

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:lesions are often brownish colored

•

en:jaundice (in some)

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:hyperpigmentation associated with increased adrenocorticotropic hormone (acth)

•

en:generalized hyperkeratosis

•

en:florid red complexion (finding)

•

en:cutaneous syndactyly (less common)

•

en:blistering, generalized, recurrent, severe (occurs after mild physical trauma)

•

en:absence of some scapular muscles (less common)

•

en:skin may redden during episodes

•

en:reticulated pigmentation (seen in recessive form)

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:no erythema

•

en:tubular aggregates mainly in type 1 fibers

•

en:ulcerations of distal extremities

•

en:skin mottling due to poor perfusion

•

en:prominent involvement of the quadriceps femoris muscles

•

en:progressive loss of facial adipose tissue

•

en:plantar keratoderma (in some patients)

•

en:muscle weakness trunk

•

en:large adherent dark pigmented scales

•

en:inclusions are tdp43-immunoreactive

•

en:emg shows chronic denervation

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:angioedema

•

en:vesicles on scalp and skin filled with clear fluid and less than 1cm in diameter

•

en:erythema, mild to moderate (in some patients)

•

en:neonatal jaundice

•

en:hypotonia (45%)

•

en:hypothenar muscle atrophy

•

en:gingival hyperkeratosis

•

en:fistula, enterocutaneous

•

en:proximal muscle weakness, less severe

•

en:distal lower limb amyotrophy

•

en:denervation of skeletal muscles

•

en:degenerate mitochondrial on em

•

en:chronic candidiasis

•

en:areflexia of lower limbs

•

en:other changes in skin color

•

en:plantar hyperkeratosis

•

en:normal sensation

•

en:tumors appear most often on sun-exposed regions

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:z-disk streaming

•

en:scalp dryness

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:moderate to severe acne

•

en:muscle atrophy, proximal and distal (predominant lower limb involvement)

•

en:impaired would healing

•

en:granular layer hyperplasia

•

en:foot-drop

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:cysts may disappear on their own (10%)

•

en:biceps brachii atrophy

•

en:acanthosis

•

en:progressive muscle weakness

•

en:thickening of the fascial structures of the palm and fingers

•

en:telangiectases (especially on tongue, lips, palate, face, conjunctiva, trunk, nail beds, fingers, and finger pads)

•

en:subungual fibroma

•

en:small nodular skin-tags

•

en:sarcomere disappearance seen on muscle biopsy

•

en:pterygium of bilateral (in some patients)

•

en:progressive vitiligo

•

en:cafe-au-lait spot (in 1/4 patients)

•

en:predominance of oxidative fibers

•

en:neurogenic abnormalities seen on emg

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:leg cramps may occur with exercise

•

en:hypoplasia of cervical paravertebral muscles

•

en:erythematous nodular skin lesions

•

en:erosion

•

en:overlapping lesion of skin

•

en:unilateral erythema and scaling (present at birth or soon after birth, face is spared)

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:myopathic changes seen on emg

•

en:decreased muscle succinate dehydrogenase

•

en:tumors are locally invasive

•

en:walking may be limited

•

en:proximal muscle atrophy (in some patients)

•

en:proximal muscles may be mildly affected

•

en:painful adipose tissue

•

en:occasional neurofibromas

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:muscle weakness, proximal, limb-girdle

•

en:erosion, generalized

•

en:muscle weakness, distal, particularly affecting the hands

•

en:degeneration of basal epidermal cells

•

en:distal muscle weakness due to peripheral neuropathy

•

en:diffuse erythematous maculopapular rash

•

en:fatty infiltration seen on muscle biopsy

•

en:finger and wrist extensor weakness

•

en:hemangiomata, especially thorax and upper abdomen

•

en:increased endo- and perimysial connective tissue

•

en:reduced muscle tone but normal power

•

en:loss of gluteal adipose tissue

•

en:pyoderma

•

en:pilonidal cyst

•

en:pelvic girdle weakness

•

en:palmoplantar hyperhidrosis (in some patients)

