Bathing suit ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: COLLODION BABY, SELF-HEALING
ICHTHYOSIS CONGENITA II
LAMELLAR EXFOLIATION OF NEWBORN
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
COLLODION FETUS
ICHTHYOSIS, LAMELLAR, 1, FORMERLY
DESQUAMATION OF NEWBORN
ICHTHYOSIS CONGENITA
LI1, FORMERLY
ARCI1
BSI
SHCB
ICR2
Number of Symptoms 33
OrphanetNr: 100976
OMIM Id: 242300
ICD-10: Q80.2
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:0000232) Everted lower lip vermilion 90 / 7739
2
(HPO:0012472) Eclabion 7 / 7739
3
(HPO:0000656) Ectropion 25 / 7739
4
(HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
5
(HPO:0009473) Joint contracture of the hand 84 / 7739
6
(HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
7
(HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
8
(HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
9
(HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
10
(HPO:0001019) Erythroderma 24 / 7739
11
(HPO:0007549) Desquamation of skin soon after birth 2 / 7739
12
(HPO:0001006) Hypotrichosis rare [HPO:skoehler] 219 / 7739
13
(HPO:0001596) Alopecia rare [HPO:skoehler] 162 / 7739
14
(HPO:0004528) Generalized hypotrichosis 18 / 7739
15
(HPO:0002289) Alopecia universalis 20 / 7739
16
(OMIM) Broad stratum granulosum 1 / 7739
17
(OMIM) Acanthosis, mild to moderate 1 / 7739
18
(OMIM) Parakeratosis, minimal to none 1 / 7739
19
(OMIM) Thickening of cornified cell envelope during keratinization 1 / 7739
20
(OMIM) Taut facial skin 1 / 7739
21
(OMIM) Hypohidrosis or anhidrosis (in some patients) 1 / 7739
22
(OMIM) Lymphocytic infiltrate in upper dermis, mild 1 / 7739
23
(OMIM) Lipid vacuoles in corneocytes 1 / 7739
24
(OMIM) Bathing suit distribution of ichthyosis (in some patients) 1 / 7739
25
(OMIM) Cholesterol clefts in thickened stratum corneum 1 / 7739
26
(OMIM) Palmoplantar hyperkeratosis, mild (in some patients) 1 / 7739
27
(OMIM) Self-healing collodion baby (in some patients) 1 / 7739
28
(OMIM) Digital necrosis (in some patients) 1 / 7739
29
(OMIM) Fine white scales 1 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(OMIM) Collodion membrane at birth 10 / 7739
32
(OMIM) Large dark plate-like scales 1 / 7739
33
(OMIM) Marked hyperkeratosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The ...
Clinical Description OMIM The neonate with lamellar ichthyosis presents at birth with a collodion-like membrane encasing the neonate; the skin later develops large, brown, platelike scales covering the entire body (Williams and Elias, 1985). See picture in Sorsby (1953). Russell et ...
Genotype-Phenotype Correlations OMIM Hennies et al. (1998) investigated the genotype/phenotype correlation in 14 families with lamellar ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second ...
Molecular genetics OMIM Huber et al. (1995) observed that affected individuals in 3 families with autosomal recessive lamellar ichthyosis exhibited drastically reduced transglutaminase activity; in 2 of the families, expression of TGM1 transcripts was diminished or abnormal and no TGM1 protein ...
Population genetics OMIM Russell et al. (1994) cited a prevalence of lamellar ichthyosis of approximately 1 in 200,000 persons.

Lefevre et al. (2006) stated that the estimated incidence of ARCI is between 1 in 300,000 and 1 in 500,000. ...