Disease Browser
Parent Node: Ichthyosis (D007057) Parent Node: Skin Diseases, Genetic (D012873) ..Starting node .. Ichthyosiform Erythroderma, Congenital (D016113) Child Nodes:
........Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515) ........ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165) ........Hyperkeratosis, Epidermolytic (D017488) 2 ........Ichthyosis Congenita With Biliary Atresia (C562886) ........Ichthyosis, Lamellar (D017490) 8 ........Ketoadipicaciduria (C565453) ........Netherton Syndrome (D056770) ........Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560) Sister Nodes: ..Actinic Prurigo (C566780) ..Albinism (D000417) 30 ..Amyloidosis IX (C562643) ..Amyloidosis, Cutaneous Bullous (C562644) ..Amyloidosis, Primary Cutaneous (C562642) ..Annular Erythema (C562461) ..Arterial Tortuosity Syndrome (C565942) ..Atrophia Maculosa Varioliformis Cutis, Familial (C563349) ..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284) ..Buschke-Ollendorff syndrome (C537415) ..Collagenosis, Familial Reactive Perforating (C565687) ..Cutis Laxa (D003483) 17 ..Darier Disease (D007644) 7 ..Dermatitis, Atopic (D003876) 9 ..dowling-degos disease (C562924) ..Dyschromatosis universalis hereditaria (C535730) ..Dyschromatosis Universalis Hereditaria 1 (C567273) ..Dyschromatosis Universalis Hereditaria 2 (C567194) ..Dyskeratosis Congenita (D019871) 3 ..Ectodermal Dysplasia (D004476) 144 ..Ehlers-Danlos Syndrome (D004535) 23 ..Epidermolysis Bullosa (D004820) 29 ..Erythrokeratodermia Variabilis (D056266) 3 ..Erythrokeratodermia with ataxia (C535738) ..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309) ..Fingerprints, Absence of (C565010) ..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360) ..Gerodermia osteodysplastica (C537799) ..Hereditary Autoinflammatory Diseases (D056660) 10 ..Histiocytic Dermatoarthritis (C564183) ..Hyalinosis, Systemic (D057770) ..Hyaluronan Metabolism, Defect in (C565742) ..Ichthyosiform Erythroderma, Congenital (D016113) 18 ..Ichthyosis Bullosa of Siemens (D053560) ..Ichthyosis Vulgaris (D016112) 1 ..Ichthyosis, X-Linked (D016114) 2 ..Incontinentia Pigmenti (D007184) 2 ..Juvenile Spring Eruption of Ears (C566781) ..Keratoderma, Palmoplantar (D007645) 45 ..Keratolytic winter erythema (C536155) ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159) ..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600) ..Leukokeratosis, Hereditary Mucosal (D053529) ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440) ..Lipoid Proteinosis of Urbach and Wiethe (D008065) ..Monilethrix (D056734) 1 ..Muir-Torre Syndrome (D055653) ..Netherton Syndrome (D056770) ..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512) ..Oculotrichodysplasia (C564934) ..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506) ..Orofaciodigital syndrome 9 (C557818) ..Osseous Heteroplasia, Progressive (C562735) ..Osteopoikilosis, Isolated (C563484) ..Parana Hard Skin Syndrome (C564905) ..Peeling Skin Syndrome (C564818) ..Pemphigus, Benign Familial (D016506) ..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486) ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461) ..Plasminogen Deficiency, Type I (C566897) ..Poikiloderma, Hereditary Sclerosing (C562824) ..Porokeratosis (D017499) 7 ..Porphyria, Erythropoietic (D017092) ..Porphyrias, Hepatic (D017094) 14 ..Prolidase Deficiency (D056732) ..Pseudoxanthoma Elasticum (D011561) 2 ..Rothmund-Thomson Syndrome (D011038) 5 ..Sjogren-Larsson Syndrome (D016111) 1 ..Skin Fragility-Woolly Hair Syndrome (C564359) ..Stiff Skin Syndrome (C566112) ..Storm Syndrome (C566109) ..Trichothiodystrophy Syndromes (D054463) 5 ..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739) ..Vohwinkel Syndrome, Variant Form (C565826) ..Xeroderma Pigmentosum (D014983) 16 Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 5666
Name: Ichthyosiform Erythroderma, Congenital
Definition: Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.
Alternative IDs:
ParentIDs: MESH:D007057|MESH:D012873
TreeNumbers: C16.131.831.512.400 |C16.320.850.400 |C16.614.492.400 |C17.800.428.333.250 |C17.800.804.512.400 |C17.800.827.400
Synonyms: Congenital Ichthyosiform Erythroderma |Congenital Ichthyosiform Erythroderma, Dry Type |Congenital Ichthyosiform Erythrodermas |Congenital Ichthyosiform Erythroderma, Wet Type |Erythroderma, Congenital Ichthyosiform |Erythrodermas, Congenital Ichthyosiform |Ic
Slim Mappings: Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease
Reference:
MedGen: D016113
MeSH: D016113
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants