Dermatology Book



Aka: Ichthyosis, Lamellar Ichthyosis, Congenital Ichthyosis, Congenital Ichthyosiform Erythroderma, Epidermolytic Hyperkeratosis, X-Linked Ichthyosis, Ichthyosis Vulgaris
  1. See Also
    1. Xerotic Eczema
    2. Eczematous Dermatitis
    3. Dyshidrotic Eczema
  2. Causes
    1. Hereditary Disease
      1. Ichthyosis Vulgaris
      2. X-Linked Ichthyosis
      3. Refsum's Syndrome
        1. Hereditary mental deficiency
        2. Spastic paralysis
    2. Congenital disease
      1. Lamellar Ichthyosis (Non-bullous)
      2. Epidermolytic Hyperkeratosis (Bullous)
    3. Sjogren-Larsson Syndrome
    4. Leprosy
    5. Hypothyroidism
    6. AIDS
  3. Pathophysiology
    1. Dysfunctional sweating and oil secretion
  4. Symptoms
    1. Skin dryness (worse in winter)
    2. Failed sweating
  5. Signs
    1. Skin changes
      1. Dry and brittle
      2. Cracked, thickened, and Scaling
    2. No sweating or oil secretion
  6. Management
    1. See Dry Skin Management
  7. Resources
    1. Icthyosis Information
    2. First Foundation for Icthyosis

Congenital ichthyosis (C0020758)

Definition (CSP) skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis that exist at, and usually before, birth regardless of their causation; most ichthyoses are genetically determined.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D017490
ICD9 757.1
ICD10 Q80, Q80.9
SnomedCT 205547001, 268355000, 157017000, 268283000, 205556009, 13059002
English Congenital ichthyosis unspec., Congenital ichthyosis, unspecified, Ichthyosis congenita NOS, ichthyosis congenita, ichthyosis, fish skin, congenital ichthyosis (diagnosis), congenital ichthyosis, ichthyosis congenital, Congenita Is, Ichthyosis, Lamellar Ichthyosis, Type 1, Ichthyosis Congenita, Newborn Lamellar Exfoliations, Lamellar Exfoliation of Newborn, Ichthyosis, Lamellar, 1, Is, Ichthyosis Congenita, Newborn Lamellar Exfoliation, Ichthyosis Congenita I, Congenita, Ichthyosis, Ichthyosis Congenita Is, Congenita I, Ichthyosis, Congenitas, Ichthyosis, I, Ichthyosis Congenita, Ichthyosis Congenitas, Congenital ichthyosis, unspecified (disorder), Ichthyosis congenita NOS (disorder), Ichthyosis, Ichthyosis congenita, Fish scale disease, Congenital ichthyosis of skin (disorder), Congenital ichthyosis of skin, Fish skin, disease (or disorder); fish-skin, fish-skin, Congenital ichthyosis, Congenital ichthyosis of skin, NOS, Fish skin, NOS, Ichthyosis, NOS, Ichthyosis congenital
Dutch ichthyosis congenita, ichtyose, congenitaal, congenitale ichthyosis, aandoening; vissenhuid, vissenhuid; aandoening, Congenitale ichthyose, niet gespecificeerd, Congenitale ichthyose
French Ichtyose congénitale, Ichthyose congénitale
German kongenitale Ichthyose, Ichthyosis kongenital, Ichthyosis congenita, Ichthyosis congenita, nicht naeher bezeichnet
Italian Ittiosi congenita
Portuguese Ictiose congénita
Spanish Ictiosis congénita, ictiosis congénita, SAI, ictiosis congénita, no especificada, ictiosis congénita, SAI (trastorno), ictiosis congénita, no especificada (trastorno), enfermedad de la escama de pescado, ictiosis congénita de la piel (trastorno), ictiosis congénita de la piel, ictiosis congénita, ictiosis, piel de pescado
Japanese 先天性魚鱗癬症, 先天性魚鱗癬, センテンセイギョリンセン, センテンセイギョリンセンショウ
Czech Ichtyosis congenita, Vrozená ichtyóza, kongenitální ichtyóza
Korean 선천 비늘증, 상세불명의 선천 비늘증
Hungarian Ichthyosis congenita, Veleszületett ichthyosis
Derived from the NIH UMLS (Unified Medical Language System)