•

en:pale-gray skin

•

en:muscle mounding

•

en:blister

•

en:hyperpigmented streaks following lines of blaschko

•

en:eczema

•

en:cyanosis

•

en:cutis aplasia, occipital

•

en:absent distal interphalangeal creases

•

en:fear of cancer of skin

•

en:external ear

•

en:thin skin

•

en:signs of denervation seen on biopsy

•

en:hypertrophy of skin of soles

•

en:warfarin-induced skin necrosis

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:warty thickening of flexural skin

•

en:reticulolinear skin defects over face and neck (4/4 patients)

•

en:patchy vitiligo

•

en:palmoplantar epidermolytic hyperkeratosis along blaschko lines (rare)

•

en:nemaline bodies

•

en:mildly extensible skin

•

en:lymphedema of the hands (in some patients)

•

en:ichthyosis (in contiguous gene syndrome patients)

•

en:increased centralized internal nuclei

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:generalized hypopigmentation

•

en:fair skin

•

en:elastin-rich connective tissue nevi (elastoma)

•

en:decreased respiratory complex i+iii and ii+iii activity

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:weakness may be exacerbated by illness or stress

•

en:neonatal blisters and erosions

•

en:pebbly skin lesions on back, upper arms, and thigh

•

en:non-pitting edema

•

en:no muscle fiber necrosis

•

en:occurs in linear distribution

•

en:palmar xanthomas

•

en:marked variability of fiber size

•

en:prominent palmar flexion creases

•

en:periorbital hyperpigmentation

•

en:plaque-like facial hemangioma

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:poor sweating in response to heat

•

en:porokeratosis

•

en:premature exertional muscle weakness

•

en:preserved heel standing

•

en:progression of skin lesions -

•

en:myopathy (in some patients)

•

en:proximal lower limb amyotrophy

•

en:myosin storage myopathy (in some patients)

•

en:muscle biopsy shows increased number of endplate regions distributed over increased span of muscle fiber

•

en:myopathy

•

en:mulitple papules (1-2 mm skin colored and hyperpigmented)

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:midface capillary hemangioma

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:mild tissue fragility

•

en:mitochondrial myopathy, severe

•

en:mitochondria show paracrystalline inclusions

•

en:most evident on lower legs

•

en:mri of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment

•

en:multiple gingival papules

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:muscle atrophy appears later in disease course

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows variation in fiber size

•

en:muscle shows lipid accumulation

•

en:muscle wasting in lower limbs

•

en:muscle weakness, distal more than proximal

•

en:muscle weakness (type i)

•

en:mutilating skin deformity

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:pruritis, intense

•

en:skin of the trunk

•

en:type 1 fiber atrophy

•

en:umbilical cord bleeding

•

en:upper and/or lower limbs may be affected

•

en:malar rash

•

en:variation of fiber size and shape

•

en:velvety skin

•

en:vesicular lesions (inflammatory type b)

•

en:weak extraocular muscles

•

en:skin

•

en:thin, dry skin

•

en:langerhans cell

•

en:abrasion/scratch/blister

•

en:baldness/losing hair

•

en:fear of having other skin disease

•

en:pityriasis rosea

•

en:seborrheic dermatitis

•

en:symptom/complaint nails

•

en:scrotum

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:trunk muscle atrophy

•

en:thick calluses on soles of feet

•

en:pruritus of skin lesions, severe

•

en:shagreen patch

•

en:punctate vasculitis skin lesions

•

en:pustular lesion

•

en:rectus medial atrophy

•

en:residual slightly atrophic scarring

•

en:reticular pigmentation pattern

•

en:sarcoplasmic inclusions

•

en:scleroderma

•

en:seborrheic dermatitis of scalp

•

en:skeletal muscle biopsy shows misplaced mitochondria

•

en:swelling of the hands and feet, episodic

•

en:skeletal muscle damage

•

en:skin blisters

•

en:skin dimple over apex of long bone angulation

•

en:skin fissure

•

en:skin tags on genitalia (in some patients)

