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Lamellar ichthyosis

6 OMIM references -
6 associated genes
24 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Harlequin ichthyosis

1 OMIM reference -
1 associated gene
20 signs/symptoms

Lamellar ichthyosis

Harlequin ichthyosis

ABCA12	(UniProt - OMIM)		ABCA12	(UniProt - OMIM)
ALOX12B	(UniProt - OMIM)
CYP4F22	(UniProt - OMIM)
LIPN	(UniProt - OMIM)
NIPAL4	(UniProt - OMIM)
TGM1	(UniProt - OMIM)


COMMON GENES	ABCA12

Citations in the biomedical literature:

Lamellar ichthyosis		Harlequin ichthyosis
	Synonym(s): - Classic lamellar ichthyosis - Congenital lamellar ichthyosis - LI		Synonym(s): - HI - Ichthyosis congenita, harlequin type - Ichthyosis fetalis, Harlequin type

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 6 OMIM references - 1 MeSH reference: D017490		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Dehydration / hydroelectrolytic loss - Ectropion / entropion / eyelid eversion - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Ichthyosis / ichthyosiform dermatitis - Repeat respiratory infections

Lamellar ichthyosis		Harlequin ichthyosis
	Very frequent - Absent / decreased / thin eyebrows - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - Pruritus / itching - Tight skin / lack of elasticity Frequent - Everted lower lip - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Chronic / relapsing otitis - Gangrena / necrosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Musculo-tendinous retractions - Renal failure - Sepsis severe / septicemia - Short stature / dwarfism / nanism		Very frequent - Anomalies of ear and hearing - Flattened nose Frequent - Anomalies of mouth, lip and philtrum - Restricted joint mobility / joint stiffness / ankylosis - Spindle shaped fingers Occasional - Auto-aggressivity / auto-mutilation - Cataract / lens opacification - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Early death / lethality - Malignant hyperthermia - Polydactyly of toes - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Upper limb polydactyly / hexadactyly