Ichthyosis hystrix gravior

General Information (adopted from Orphanet):

Synonyms, Signs: PORCUPINE MAN
ichthyosis, lambert type
Number of Symptoms 3
OrphanetNr: 79504
OMIM Id: 146600
ICD-10: Q80.0
UMLs: C0432311
MeSH: C536087
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Keratinopathic ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0008064) Ichthyosis 108 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Ichthyosis hystrix gravior 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Anton-Lamprecht (1978) pointed out that electron microscopy is particularly revealing in dominant disorders in which structural abnormality of a protein is likely to be found, whereas biochemistry is more likely to be revealing in recessive disorders. The examples ...
Clinical Description OMIM Penrose and Stern (1958) stated that between 1731 and 1851, the Lambert family of Suffolk, England, had 11 members in 4 generations with ichthyosis hystrix gravior. It was the Lambert pedigree from which the term 'porcupine man' arose. ...