•

en:stevens-johnson syndrome

•

en:stretched skin

•

en:subcutaneous infections, recurrent, with fistula formation

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:fine white scales

•

en:lymphedema of lower extremity

•

en:decreased mitochondria

•

en:cutaneous melanoma

•

en:cysts over wrist and ankle joints

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:decreased activity of complex i and complex iv

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:circumscribed transparent membrane on the scalp vertex may be ulcerated (other areas of the body are rarely involved)

•

en:decreased palmar creases

•

en:decreased sweating of palms and soles

•

en:deep fissures of skin creases

•

en:deep skin creases in toes

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:degenerating nerve terminals

•

en:dermal ossification (osteoma cutis)

•

en:dermatitis, symmetric pattern

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:dimples (over bowed limbs)

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:absence of pretibial myxedema

•

en:skin of the lip

•

en:chronic skin ulcer

•

en:non-glabrous skin

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal sensitivity to uvb wavelengths by radiation monochromator skin testing

•

en:abscess formation

•

en:accumulation of abnormal mitochondria

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:centrally located nuclei seen on muscle biopsy

•

en:aplasia/hypoplastia of the eccrine sweat glands

•

en:asymmetric, linear skin defects (anterior face and neck)

•

en:attacks precipitated by rest after exercise

•

en:basaloid follicular harmartomas

•

en:biopsy shows dystrophic changes

•

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

•

en:blistering skin lesions, recurrent

•

en:cafe au lait spot

•

en:calf hypertrophy (reported in 1 family)

•

en:diaphoresis

•

en:dimples over large joints

•

en:lymphedema, dorsa of feet

•

en:jaundice, intermittent (in some patients)

•

en:hyperpigmented/hypopigmented macules (dorsum hands and feet, face)

•

en:hypotonia, axial, severe

•

en:ichthyosis

•

en:ichthyosis hystrix

•

en:impaired toe-walking

•

en:increased fiber size variability

•

en:inflammatory cells absent

•

en:itching ( in some patients)

•

en:keratosis pilaris of arms and legs

•

en:hyperactive deep tendon reflexes

•

en:lack of facial subcutaneous fat

•

en:lamellar ichthyosis

•

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

•

en:lichenification

•

en:limb-girdle muscle weakness

•

en:localized cutaneous deposits of superficial fat

•

en:loss of subcutaneous adipose tissue in limbs

•

en:lower limbs more often affected

•

en:lymphatic vessels present at the periphery of lesion

•

en:hyperkeratotic cutaneous vascular lesions

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:distal limb muscle weakness, lower more than upper

•

en:edema (hands and feet)

•

en:distal limb muscle weakness and atrophy

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:dysphagia

•

en:dystrophic changes occur later

•

en:dystrophic features seen on muscle biopsy

•

en:easy bruisability of lower extremities

•

en:eczema-like lesions (in some patients)

•

en:eczema (face and flexural areas)

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:hip flexor weakness

•

en:emg shows decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation

•

en:emg shows reduction of voluntary recruitment

•

en:enteroviral dermatomyositis syndrome

•

en:erysipelas (in some patients)

•

en:extensive cutaneous involvement rarely occurs

•

en:face edema

•

en:follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows and knees

•

en:follows blaschko's lines

•

en:generalized amyotrophy

•

en:absence of interphalangeal creases

•

en:papillomatosis over affected area

•

en:absence of spontaneous activity at birth (severe form)

•

en:pallor during episodes

•

en:nemaline rods may be observed

•

en:netherton syndrome

•

en:neuropathic process seen on muscle biopsy

•

en:nonspecific myopathic changes

•

en:non pruritic

•

en:normal neonatal period may occur before weakness is apparent

•

en:normal or decreased facial and neck adipose tissue

•

en:normal or increased facial and neck adipose tissue

•

en:palmar creases, fine to acrogeria-like

•

en:myxedematous appearance

•

en:palmoplantar hyperkeratosis, mild (in some patients)

