Exfoliative ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, IBS-LIKE
AREI
Autosomal recessive exfoliative ichthyosis
Ichthyosis exfoliativa
Number of Symptoms 18
OrphanetNr: 289586
OMIM Id: 607936
ICD-10: Q80.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive congenital ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008064) Ichthyosis 108 / 7739
2
 (HPO:0100725) Lichenification 14 / 7739
3
 (HPO:0000956) Acanthosis nigricans 54 / 7739
4
 (HPO:0000962) Hyperkeratosis 216 / 7739
5
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
6
 (OMIM) Orthokeratosis, nonspecific basket-weave 1 / 7739
7
 (OMIM) Keratin-1 (K1) staining restricted to the spinous layer 1 / 7739
8
 (OMIM) Generalized dry skin with fine scaling but without erythema or blisters. (sparing of face) 1 / 7739
9
 (OMIM) Mild spongiosis 2 / 7739
10
 (OMIM) Onychodystrophy, mild, of the toenails (occasional) 1 / 7739
11
 (OMIM) Well-circumscribed peeling of the skin on the hands, feet and neck (easily elicited by moisture and minor trauma) 1 / 7739
12
 (OMIM) Thickened granular zone 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Well-circumscribed areas of nontender denuded skin on extremities 1 / 7739
15
 (OMIM) Mild perivascular lymphocytic infiltrate in the upper dermis 1 / 7739
16
 (OMIM) Normal 14 / 7739
17
 (OMIM) Electron-dense aggregates of keratin filaments in basal keratinocytes 1 / 7739
18
 (OMIM) Markedly widened intercellular spaces 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hatsell et al. (2003) reported a new variant of congenital exfoliative ichthyosis in 2 related Bedouin families. The phenotype shared some features with ichthyosis bullosa of Siemens (IBS; 146800) and annular epidermolytic ichthyosis (607602), and clinical distinction seemed ...
Molecular genetics OMIM In a consanguineous Bedouin kindred with autosomal recessive exfoliative ichthyosis mapping to chromosome 3q21, Blaydon et al. (2011) identified homozygosity for a splice site mutation in the candidate gene CSTA (184600.0001) that segregated with disease in the family ...