Congenital reticular ichthyosiform erythroderma

General Information (adopted from Orphanet):

Synonyms, Signs: ERYTHROKERATODERMIA, RETICULAR
ICHTHYOSIS VARIEGATA AARAU DISEASE, INCLUDED
IWC
CRIE
Ichthyosis variegata
ichthyosis with confetti
Number of Symptoms 15
OrphanetNr: 281190
OMIM Id: 609165
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited ichthyosis nonsyndromic form
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
2
 (HPO:0001217) Clubbing rare [HPO:skoehler] 39 / 7739
3
 (HPO:0001019) Erythroderma 24 / 7739
4
 (HPO:0000956) Acanthosis nigricans 54 / 7739
5
 (HPO:0000962) Hyperkeratosis 216 / 7739
6
 (HPO:0000998) Hypertrichosis rare [HPO:skoehler] 52 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Erythematous ichthyotic patches 1 / 7739
9
 (OMIM) Patches are surrounded by normal skin in a fine, reticular pattern 1 / 7739
10
 (OMIM) Band-like parakeratosis 1 / 7739
11
 (OMIM) Perinuclear material is filamentous 1 / 7739
12
 (OMIM) Binucleated cells in the upper epidermis 1 / 7739
13
 (OMIM) Amyloid deposits in the dermis (less common) 1 / 7739
14
 (OMIM) Perinuclear 'shells' in vacuolated keratinocytes 1 / 7739
15
 (OMIM) Vacuolized keratinocytes 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital reticular ichthyosiform erythroderma (CRIE) is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small ...
Clinical Description OMIM Krunic et al. (2003) reported a 32-year-old white man with a history of red, scaly skin since birth. At age 10 years, he developed enlarging white spots on the trunk and extremities. Physical examination showed diffuse intense erythema ...
Molecular genetics OMIM Choate et al. (2010) sequenced the entire critical interval for IWC in a parent-child trio and identified a de novo mutation in the keratin-10 gene (KRT10; 148080) in the affected subject. The mutation abolished the canonical splice acceptor ...