•

en:palmoplantar keratoderma, mild

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:poorly defined palmar creases

•

en:poor sarcomeric structure (in some patients)

•

en:poor wound healing

•

en:prominent fingertip pads

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myopathy, mild

•

en:rectus fascia separation

•

en:multiple skin tags

•

en:melanocytic nevus

•

en:migratory rashes, painful

•

en:mildly decreased cytochrome c oxidase activity

•

en:mild atrophic scarring

•

en:mitochondrial complex i deficiency

•

en:mitochondria dna deletion

•

en:morbilliform eruption

•

en:multiple facial papules

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:myokymia

•

en:muscle biopsy may show mild kinetic abnormalities of the achr

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle fiber necrosis

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, predominantly proximal (in some patients)

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness (in some patients)

•

en:myalgia (in some patients)

•

en:proximal limb muscle weakness initially

•

en:red mucosa

•

en:lymphedema (lower limb)

•

en:tremors subside over the first 2 to 3 months of life

•

en:structurally abnormal mitochondria

•

en:subcutaneous connective tissue nevi

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:symmetrical muscle wasting

•

en:thick, indurated skin over entire body

•

en:thigh hypertrophy

•

en:transient eczema

•

en:tubulofilamentous inclusions

•

en:sterile pustules

•

en:type 2 muscle fiber atrophy

•

en:ulcers, plantar

•

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

•

en:varicose veins (reported in 1 family)

•

en:weakness of long finger extensor muscles (occurs later)

•

en:weakness of neck muscles may occur later

•

en:yellow-orange colored skin

•

en:congenital disorder of glycosylation type ia

•

en:absence of subcutaneous fat over entire body except buttocks, hips, and thighs

•

en:stiff skin

•

en:stage 4 - skin pallor, atrophy, and scarring

•

en:replacement of myofibers with connective tissue

•

en:severe facial acne (in female patient)

•

en:reticular skin pigmentation (classic feature, nola3 patient)

•

en:reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients)

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

en:sacral dimple (2 patients)

•

en:scaly skin rash over the perineum

•

en:scapular muscle weakness

•

en:seborrheic dermatitis in infancy

•

en:severe atopic dermatitis

•

en:shoulder muscle weakness

•

en:spiradenoma

•

en:simian crease (in some patients)

•

en:single palmar crease

•

en:size variation (1 x 1 to 6 x 4 cm)

•

en:skeletal muscle may show less severe mtdna deletion

•

en:skeletal muscle shows dystrophic changes

•

en:skin atrophy (over nose and scalp sutural areas)

•

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

•

en:soft skin

•

en:soft tissue vascular malformations

•

en:maceration of palms and soles

•

en:pilo-sebaceous apparatus

•

en:lymphedema, hands (rare)

•

en:difficulty standing

•

en:cyanosis during episodes

•

en:lower limb muscle atrophy

•

en:decreased achr at the endplate

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:decreased hand grip strength

•

en:dermatitis ichthyosiform

•

en:dermatomycoses

•

en:diaphoresis (with pheochromocytoma)

•

en:diminished sweating

•

en:cox-depleted fibers

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy

•

en:dysarthria

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:easy bruising (in some patients)

•

en:eczema (8 of 23)

•

en:enhanced secondary hyperalgesia and flare response on mustard oil application

•

en:enlarged nuclei with central pallor

•

en:eosinophilic inclusions

•

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

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:blistering, generalized, recurrent (occurs after mild physical trauma)

•

en:amyotrophy of the upper limbs (in some patients)

•

en:asymmetric muscle involvement

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophy of shins

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:autophagosome

•

en:basal cell layer contains clumped keratin filaments

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:blistering, recurrent

•

en:congenital symmetrical palmoplantar keratosis

•

en:bluish skin nodules

•

en:breaks in epidermal ridges of palms and fingers

•

en:bright copper-red coloration of skin (in darker-skinned individuals)

