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Condition report · Dermatological

Inherited Ichthyosis

A group of inherited skin conditions in which the outer skin layer does not form or shed normally, causing persistent scaling, thickening or peeling. They include autosomal recessive congenital ichthyosis (including harlequin ichthyosis), X-linked ichthyosis, keratinopathic ichthyoses and peeling skin syndromes.

A condition report looks for rare variants known to cause the conditions it covers.

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Autosomal recessive congenital ichthyosis

Autozomálně recesivní

A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.

Co se diagnózou změní

Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.

Analyzované geny

Známé také jako

ARCI; autosomal recessive inherited ichthyosis; ichthyosis, congenital, autosomal recessive; inherited ichthyosis, autosomal recessive

Zahrnuje 23 příbuzných podtypů ↓
  • acral self-healing collodion baby
  • autosomal recessive congenital ichthyosis 1
  • autosomal recessive congenital ichthyosis 10
  • autosomal recessive congenital ichthyosis 11
  • autosomal recessive congenital ichthyosis 2
  • autosomal recessive congenital ichthyosis 3
  • autosomal recessive congenital ichthyosis 4A
  • autosomal recessive congenital ichthyosis 4B
  • autosomal recessive congenital ichthyosis 5
  • autosomal recessive congenital ichthyosis 6
  • autosomal recessive congenital ichthyosis 7
  • autosomal recessive congenital ichthyosis 8
  • autosomal recessive congenital ichthyosis 9
  • bathing suit ichthyosis
  • congenital non-bullous ichthyosiform erythroderma
  • exfoliative ichthyosis
  • ichthyosis, congenital, autosomal recessive 12
  • ichthyosis, congenital, autosomal recessive 13
  • ichthyosis, congenital, autosomal recessive 14
  • peeling skin syndrome 4
  • peeling skin syndrome 5
  • self-healing collodion baby
  • superficial epidermolytic ichthyosis
MONDO:0017265Orphanet 281097MedGen 697564

X-linked ichthyosis

X-vázaně recesivní

Steroid sulfatase deficiency causing dark, adherent scales mainly in males; female carriers are usually unaffected.

Co se diagnózou změní

Carrier status in female relatives can matter in pregnancy, as it is linked to low maternal oestriol and prolonged labour.

Analyzované geny

Známé také jako

ichthyosis (disease), X-linked; ichthyosis , X-linked, X-linked recessive; Ichthyosis, X Linked; ichthyosis, X-linked; RXLI; SSDD; steroid sulfatase deficiency; X linked ichthyosis; X-linked ichthyosis; X-linked recessive ichthyosis; XLI

Zahrnuje 1 příbuzný podtyp ↓
  • ichthyosis, X-linked, without steroid sulfatase deficiency
MONDO:0010622OMIM 308100Orphanet 461MedGen 86937

Epidermolytic ichthyosis

Autozomálně dominantní

A keratin disorder (KRT1/KRT10) with blistering at birth followed by thickened, ridged scaling.

Co se diagnózou změní

Diagnosis guides skin care and infection prevention, and informs family planning.

Analyzované geny

Známé také jako

autosomal dominant epidermolytic ichthyosis; BCIE; bullous congenital ichthyosiform erythroderma; bullous congenital ichthyosiform erythroderma of Brock; bullous ichthyosiform erythroderma congenita; bullous ichthyosis; congenital bullous ichthyosiform erythroderma; EHK; EI; epidermolytic hyperkeratosis; ichthyosis hystrix Brocq type

Zahrnuje 9 příbuzných podtypů ↓
  • annular epidermolytic ichthyosis
  • autosomal dominant epidermolytic ichthyosis
  • autosomal recessive epidermolytic ichthyosis
  • epidermolytic hyperkeratosis 1
  • epidermolytic hyperkeratosis 2
  • epidermolytic hyperkeratosis 2A, autosomal dominant
  • epidermolytic hyperkeratosis 2B, autosomal recessive
  • ichthyosis, annular epidermolytic 1
  • ichthyosis, annular epidermolytic, 2
MONDO:0007239MedGen 38179

Ichthyosis hystrix of Curth-Macklin

Autozomálně dominantní

A rare KRT1 keratinopathy with spiky, hyperkeratotic scaling, often over joints and palms and soles.

Analyzované geny

Známé také jako

Curth-Macklin type ichthyosis hystrix; ichthyosis histrix, curth-macklin type; ichthyosis hystrix, Curth Macklin type; ichthyosis HYSTRIX, Curth-Macklin type; ichthyosis hystrix, Curth-Macklin type; IHCM

MONDO:0007808OMIM 146590Orphanet 79503MedGen 326700

Congenital reticular ichthyosiform erythroderma

Autozomálně dominantní

A keratin disorder in which red, scaly skin at birth is later dotted with expanding islands of normal skin.

Analyzované geny

Známé také jako

CRIE; erythroderma, ichthyosiform, congenital reticular; ichthyosis variegata; ichthyosis with confetti; IWC

MONDO:0012208OMIM 609165Orphanet 281190MedGen 777141

Peeling skin syndrome

Autozomálně recesivní

A group of conditions in which the outer layer of skin peels off easily, either over the whole body or mainly on the hands and feet.

Co se diagnózou změní

Avoiding friction, heat and moisture reduces peeling.

Analyzované geny

Známé také jako

deciduous skin; familial continuous skin peeling; familial continuous skin peeling syndrome; idiopathic deciduous skin; keratosis exfoliativa congenita; peeling skin disease; PSS; skin peeling syndrome

Zahrnuje 8 příbuzných podtypů ↓
  • acral peeling skin syndrome
  • generalized peeling skin syndrome
  • generalized peeling skin syndrome type C
  • peeling skin syndrome 1
  • peeling skin syndrome 4
  • peeling skin syndrome 5
  • peeling skin syndrome 6
  • peeling skin syndrome type A
MONDO:0019347Orphanet 817MedGen 336530

Neonatal ichthyosis-sclerosing cholangitis syndrome

Autozomálně recesivní

A rare CLDN1 disorder combining ichthyosis with scalp hair loss and bile-duct inflammation in infancy.

Co se diagnózou změní

Liver monitoring is advised.

Analyzované geny

Známé také jako

ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; IHSC; ILVASC; NISCH syndrome

MONDO:0011874OMIM 607626Orphanet 59303MedGen 334382

CHILD syndrome

X-vázaně dominantní

One-sided ichthyosis-like skin inflammation with limb defects on the same side, caused by NSDHL variants; seen almost only in females.

Analyzované geny

Známé také jako

child nevus; child syndrome; CHILD syndrome, X-linked dominant; congenital hemidysplasia with ichthyosiform nevus and limb defects; Ichthyosis, CHILD Syndrome; ichthyosis, child syndrome

MONDO:0010621OMIM 308050Orphanet 139MedGen 82697

Omezení

  • Most X-linked ichthyosis is caused by a large deletion of the STS gene region on the X chromosome. This is detected through copy-number analysis; in females, who carry only one copy of the deletion, it is harder to detect reliably.
  • The keratin genes (such as KRT1 and KRT10) belong to families of closely similar genes, which can make some variants harder to call accurately.

Další dermatological conditions

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