Harlequin ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: HARLEQUIN FETUS&#39
ARCI4B
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
HARLEQUIN ICHTHYOSIS
&#39

HI
Ichthyosis fetalis, Harlequin type
Ichthyosis congenita, harlequin type
Number of Symptoms 40
OrphanetNr: 457
OMIM Id: 242500
ICD-10: Q80.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases [Orphanet]
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:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
2
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000520) Proptosis 192 / 7739
4
 (HPO:0000656) Ectropion 25 / 7739
5
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
6
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
7
 (HPO:0012472) Eclabion 7 / 7739
8
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
9
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
10
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
13
 (HPO:0001238) Slender finger Frequent [Orphanet] 23 / 7739
14
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
15
 (HPO:0009381) Short finger 45 / 7739
16
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
17
 (HPO:0001622) Premature birth 100 / 7739
18
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
19
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
20
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
21
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
22
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
23
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
24
 (HPO:0001944) Dehydration Occasional [Orphanet] 59 / 7739
25
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
26
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
27
 (OMIM) Large diamond-shaped plaques 1 / 7739
28
 (OMIM) Severe ectropion 1 / 7739
29
 (OMIM) Necrotic fingertips 1 / 7739
30
 (OMIM) Flattened 1 / 7739
31
 (OMIM) Collodion membrane at birth 10 / 7739
32
 (OMIM) Rudimentary 1 / 7739
33
 (OMIM) Necrotic distal toes 1 / 7739
34
 (OMIM) Constricting bands around extremities at birth 1 / 7739
35
 (OMIM) Harlequin fetus 1 / 7739
36
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Abnormal lamellar granule formation 1 / 7739
39
 (OMIM) Tonofibril defect (cross-beta-protein structure) 1 / 7739
40
 (OMIM) Semiflexed rigid limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose ...
Diagnosis OMIM - Prenatal Diagnosis

Blanchet-Bardon et al. (1983) achieved prenatal diagnosis of harlequin fetus by skin biopsies done by fetoscopy at 22 weeks' gestation. The parents were second cousins; of 4 previously born children, 2 had the ...
Clinical Description OMIM Nix et al. (1963) claimed that this recessive form of ichthyosis is distinct from the lamellar exfoliative type of congenital ichthyosis (see 242300). Goldsmith (1976) agreed with the distinctness of this entity from lamellar ichthyosis. It carries a ...
Genotype-Phenotype Correlations OMIM Akiyama (2010) reviewed mutations in the ABCA12 gene and stated that a total of 56 mutations had been reported in 66 ARCI families, including 48 with harlequin ichthyosis (HI), 10 with lamellar ichthyosis (LI), and 8 with ichthyosis ...
Molecular genetics OMIM By sequencing of the ABCA12 gene, which maps within the critical region of chromosome 2q35 for harlequin ichthyosis, Kelsell et al. (2005) identified disease-associated mutations, including large intragenic deletions and frameshift deletions (see, e.g., 607800.0006-607800.0009) in 11 of ...