•

en:burning sensation

•

en:calcinosis cutis

•

en:calf hypertrophy (less common)

•

en:calf muscle hypoplasia

•

en:candidiasis

•

en:chronic granulomatous nodules (rare)

•

en:epidermal ridges absent from palms and soles

•

en:dark skin pigmentation

•

en:episodic cold-triggered erythrocyanosis of toes and fingers

•

en:knee dimple

•

en:hypoplastic flexion creases dorsum of hand

•

en:hypoplastic sweat glands

•

en:imaging shows progressive fatty infiltration of muscle

•

en:increased fat and fibrous tissue

•

en:increased fibrosis

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased staining for myotilin, dystrophin, desmin

•

en:keratoderma, mutilating, of palms and soles

•

en:leg edema

•

en:hyperkeratosis of weight-bearing areas of soles

•

en:lichenified skin

•

en:limb-girdle muscle atrophy

•

en:linear arrays of macular hyperkeratoses in flexural areas

•

en:lipid droplet accumulation

•

en:lipomas or lipomatous masses (most cases)

•

en:longitudinal hyperkeratotic lesions along flexor surface of each finger, extending to palm

•

en:episodic urticaria

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:low-amplitude compound muscle action potential (cmap)

•

en:hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area)

•

en:increased mitochondria with abnormal cristae

•

en:hyperkeratosis of the palms (seen in recessive form)

•

en:floppy infant

•

en:erdheim-chester disease

•

en:hyperkeratosis (in some patients)

•

en:extensive fatty infiltration on biopsy

•

en:fasciculations (less common)

•

en:fatty infiltration

•

en:fetal akinesia deformation sequence

•

en:fibrosis over affected area

•

en:fibrous nodule

•

en:fine white or light brown scales on scalp, face, trunk, and limbs

•

en:exercise intolerance (cvs+)

•

en:focal keratoderma of soles (in some patients)

•

en:glycogen deficiency in muscle fibers

•

en:folliculitis of the scalp, trunk, and extensor surfaces of the extremities

•

en:hyperkeratosis

•

en:granulomatous dermatitis (in some patients)

•

en:heterotopic bone formation in subcutaneous fat

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:gait unsteady

•

en:freckles

•

en:photosensitivity bullous dermatitis (1 patient)

•

en:poikiloderma (atrophic plaques with telangiectasia)

•

en:polymyositis

•

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

•

en:posterior midline scalp defects

•

en:premature aging, mild

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:prolonged capillary refill

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:prominent superficial veins

•

en:prominent veins, lower limbs

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:pruritus, episodic

•

en:pruritus (major feature)

•

en:pruritus in affected areas

•

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

•

en:pterygium

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:petechiae and purpura do not occur

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:papillomatosis

•

en:muscle weakness (in 90% of patients)

•

en:muscle biopsy shows small nerve terminals

•

en:muscle fibers contain internal nuclei

•

en:muscle hematoma

•

en:muscle wasting, progressive

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle weakness, severe, proximal and distal

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness may affect upper limbs

•

en:palmoplantar keratoderma, diffuse (in some patients)

•

en:myopathy, mild to severe

•

en:normal scarring

•

en:no scarring

•

en:occasional cafe-au-lait spots

•

en:oily skin

•

en:onset of lymphedema around puberty

•

en:orthokeratosis

•

en:palmoplantar hyperlinearity, marked

•

en:purpuric rash

•

en:amyotrophy, distal, upper and lower limbs

•

en:rash erythematous

•

en:skin cell

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

en:variable number of lesions (1 to greater than 10)

•

en:vitiligo

•

en:vitiligo (rare)

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:wrinkly skin (13 of 22)

•

en:neck skin

•

en:skin of left lower limb

•

en:reduced subcutaneous adipose tissue

•

en:ubiquinone decreased

•

en:dermatophytosis

•

en:dyshidrosis [pompholyx]