Hyperkeratosis, Epidermolytic (C0079153)

Definition (NCI) An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.
Definition (MSH) A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D017488
ICD10 Q80.3
SnomedCT 20512000, 239071005, 254167000
English Epidermolytic Hyperkeratoses, Erythroderma Ichthyosiforme, Bullous, Hyperkeratoses, Epidermolytic, Bullous Congenital Ichthyosiform Erythroderma, Congenital Bullous Ichthyosiform Erythroderma, Ichthyosiform Erythroderma, Bullous Congenital, Bull ichthyosform erythroderma, Congenital Ichthyosiform Erythroderma, Bullous, BULLOUS ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA, BCIE, BIE, EHK, ICHTHYOSIFORM ERYTHRODERMA BULLOUS CONGEN, CONGEN BULLOUS ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGEN ICHTHYOSIFORM ERYTHRODERMA, BIE - Bull ichthy erythroderma, Bullous Ichthyosiform Erythroderma Congenital, Bullous Erythroderma Ichthyosiformes, Ichthyosiforme, Bullous Erythroderma, Erythroderma Ichthyosiformes, Bullous, Ichthyosiformes, Bullous Erythroderma, BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ, EPIDERMOLYTIC HYPERKERATOSIS, Hyperkeratosis, Epidermolytic [Disease/Finding], epidermolytic hyperkeratosis, EPIDERMOLYTIC ICHTHYOSIS, Bullous Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiformis Congenita of Brocq, Erythrodermas, Bullous Ichthyosiform, Ichthyosiform Erythroderma, Bullous, Bullous Ichthyosiform Erythrodermas, Erythroderma, Bullous Ichthyosiform, Ichthyosiform Erythrodermas, Bullous, Epidermolytic Hyperkeratosis, congenital bullous ichthyosiform erythroderma (diagnosis), Hyperkeratosis, Epidermolytic, Bullous Erythroderma Ichthyosiforme, Epidermolytic Ichthyosis, Congenital bullous ichthyosiform erythroderma, Epidermolytic hyperkeratosis, Epidermolytic palmoplantar hyperkeratosis, Bullous ichthyosiform erythroderma, BIE - Bullous ichthyosiform erythroderma, Bullous ichthyosiform erythroderma (disorder), erythema; ichthyosiforme congenitum bullosum, ichthyosiforme congenitum bullosum; erythema
Dutch bulleuze ichthyosiforme erythroderma, epidermolytische hyperkeratosis, erytheem; ichthyosiforme congenitum bullosum, ichthyosiforme congenitum bullosum; erytheem, Congenitale bulleuze ichthyosiforme erytrodermie, Epidermolytische hyperkeratosis, Erytrodermie, bulleuze ichthyosiforme, Hyperkeratosis, epidermolytische, Ichthyosiforme bulleuze erytrodermie
French Erythrodermie ichthyosiforme bulleuse, Érythrodermie ichtyosiforme bulleuse, Hyperkératose épidermolytique, Érythrodermie ichtyosiforme congénitale bulleuse
German epidermolytische Hyperkeratose, bulloese ichthyotische Erythrodermie, Bulloese kongenitale ichthyosiforme Erythrodermie, Hyperkeratose, epidermolytische, Erythroderma ichthyosiforme, bullöses, Ichthyosiforme Erythrodermie, bullöse kongenitale
Italian Eritroderma ittiosiforme bolloso, Eritoderma ittiosiforme bolloso congenito, Eritoderma ittiosiforme bolloso, Ipercheratosi epidermolitica
Portuguese Hiperqueratose epidermolítica, Eritrodermite bolhosa ictiosiforme, Eritrodermia Ictiosiforme Bolhosa Congênita, Eritrodermia Ictiosiforme Bolhosa, Hiperceratose Epidermolítica
Spanish Eritrodermia ictiosiforme ampolloso, Hiperqueratosis epidermolítica, eritrodermia ictiosiforme bullosa (trastorno), eritrodermia ictiosiforme bullosa congénita, eritrodermia ictiosiforme bullosa, hiperqueratosis epidermolítica, Eritrodermia Ictiosiforme Bullosa Congénita, Eritrodermia Ictiosiforme Bullosa, Hiperqueratosis Epidermolítica
Japanese 表皮溶解性角化症, スイホウセイギョリンセンヨウコウヒショウ, ヒョウヒヨウカイセイカクカショウ, ヒョウヒヨウカイセイカッカショウ, 角化症-表皮剥離性, 水疱型先天性魚鱗癬様紅皮症, 水疱型魚鱗癬様紅皮症, 水疱性先天性魚鱗癬様紅皮症, 水疱性魚鱗癬様紅皮症, 表皮剥離性角化症, 表皮剥離性角質増殖症, 魚鱗癬様紅皮症-水疱型, 魚鱗癬様紅皮症-水疱型先天性, 魚鱗癬様紅皮症-水疱性, 魚鱗癬様紅皮症-水疱性先天性
Swedish Hyperkeratos, epidermolytisk
Czech erythrodermia ichthyosiformis bullosa congenitalis, erythrodermia ichthyosiformis bullosa, hyperkeratóza epidermolytická, Bulózní ichthyosiformní erytrodermie, Epidermolytická hyperkeratóza
Finnish Epidermolyyttinen hyperkeratoosi
Korean 선천 수포성 비늘증성 홍색피부증
Polish Erytrodermia pęcherzowa ichtiotyczna wrodzona, Erytrodermia ichtiotyczna pęcherzowa
Hungarian Epidermolytic hyperkeratosis, Bullosus ichthyosiform erythroderma
Norwegian Medfødt bulløs iktyosiform erytrodermi, Epidermolytisk hyperkeratose
Derived from the NIH UMLS (Unified Medical Language System)

