Skin Diseases
Aagenaes syndrome
Aarskog syndrome
Abdominal chemodectomas with cutaneous angiolipomas
Absence of fingerprints congenital milia
Acanthosis nigricans - Not a rare disease
Ackerman syndrome
Acquired generalized lipodystrophy
Acral peeling skin syndrome
Acrodermatitis
Acrodermatitis enteropathica
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Actinic lichen planus
Acute febrile neutrophilic dermatosis
Acute intermittent porphyria
Adams-Oliver syndrome
Adiposis dolorosa
ADULT syndrome
Adult T-cell leukemia/lymphoma
Ainhum
Al-Gazali-Donnai-Mueller syndrome
Albinism deafness syndrome
Alkaptonuria
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia totalis - Not a rare disease
Alopecia universalis
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Ambras syndrome
Ameloonychohypohidrotic syndrome
Aminolevulinate dehydratase deficiency porphyria
Amyopathic dermatomyositis
Angioma serpiginosum, autosomal dominant
Angioma serpiginosum, X-linked
Annular atrophic lichen planus
Annular lichen planus
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Antecubital pterygium
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
AREDYLD
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Ataxia telangiectasia
Atrophic lichen planus
Atrophoderma of Pierini and Pasini
Atrophoderma vermiculata
Autoimmune progesterone dermatitis
Autosomal dominant café au lait spots
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Bannayan-Riley-Ruvalcaba syndrome
Barber Say syndrome
Barraquer-Simons syndrome
Basaran Yilmaz syndrome
Bazex-Dupre-Christol syndrome
Beare-Stevenson cutis gyrata syndrome
Becker nevus syndrome
Becker's nevus
Behçet disease
Benign eccrine spiradenoma
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
Bloom syndrome
Blue rubber bleb nevus syndrome
Book syndrome
Bork Stender Schmidt syndrome
Brittle cornea syndrome
Brunsting-Perry syndrome
Bullous dystrophy hereditary macular type
Buschke Ollendorff syndrome
Cafe au lait spots, multiple
Campomelia Cumming type
Candidiasis familial chronic mucocutaneous, autosomal recessive
Cantu syndrome
Cardiac-Valvular Ehlers-Danlos syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy dilated with woolly hair and keratoderma
Carney complex
Cartilage-hair hypoplasia
Cerebellar ataxia ectodermal dysplasia
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrotendinous xanthomatosis
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
CHILD syndrome
Chorea-acanthocytosis
Chromhidrosis
Chromosome 17q11.2 deletion syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic granulomatous disease
Chronic mucocutaneous candidiasis (CMC) - Not a rare disease
Chronic recurrent multifocal osteomyelitis
Cicatricial pemphigoid
Circumferential skin creases Kunze type
Classical-like Ehlers-Danlos syndrome
Clouston syndrome
CLOVES syndrome
Cobb syndrome
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
COG7-CDG (CDG-IIe)
Combined immunodeficiency with skin granulomas
Congenital erythropoietic porphyria
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 4
Corneodermatoosseous syndrome
Corticosteroid-sensitive aseptic abscesses
Costello syndrome
Cowden syndrome
Crandall syndrome
Cranioectodermal dysplasia
CREST syndrome
Cronkhite-Canada disease
Cutaneous collagenous vasculopathy
Cutaneous mastocytoma
Cutaneous polyarteritis nodosa
Cutaneous sclerosis
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Dahlberg Borer Newcomer syndrome
Darier disease
Deafness conductive ptosis skeletal anomalies
Deafness enamel hypoplasia nail defects
Deafness-lymphedema-leukemia syndrome
Deficiency of interleukin-1 receptor antagonist
Degos 'en cocarde' erythrokeratoderma
Degos disease
Dermal eccrine cylindroma
Dermatitis herpetiformis
Dermatofibroma - Not a rare disease
Dermatofibrosarcoma protuberans
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Diffuse cutaneous systemic sclerosis
Diffuse dermal angiomatosis
Disseminated superficial actinic porokeratosis
DOLK-CDG (CDG-Im)
Dominant dystrophic epidermolysis bullosa
DOOR syndrome
Dowling-Degos disease
Dubowitz syndrome
Dykes Markes Harper syndrome
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dystrophic epidermolysis bullosa
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Ectropion inferior cleft lip and or palate
