Ichthyosis hystrix, lambert type

Preferred Label : Ichthyosis hystrix, lambert type;

Symbol : IHL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis hystrix gravior; Porcupine man;

Description : Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization are known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix (146590), concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior, only rudimentary tonofilaments are found with compensatory production of mucous granules. Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized and ichthyosis hystrix when localized.;

Inheritance : Autosomal dominant;

Prefixed ID : #146600;

Details

Origin ID

146600;

UMLS CUI

C0432311;

Automatic exact mappings (from CISMeF team)
- Ichthyosis hystrix [PASCAL descriptor]
- Ichthyosis hystrix (disorder) [SNOMED CT concept]
- Porcupine man (disorder) [SNOMED CT concept]
- ichthyosis hystrix [SNOMED Notion]
- porcupines [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ichthyosis hystrix gravior [MeSH concept]
- Ichthyosis hystrix gravior [ORDO Disease]
- ichthyosis hystrix gravior [MeSH Supplementary Concept]
Genes related to phenotype
- Keratin 10, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
ORDO concept(s)
- Ichthyosis hystrix gravior [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis hystrix gravior [ORDO Disease]
- Ichthyosis hystrix gravior [MeSH concept]
- Ichthyosis hystrix gravior (disorder) [SNOMED CT concept]
- Porcupine man (disorder) [SNOMED CT concept]
- ichthyosis hystrix gravior [MeSH Supplementary Concept]

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