Congenital Nonbullous Ichthyosiform Erythroderma (C0079154)

Definition (NCI) A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn. This membrane sheds in about two weeks after birth to reveal generalized scaling and skin erythema.
Definition (MSH) A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Concepts Congenital Abnormality (T019)
MSH D017490
ICD10 Q80.2
SnomedCT 205550003, 267372009, 268245001, 35970001, 12215009
English Erythroderma Ichthyosiforme, Nonbullous, Ichthyosis, Lamellar, Nonbullous Erythroderma Ichthyosiforme, Nonbullous Congenital Ichthyosiform Erythroderma, Ichthyosiform Erythroderma, Nonbullous Congenital, CONGEN NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGEN ICHTHYOSIFORM ERYTHRODERMA, ICHTHYOSIFORM ERYTHRODERMA NONBULLOUS CONGEN, Congenital ichthyosis, Ichthyosiforme, Nonbullous Erythroderma, Ichthyosiformes, Nonbullous Erythroderma, Nonbullous Erythroderma Ichthyosiformes, Congenital Ichthyosiform Erythroderma, Nonbullous, Nonbullous Congenital Lamellar Ichthyosis, Erythroderma Ichthyosiformes, Nonbullous, Congenital Nonbullous Ichthyosiform Erythroderma, Ichthyosis, Lamellar [Disease/Finding], congenital ichthyosis, lamellar ichthyosis, ichthyosis lamellar, Lamellar ichthyosis (diagnosis), Ichthyosis, congenital, Nonbullous congenital ichthyosiform erythroderma, Lamellar Ichthyosis, Lamellar Ichthyoses, Ichthyoses, Lamellar, Lamellar Ichthyose, Ichthyose, Lamellar, Collodion baby, Congenital non bullous ichthyosiform erythroderma, Lamellar desquamation of the newborn, Lamellar ichthyosis, Congenital non bullous ichthyosiform erythroderma (disorder), Lamellar ichthyosis (disorder), collodion baby, ichthyosis; lamellar, lamellar; ichthyosis
Dutch lamellaire ichthyosis, collodiumbaby, ichthyose; lamellair, lamellair; ichthyose, Erythroderma ichthyosiforme, niet-bulleus, Ichthyose, lamellaire, Ichthyosiforme erythroderma, non-bulleuze, congenitale, Lamellaire ichthyose
French Ichthyose lamellaire, Érythrodermie ichtyosiforme non bulleuse, Ichtyose lamellaire, Érythrodermie ichtyosiforme congénitale non bulleuse, Bébé collodion
German lamellaere Ichthyosis, Lamellaere Ichthyosis, Collodium-Baby, Erythrodermie, ichthyosiforme, nichtbullöse, Ichthyose, lamelläre, Ichthyosiforme Erythrodermie, nichtbullöse, kongenitale
Portuguese Ictiose lamelar, Bebé colódio, Eritrodermia Ictiosiforme não-Bolhosa Congênita, Eritrodermia Ictiosiforme não-Bolhosa, Ictiose Lamelar
Spanish Ictiosis lamelar, ictiosis lamelar (trastorno), ictiosis laminar (trastorno), ictiosis laminar, ictiosis congénita, feto de arlequín (trastorno), feto de arlequín, bebé colodiano, descamación laminillar del recién nacido, ictiosis lamelar, eritrodermia ictiosiforme no bullosa congénita, Descamación laminar del recién nacido, bebe colodión, descamación lamelar del neonato, eritrodermia ictiosiforme bullosa no congénita (trastorno), eritrodermia ictiosiforme bullosa no congénita, feto de arlequín (concepto no activo), Eritrodermia Ictiosiforme no Bullosa Congénita, Eritrodermia Ictiosiforme no Bullosa, Ictiosis Lamelar
Swedish Iktyos, lamellär
Japanese ソウジョウギョリンセン, 魚鱗癬様紅皮症-非水疱性先天性, 葉状魚鱗癬, 魚鱗癬様紅皮症-非水疱性, 非水疱性魚鱗癬様紅皮症, 層状魚鱗癬, 非水疱型先天性魚鱗癬様紅皮症, 非水疱性先天性魚鱗癬様紅皮症, 魚鱗癬-層状, 魚鱗癬-葉状, コロジオンベイビー, コロジオンベイビー
Czech ichtyóza lamelární, erythrodermia ichthyosiformis nonbullosa, erythrodermia ichthyosiformis nonbullosa congenitalis, Lamelární ichtyóza, Syndrom koloidního novorozence
Finnish Lamellaarinen kalansuomutauti
Italian Eritrodermia ittiosiforme non bollosa, Eritrodermia congenita ittiosiforme non bollosa, Ittiosi lamellare neonatale, Ittiosi lamellare
Korean 층판성 비늘증
Polish Erytrodermia ichtiotyczna bezpęcherzowa, Rybia łuska blaszkowata, Erytrodermia ichtiotyczna bezpęcherzowa wrodzona
Hungarian Lamelláris ichthyosis, ((collodion)) csecsemő
Norwegian Lammelær iktyose, Medfødt ikke-bulløs iktyosiform erytrodermi
Derived from the NIH UMLS (Unified Medical Language System)