EEC syndrome
EEM syndrome
Ehlers-Danlos syndrome, dysfibronectinemic type
Elastoderma
Elastosis perforans serpiginosa
Ellis-Van Creveld syndrome
Encephalocraniocutaneous lipomatosis
Eosinophilic pustular folliculitis
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, generalized
Epidermolysis bullosa simplex, localized
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Erdheim-Chester disease
Erythema elevatum diutinum
Erythema multiforme
Erythema nodosum, idiopathic
Erythroderma lethal congenital
Erythrokeratodermia variabilis et progressiva
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Extranodal nasal NK/T cell lymphoma
Fabry disease
Facial ectodermal dysplasia
Familial atypical multiple mole melanoma syndrome - Not a rare disease
Familial cold autoinflammatory syndrome
Familial cutaneous collagenoma
Familial cylindromatosis
Familial dermographism
Familial Dupuytren contracture - Not a rare disease
Familial dysautonomia
Familial joint instability syndrome
Familial multiple lipomatosis
Familial multiple trichodiscomas
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial reactive perforating collagenosis
Fanconi anemia
Farber's disease
Febrile Ulceronecrotic Mucha-Habermann disease
Fibrodysplasia ossificans progressiva
Flynn Aird syndrome
Focal dermal hypoplasia
Focal facial dermal dysplasia
Fox-Fordyce disease
Frontal fibrosing alopecia
Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
GAPO syndrome
Gardner syndrome
Gardner-Diamond syndrome
Gastrocutaneous syndrome
Gaucher disease perinatal lethal
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Generalized pustular psoriasis
Genuine diffuse phlebectasia
Geroderma osteodysplastica
Giant congenital nevus
Gingival fibromatosis with hypertrichosis
GM3 synthase deficiency
Gorlin Chaudhry Moss syndrome
Graham-Little-Piccardi-Lassueur syndrome
Granuloma annulare
Granulomatous rosacea
Granulomatous slack skin disease
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grover's disease - Not a rare disease
Guttate psoriasis
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Aarskog syndrome
Abdominal chemodectomas with cutaneous angiolipomas
Absence of fingerprints congenital milia
Acanthosis nigricans - Not a rare disease
Ackerman syndrome
Acquired generalized lipodystrophy
Acral peeling skin syndrome
Acrodermatitis
Acrodermatitis enteropathica
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Actinic lichen planus
Acute febrile neutrophilic dermatosis
Acute intermittent porphyria
Adams-Oliver syndrome
Adiposis dolorosa
ADULT syndrome
Adult T-cell leukemia/lymphoma
Ainhum
Al-Gazali-Donnai-Mueller syndrome
Albinism deafness syndrome
Alkaptonuria
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia totalis - Not a rare disease
Alopecia universalis
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Ambras syndrome
Ameloonychohypohidrotic syndrome
Aminolevulinate dehydratase deficiency porphyria
Amyopathic dermatomyositis
Angioma serpiginosum, autosomal dominant
Angioma serpiginosum, X-linked
Annular atrophic lichen planus
Annular lichen planus
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Antecubital pterygium
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
AREDYLD
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Ataxia telangiectasia
Atrophic lichen planus
Atrophoderma of Pierini and Pasini
Atrophoderma vermiculata
Autoimmune progesterone dermatitis
Autosomal dominant café au lait spots
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Bannayan-Riley-Ruvalcaba syndrome
Barber Say syndrome
Barraquer-Simons syndrome
Basaran Yilmaz syndrome
Bazex-Dupre-Christol syndrome
Beare-Stevenson cutis gyrata syndrome
Becker nevus syndrome
Becker's nevus
Behçet disease
Benign eccrine spiradenoma
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
Bloom syndrome
Blue rubber bleb nevus syndrome
Book syndrome
Bork Stender Schmidt syndrome
Brittle cornea syndrome
Brunsting-Perry syndrome
Bullous dystrophy hereditary macular type
Buschke Ollendorff syndrome
Cafe au lait spots, multiple
Campomelia Cumming type
Candidiasis familial chronic mucocutaneous, autosomal recessive
Cantu syndrome
Cardiac-Valvular Ehlers-Danlos syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy dilated with woolly hair and keratoderma
