Rare diseases · Sign or symptom
Ichthyosis
HP:0008064
What it means
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. Ichthyosis can have a congenital onset or be acuqired, e.g., paraneoplastic ichthyosis.
Rare diseases that can present with this67
Very common80–99%
32- Acquired ichthyosis
- Adult Refsum disease
- Autosomal dominant epidermolytic ichthyosis
- Bathing suit ichthyosis
- CEDNIK syndrome
- CHIME syndrome
- Congenital ichthyosiform erythroderma
- Congenital ichthyosis-microcephalus-tetraplegia syndrome
- Congenital lethal erythroderma
- Dermotrichic syndrome
- Fetal Gaucher disease
- Harlequin ichthyosis
- Hereditary acrokeratotic poikiloderma
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Ichthyosis-hypotrichosis syndrome
- Ichthyosis hystrix of Curth-Macklin
- Ichthyosis-prematurity syndrome
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Lamellar ichthyosis
- MEDNIK syndrome
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Multiple sulfatase deficiency
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neu-Laxova syndrome
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- Recessive X-linked ichthyosis
- Rhizomelic chondrodysplasia punctata
- Self-improving collodion baby
- Stormorken-Sjaastad-Langslet syndrome
- Superficial epidermolytic ichthyosis
- Syndromic recessive X-linked ichthyosis
Common30–79%
9- Acral peeling skin syndrome
- Alopecia-intellectual disability syndrome
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Cardiofaciocutaneous syndrome
- DK1-CDG
- MEND syndrome
- SRD5A3-CDG
- X-linked dominant chondrodysplasia punctata
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Sometimes5–29%
24- Acquired hypertrichosis lanuginosa
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Blau syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- BRESEK syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
and 16 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 3 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hypertrophic ichthyosis · Ichthyosiform abnormality of the skin · Ichthyotic skin
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.