Ichthyosis Vulgaris (C0079584)

Definition (NCI) The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.
Definition (MSH) Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D016112
ICD10 Q80.0
SnomedCT 205551004, 254157005, 20512000
English Dominant Ichthyosis Vulgaris, Ichthyosis Vulgaris, Dominant, ICHTHYOSIS SIMPLEX, ICHTHYOSIS VULGARIS, ichthyosis vulgaris (diagnosis), ichthyosis vulgaris, Ichthyosis Vulgaris [Disease/Finding], Ichthyosis Simplex, Ichthyosis Simplices, Ichthyosis vulgaris, Dominant congenital ichthyosiform erythroderma, Dominant ichthyosis vulgaris, Dominant congenital ichthyosiform erythroderma (disorder), Ichthyosis vulgaris (disorder), ichthyosis; simplex, ichthyosis; vulgaris, simplex; ichthyosis, vulgaris; ichthyosis, Ichthyosis Vulgaris
Dutch ichthyosis vulgaris, ichthyose; simplex, ichthyose; vulgaris, simplex; ichthyose, vulgaris; ichthyose, Ichthyosis vulgaris
Portuguese Ictiose vulgar, Ictiose Vulgar
Spanish Ictiosis vulgar, eritrodermia ictiosiforme congénita dominante (trastorno), eritrodermia ictiosiforme congénita dominante, ictiosis vulgar (trastorno), ictiosis vulgar dominante, ictiosis vulgaris, ictiosis vulgar, Ictiosis Vulgar
Swedish Fiskfjällssjuka
Japanese ジンジョウセイギョリンセン, 魚鱗癬-尋常性, 優性遺伝性尋常性魚鱗癬, 尋常性魚鱗癬, 尋常魚鱗癬
Czech ichthyosis vulgaris, Ichtyosis vulgaris
Finnish Yleinen kalansuomutauti
Korean 보통 비늘증
Polish Rybia łuska prosta, Rybia łuska zwykła
Hungarian Ichthyosis közönséges
Norwegian Dominant ichthyosis vulgaris, Ichthyosis simplex, Ichthyosis vulgaris
French Ichtyose simple, Ichtyose vulgaire, Ichtyose vulgaire autosomique dominante
German Ichthyosis vulgaris
Italian Ittiosi volgare
Derived from the NIH UMLS (Unified Medical Language System)