Carney complex
Cartilage-hair hypoplasia
Cerebellar ataxia ectodermal dysplasia
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrotendinous xanthomatosis
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
CHILD syndrome
Chorea-acanthocytosis
Chromhidrosis
Chromosome 17q11.2 deletion syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic granulomatous disease
Chronic mucocutaneous candidiasis (CMC) - Not a rare disease
Chronic recurrent multifocal osteomyelitis
Cicatricial pemphigoid
Circumferential skin creases Kunze type
Classical-like Ehlers-Danlos syndrome
Clouston syndrome
CLOVES syndrome
Cobb syndrome
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
COG7-CDG (CDG-IIe)
Combined immunodeficiency with skin granulomas
Congenital erythropoietic porphyria
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 4
Corneodermatoosseous syndrome
Corticosteroid-sensitive aseptic abscesses
Costello syndrome
Cowden syndrome
Crandall syndrome
Cranioectodermal dysplasia
CREST syndrome
Cronkhite-Canada disease
Cutaneous collagenous vasculopathy
Cutaneous mastocytoma
Cutaneous polyarteritis nodosa
Cutaneous sclerosis
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Dahlberg Borer Newcomer syndrome
Darier disease
Deafness conductive ptosis skeletal anomalies
Deafness enamel hypoplasia nail defects
Deafness-lymphedema-leukemia syndrome
Deficiency of interleukin-1 receptor antagonist
Degos 'en cocarde' erythrokeratoderma
Degos disease
Dermal eccrine cylindroma
Dermatitis herpetiformis
Dermatofibroma - Not a rare disease
Dermatofibrosarcoma protuberans
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Diffuse cutaneous systemic sclerosis
Diffuse dermal angiomatosis
Disseminated superficial actinic porokeratosis
DOLK-CDG (CDG-Im)
Dominant dystrophic epidermolysis bullosa
DOOR syndrome
Dowling-Degos disease
Dubowitz syndrome
Dykes Markes Harper syndrome
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dystrophic epidermolysis bullosa
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Ectropion inferior cleft lip and or palate
EEC syndrome
EEM syndrome
Ehlers-Danlos syndrome, dysfibronectinemic type
Elastoderma
Elastosis perforans serpiginosa
Ellis-Van Creveld syndrome
Encephalocraniocutaneous lipomatosis
Eosinophilic pustular folliculitis
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, generalized
Epidermolysis bullosa simplex, localized
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Erdheim-Chester disease
Erythema elevatum diutinum
Erythema multiforme
Erythema nodosum, idiopathic
Erythroderma lethal congenital
Erythrokeratodermia variabilis et progressiva
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Extranodal nasal NK/T cell lymphoma
Fabry disease
Facial ectodermal dysplasia
Familial atypical multiple mole melanoma syndrome - Not a rare disease
Familial cold autoinflammatory syndrome
Familial cutaneous collagenoma
Familial cylindromatosis
Familial dermographism
Familial Dupuytren contracture - Not a rare disease
Familial dysautonomia
Familial joint instability syndrome
Familial multiple lipomatosis
Familial multiple trichodiscomas
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial reactive perforating collagenosis
Fanconi anemia
Farber's disease
Febrile Ulceronecrotic Mucha-Habermann disease
Fibrodysplasia ossificans progressiva
Flynn Aird syndrome
Focal dermal hypoplasia
Focal facial dermal dysplasia
Fox-Fordyce disease
Frontal fibrosing alopecia
Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
GAPO syndrome
Gardner syndrome
Gardner-Diamond syndrome
Gastrocutaneous syndrome
Gaucher disease perinatal lethal
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Generalized pustular psoriasis
Genuine diffuse phlebectasia
Geroderma osteodysplastica
Giant congenital nevus
Gingival fibromatosis with hypertrichosis
GM3 synthase deficiency
Gorlin Chaudhry Moss syndrome
Graham-Little-Piccardi-Lassueur syndrome
Granuloma annulare
Granulomatous rosacea
Granulomatous slack skin disease
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grover's disease - Not a rare disease
Guttate psoriasis
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
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