•

en:molluscum contagiosum

•

en:2. yellowish, flat plaques

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:absence of dermopathy

•

en:absent-mild skin hyperextensibility

•

en:absent dermal ridges

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:type ii fiber predominance

•

en:rash scaly

•

en:skin hyperpigmentation

•

en:red-ragged fibers (2p21del)

•

en:reddish discoloration, episodic, associated with pain

•

en:redundant skin in infancy

•

en:replacement of affected muscle tissue with fatty tissue

•

en:self-healing collodion baby (in some patients)

•

en:shortening of various muscle-tendon groups in feet

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:skin changes worse in areas of lower skin temperature

•

en:slow-healing wounds due to painless injuries

•

en:tumors leave pitting scars

•

en:soft, thin skin (1 family)

•

en:sparing of anterior tibialis muscle

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

en:subcutaneous spheroids

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:swelling of the affected areas

•

en:thickened skin over the elbows and along the fingers

•

en:transient, migratory sharply outlined erythema (in some patients)

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:dry, stiff skin

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

en:decreased activities of mitochondrial complexes i, iii, and iv

•

en:complex v deficiency

•

en:congenital absence of skin in areas

•

en:contractures of upper limbs (in some patients)

•

en:cutaneous folliculitis

•

en:cutis marmorata (in some patients)

•

en:cysts may become infected (15%)

•

en:decreased ability to run

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:cellulitis

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased histidase activity

•

en:decreased mtdna

•

en:delayed ambulation

•

en:denuded postsynaptic regions

•

en:dependent edema after excess fat has been present for several years

•

en:difficulty in toe walking

•

en:difficulty walking and climbing stairs

•

en:collodion membrane at birth

•

en:candida diaper dermatitis

•

en:dorsal and flexor muscles of the forearm are involved

•

en:acrodermatitis enteropathica, transient, seen in breastfed offspring of affected mothers

•

en:ankle reflex absent

•

en:skin of the upper limb and shoulder

•

en:bruise/contusion intact skin

•

en:hemangiomas and lymphangiomas of any site

•

en:pilonidal cyst/fistula

•

en:abnormal aggregates of desmin and filamin c

•

en:accumulation of melanosomes in melanocytes

•

en:acrocyanosis

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:calf pseudohypertrophy rare

•

en:anhidrosis

•

en:atrophic muscle fibers

•

en:atrophy of type 1 and type 2 fibers

•

en:attacks of weakness

•

en:axial hypotonia (in some patients)

•

en:axillary apocrine gland hypoplasia

•

en:axillary pterygia

•

en:bridge between vertical and transverse proximal palmar flexion creases

•

en:calcinosis cutis metastatica

•

en:distal muscle atrophy due to neurologic disease

•

en:draining sinuses (late complication)

•

en:muscle atrophy, limb-girdle and proximal

•

en:lack of perspiration

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:increased lipid

•

en:increased muscle tone at birth

•

en:increased visceral fat

•

en:inguinal hernia

•

en:intolerant of heat

•

en:jaundice (in some patients), resolved postpartum

•

en:keratoatrophoderma

•

en:loose, elastic skin

•

en:hypotonia, generalized (in some patients)

•

en:loss of subcutaneous fat, generalized

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:mature adipocytes

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:minipolymyoclonus

•

en:mtdna depletion seen on muscle biopsy

•

en:muscle atrophy

•

en:hypotonia, mild

•

en:hypoplasia of serratus anterior muscle

•

en:dystrophic changes seen on muscle biopsy

•

en:fatty replacement

•

en:ectodermal dystrophy

•

en:electron microscopy showed z-disk streaming

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:epidermolysis bullosa simplex

•

en:episodic hyperhidrosis

•

en:erythematous papular skin eruption (infancy)

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:fasciculations (in some patients)

•

en:finger subcutaneous nodule

•

en:hypohidrosis (in some patients)

•

en:focal dermal aplasia/hypoplasia

•

en:follicular atrophoderma

•

en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects

•

en:generalized muscle hypertrophy

•

en:gluteus maximus and thigh adductors most affected

•

en:hyperhidrosis occurs during pain episodes

•

en:hyperkeratosis of skin at nipples and umbilicus

•

en:hyperkeratotic plaques on anterior knee area (in some patients)