Ichthyosis, X-Linked (C0079588)

Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (CHV) sex linked inherited disease characterized by excessive scaling
Definition (NCI) The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin manifestations. The skin changes appear at birth and include keratinization and scaling.
Definition (MSH) Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Concepts Disease or Syndrome (T047)
MSH D016114
ICD10 Q80.1
SnomedCT 205552006, 254160003, 72523005, 402771003
English Ichthyoses, Sex-Linked, Ichthyoses, X-Linked, Ichthyosis, Sex Linked, Ichthyosis, Sex-Linked, Ichthyosis, X Linked, Ichthyosis, X-Linked, ICHTHYOSIS, X-LINKED, XRI - X-linked rec ichthyosis, XRI - X-linked recessive ichthyosis, XLI, Ichthyosis, X-linked, X-Linked Ichthyosis, Ichthyosis, X-Linked [Disease/Finding], x-linked ichthyosis, x-linked recessive ichthyosis, sts, ssdd, x linked ichthyosis, X-linked ichthyosis (STS, SSDD), ichthyosis x-linked, X-linked ichthyosis (diagnosis), ichthyosis x-linked with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency (diagnosis), Sex-linked ichthyosis, X-linked ichthyosis, X-linked recessive ichthyosis, X-linked ichthyosis with steryl-sulfatase deficiency (disorder), X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulphatase deficiency, X-linked recessive ichthyosis (disorder), X-linked; ichthyosis, ichthyosis; X-linked, X-linked recessive ichthyosis [Ambiguous]
Dutch X-gebonden ichthyosis, X-gebonden; ichthyose, ichthyose; X-gebonden, Ichthyose, X-gebonden, X-gebonden ichthyose
French Ichthyose liée à l'X, Ichtyose liée à l'X, Ichtyose liée au chromosome X, Ichtyose liée au sexe
German X-chromosal-rezessive Ichthyose, X-chromosomal-rezessive Ichthyosis, Ichthyose, X-chromosomal-gebundene, Ichthyose, geschlechtsgebundene
Portuguese Ictiose ligada ao cromossoma X, Doenças da Deficiência de Esteroide-Sulfatase, Ictiose Ligada ao Cromossomo X, Ictiose Ligada ao Sexo
Spanish Ictiosis ligada al cromosoma X, Enfermedad de la Deficiencia de Esteroide-Sulfatasa, ictiosis ligada al sexo (trastorno), ictiosis ligada al sexo, ictiosis recesiva relacionada con el cromosoma X (trastorno), ictiosis recesiva relacionada con el cromosoma X, Ictiosis Ligada al Cromosoma X, Ictiosis Ligada al Sexo
Japanese X−連鎖型魚鱗癬, Xレンサガタギョリンセン, 魚鱗癬-伴性遺伝性, X染色体関連魚鱗症, X染色体性魚鱗癬, X染色体連関魚鱗癬, X染色体関連魚鱗癬, 伴性遺伝性魚鱗癬, 伴性魚鱗癬, 魚鱗症-X染色体連関, 魚鱗癬-X染色体関連, 魚鱗症-X染色体関連, 魚鱗癬-X染色体性
Swedish Iktyos, X-bunden
Czech ichtyóza vázaná na chromozóm X, X-vázaná ichtyóza
Finnish X-kromosomissa periytyvä kalansuomutauti
Italian Ittiosi legata al sesso, Ittiosi legata al cromosoma X
Korean 반성 비늘증
Polish Rybia łuska sprzężona z płcią, Rybia łuska sprzężona z chromosomem X
Hungarian X-linked ichthyosis
Norwegian X-bundet iktyose, Kjønnsbundet iktyose
Derived from the NIH UMLS (Unified Medical Language System)

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