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Lamellar ichthyosis
6 OMIM references -
6 associated genes
40 connected diseases
24 signs/symptoms
Disease Type of connection
Congenital non-bullous ichthyosiform erythroderma
Self-healing collodion baby
Acral self-healing collodion baby
Bathing suit ichthyosis
Harlequin ichthyosis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Apolipoprotein A-I deficiency
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Tangier disease
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Ichthyosis prematurity syndrome
Synonym(s):
- Classic lamellar ichthyosis
- Congenital lamellar ichthyosis
- LI
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
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
External references:
6 OMIM references -
1 MeSH reference: D017490
Very frequent
- Absent / decreased / thin eyebrows
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- 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
- Dehydration / hydroelectrolytic loss
- Gangrena / necrosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Musculo-tendinous retractions
- Renal failure
- Repeat respiratory infections
- Sepsis severe / septicemia
- Short stature / dwarfism / nanism