•

en:hyperpigmented patches (in some patients)

•

en:angiomatous lesions on the fingers, persistent

•

en:lack of epidermal ridges on palms and soles

•

en:aplasia cutis congenita

•

en:necrotic change

•

en:muscle weakness, severe

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness and atrophy, distal

•

en:muscular dystrophy (in some patients)

•

en:myofibrillar lesions

•

en:myopathic changes early in disease seen on emg

•

en:myopathic pattern seen on emg (in some patients)

•

en:myositis (in some patients)

•

en:neonatal acral blistering

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:normal skin (no palmoplantar keratoderma)

•

en:no inflammatory or bullous skin lesions

•

en:no mucosal vesicles

•

en:nuclear clumps

•

en:numerous 'confetti-like' scattered patches of normal skin

•

en:pachyderma

•

en:palmar pit

•

en:palmar wrinkling

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:muscle weakness, limb-girdle, mild

•

en:papillomatosis, confluent centrally, erythematous turning brown later

•

en:bathing suit distribution of ichthyosis (in some patients)

•

en:mitochondrial dna deletion (1 patient)

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:mitochondrial paracrystalline inclusion bodies

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mottled pigmentation of the trunk and proximal extremities

•

en:mucosal lesions affecting all regions (i.e., oral, nasal, vaginal, anal, bladder, conjunctival regions)

•

en:multi-core congenital myopathy

•

en:muscle aches, intermittent

•

en:muscle weakness, distal (in some patients)

•

en:muscle atrophy in the limbs

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows neurogenic changes

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle cramps at rest

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle pain after exercise

•

en:muscle pain and cramps following exercise

•

en:palmoplantar keratosis with erythema and scale

•

en:pityriasis alba

•

en:mild diffuse ichthyosis

•

en:urticaria pigmentosa/maculopapular cutaneous mastocytosis

•

en:taunt skin

•

en:thin, translucent skin

•

en:tight, rigid skin

•

en:tuberous xanthoma

•

en:tumors undergo spontaneous resolution over a period of months

•

en:ulcers, distal, due to sensory neuropathy

•

en:unprovoked bruising

•

en:upper limb muscle hypoplasia

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:spotted and reticulate pigmentation of flexural areas of skin

•

en:vacuolar myopathy may occur

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:wasted lower leg muscles

•

en:well-circumscribed areas of nontender denuded skin on extremities

•

en:well-defined erythematous border

•

en:xerosis (buttocks, extensor surfaces of extremities)

•

en:z-band streaming

•

en:skin of left upper limb

•

en:stiffness

•

en:spontaneous, non-scarring healing

•

en:poor head control in infancy

•

en:proximal muscle weakness, limb-girdle distribution

•

en:poor muscle mass

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:presynaptic defect at the neuromuscular junction

•

en:pretibial pigmented granulomatous plaques

•

en:progressive distal muscle weakness

•

en:progressive reticulate hyperpigmentation (axillae, groin, perineal, perianal)

•

en:proximal amyotrophy

•

en:proximal and distal muscle atrophy in lower limbs

•

en:pruritus (inflammatory type b)

•

en:slow motor responses to sudden events (i.e., falling)

•

en:pterygium of elbow, bilateral (in some patients)

•

en:rash, episodic

•

en:rash (erythematous macules or papules)

•

en:recurrent skin ulcerations (face, trunk, limbs)

•

en:sclerosis of digits (in some patients)

•

en:secondary loss of sarcolemmal caveolin-3

•

en:shiny, taut, erythematous skin

•

en:shoulder girdle muscle atrophy

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:mild lamellar ichthyosis

•

en:muscles have a woody consistency on palpation

•

en:mild cutaneous changes

•

en:distal painless ulcers

•

en:dimple overlying knee

•

en:distal atrophy of the legs

•

en:distal limb muscle atrophy (less common)

