Harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.



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Narrow down the case reports



Total: 45 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.7%)		 15557308
 Short foot length: a diagnostic pointer for harlequin ichthyosis.
Suresh S, Vijayalakshmi R, Indrani S, Lata M.
J Ultrasound Med. 2004;23(12):1653-7.
Ectropion Short foot
Adult Congenital Nonbullous Ichthyosiform Erythroderma Fatal Outcome Females Femur Foot Homo sapiens Pregnancy Pregnancy Trimester, Second Pregnancy Trimester, Third Ultrasonography, Prenatal
2
(42.3%)		 14521561
 Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis.
Chan YC, Tay YK, Tan LK, Happle R, Giam YC.
Pediatr Dermatol. 2003;20(5):421-6.
Ectropion Arthritis
Antirheumatic Agents Child Congenital Nonbullous Ichthyosiform Erythroderma Females Homo sapiens Hypothyroidism Infant Male
3
(37.1%)		 27267339
 Generalized morphea in a child with harlequin ichthyosis: a rare association.
Giacomin MF, Franca CM, Oliveira ZN, Machado MC, Sallum AM, Silva CA.
Rev Bras Reumatol Engl Ed. 2016;56(1):82-5.
Ectropion Eclabion
Child, Preschool Congenital Nonbullous Ichthyosiform Erythroderma Ectropion Females Homo sapiens Skin
4
(30.8%)		 29880184
 Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.
Jian W, Du QT, Lai ZF, Li YF, Li SQ, Xiong ZT, Chen DJ, Chen M, Chen JS.
Taiwan J Obstet Gynecol. 2018;57(3):452-455.
Ectropion
ATP-Binding Cassette Transporters Adult Congenital Nonbullous Ichthyosiform Erythroderma Females Fetal Diseases Heterozygote Homo sapiens Male Mutation Pregnancy Ultrasonography, Prenatal
4
(30.8%)		 26740202
 Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.
Kun-Darbois JD, Molin A, Jeanne-Pasquier C, Pare A, Benateau H, Veyssiere A.
Rev Stomatol Chir Maxillofac Chir Orale. 2016;117(1):51-3.
Ectropion
Adult Congenital Nonbullous Ichthyosiform Erythroderma Face Females Homo sapiens Infant, Newborn Male Pregnancy Young Adult
4
(30.8%)		 25539778
 Harlequin ichthyosis in an infant born to a father with eczema.
Fatima S, Rafiq A, Majid Z.
J Trop Pediatr. 2015;61(2):143-5.
Ectropion
Congenital Nonbullous Ichthyosiform Erythroderma Ectropion Eczema Fatal Outcome Filaggrin Proteins Genetic Predisposition to Disease Homo sapiens Infant, Newborn Intensive Care Units, Neonatal Intermediate Filament Proteins Male
4
(30.8%)		 24055722
 Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O.
Gene. 2013;531(2):510-3.
Ectropion
ABCA12
c|DEL|1857|A c|DEL|5653_5655|TAT
ATP-Binding Cassette Transporters Biological Models Congenital Nonbullous Ichthyosiform Erythroderma DNA Mutational Analysis Fatal Outcome Females Homo sapiens Infant, Newborn Pregnancy Sequence Deletion Single Nucleotide Polymorphism Ultrasonography, Prenatal
4
(30.8%)		 21413658
 Harlequin ichthyosis.
Akhdari N, Ouladsiad M, Aboussad A, Amal S.
Skinmed. 2010;8(6):371-2.
Ectropion
Congenital Nonbullous Ichthyosiform Erythroderma Fatal Outcome Homo sapiens Infant, Newborn Male
4
(30.8%)		 20166009
 [Harlequin ichthyosis--medical and psychosocial challenges].
Eilers E, Stieler K, Thies C, Blume-Peytavi U, Obladen M, Huseman D.
Klin Padiatr. 2010;222(2):86-69.
Ectropion
ABCA12
ATP-Binding Cassette Transporters Attitude of Health Personnel Chromosome Deletion Combined Modality Therapy Congenital Nonbullous Ichthyosiform Erythroderma Developmental Disabilities Emigrants and Immigrants Enteral Nutrition Exons Fluid Therapy Germany Homo sapiens Homozygote Infant Infant, Newborn Male Mutation Pakistan Physical Therapy Modalities
4
(30.8%)		 20038941
 Perinatal management of harlequin ichthyosis: a case report and literature review.
Harvey HB, Shaw MG, Morrell DS.
J Perinatol. 2010;30(1):66-72.
Ectropion
Child, Preschool Combined Modality Therapy Congenital Nonbullous Ichthyosiform Erythroderma Ectropion Homo sapiens Infant Infant, Newborn Keratolytic Agents Physical Therapy Modalities Referral and Consultation
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0000656 Ectropion Very frequent (99-80%)
HP:0000962 Hyperkeratosis Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0007431 Congenital ichthyosiform erythroderma Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0001019 Erythroderma Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0012472 Eclabion Frequent (79-30%)
HP:0000518 Cataract Occasional (29-5%)
HP:0001161 Hand polydactyly Occasional (29-5%)
HP:0001645 Sudden cardiac death Occasional (29-5%)
HP:0001829 Foot polydactyly Occasional (29-5%)
HP:0001944 Dehydration Occasional (29-5%)
HP:0002047 Malignant hyperthermia Occasional (29-5%)
HP:0002093 Respiratory insufficiency Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 12

HPO ID Term # of case reports
HP:0007431 Congenital ichthyosiform erythroderma 8
HP:0000656 Ectropion 2
HP:0025608 Cicatricial ectropion 2
HP:0000964 Eczema 1
HP:0001773 Short foot 1
HP:0005595 Generalized hyperkeratosis 1
HP:0007543 Epidermal hyperkeratosis 1
HP:0010783 Erythema 1
HP:0012344 Morphea 1
HP:0012375 Chemosis 1
HP:0012472 Eclabion 1
HP:0040189 Scaling skin 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ABCA12 ATP binding cassette subfamily A member 12 26154