•

en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal muscle atrophy, affecting the lower limbs

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:marked lack of adipose tissue

•

en:dimples (medial and lateral aspect of lower leg)

•

en:dystrophic changes on biopsy

•

en:early freckle-like lesions in exposed areas

•

en:easily fatigued (finding)

•

en:edema at birth

•

en:electromyogram normal

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:emg shows myopathic features

•

en:dimples overlying contractures

•

en:dermatitis acidemica

•

en:erythematous skin blotching

•

en:cutis laxa (infancy)

•

en:bilateral foot drop

•

en:blistering, generalized, neonatal onset

•

en:cafe-noir spots (trunk)

•

en:centralized myonuclei

•

en:chronic weakness

•

en:coarse, thick skin (especially upper face and scalp)

•

en:congenital muscular dystrophy (disorder)

•

en:contractures of distal lower limbs

•

en:cytochrome-c oxidase deficiency

•

en:dependent acrocyanosis

•

en:decreased activity of respiratory complex i+iii

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased cytochrome c oxidase activity

•

en:decreased density of calcium release units

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:deep finger muscle weakness

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:erysipelas

•

en:distal weakness, upper and lower limbs (variable)

•

en:erythroderma

•

en:erythroderma, patchy, on cheeks and chin (1/4 patients)

•

en:hypotrophy of type 1 fibers

•

en:inability to stand on tiptoes

•

en:increased mast cells

•

en:increased muscle tone in the lower limbs

•

en:infantile axial hypotonia

•

en:intercrural pterygium

•

en:islands of uninvolved skin

•

en:isolated necrotic fibers

•

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

•

en:hypotonia, infantile, severe

•

en:lesions follow the lines of blaschko

•

en:lipoatrophy of trunk

•

en:lipofibroma

•

en:localized cutaneous necrobiosis lipoidica

•

en:loss of facial adipose tissue

•

en:lower limb atrophy

•

en:lower limb muscle hypotrophy

•

en:malar flush

•

en:hypotonia at birth

•

en:keloid

•

en:hyporeflexia or areflexia

•

en:generalized weakness (adult-onset)

•

en:hypopigmented skin patches on arms (vitiligo)

•

en:facial angiofibroma (adenoma sebaceum)

•

en:facial muscle atrophy

•

en:fine whitish scales (rare)

•

en:flares of erythema, scaling, and pustules

•

en:focal friction-related palmoplantar hyperkeratosis

•

en:fragile skin

•

en:generalized bronze hyperpigmentation (present at birth)

•

en:folliculitis

•

en:giant pigmented hairy nevus, often in lumbosacral distribution hair may not be present

•

en:gowers sign

•

en:hangrip myotonia

•

en:hemangioma

•

en:hip abductor weakness and atrophy

•

en:hyperkeratosis pilaris may occur

•

en:hyperpigmented rim with long fine hairs encircling the lesions (in some patients)

•

en:hypertrophic scar

•

en:gilbert syndrome

•

en:hypoglycosylation of alpha-dystroglycan

•

en:subcutaneous ossifications

•

en:tanning possible

•

en:suppurative scalp nodules

•

en:subcutaneous tumors, recurring

•

en:skin pigmentation - finding

•

en:spotty hypopigmentation

•

en:skin tags on palms (in some patients)

•

en:skin tags on chest

•

en:telangiectasia, particularly of the fingerpads and lips

•

en:telangiectases in sun-exposed and nonexposed skin

•

en:weakness of all intrinsic hand muscles (later)

•

en:thin, velvety skin

•

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

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:type 1 muscle fiber predominance

•

en:type 2 fiber hypertrophy

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:uterine muscle may be stiff during pregnancy

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:velvety, smooth skin

•

en:vesicular lesions, congenital bilateral, between ear and corner of mouth

•

en:wrinkled face

•

en:skin peeling/scaling (newborn)

◀

Génériques

[F] [H]

›

en:abnormal

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6832458 • caches: c1=12 c2=1009 c3=1

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]