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Autosomal dominant lamellar ichthyosis(ADLI)

MedGen UID:
98486
Concept ID:
C0432304
Congenital Abnormality; Disease or Syndrome
Synonyms: Autosomal-dominant lamellar ichthyosis; Ichthyosiform erythroderma, nonbullous, dominant form; Ichthyosis, Lamellar, Autosomal Dominant; Lamellar Ichthyosis, Autosomal Dominant; Lamellar ichthyosis, autosomal dominant form; Lamellar ichthyosis, dominant
SNOMED CT: Autosomal dominant lamellar ichthyosis (254164007)
 
Gene (location): ASPRV1 (2p13.3)
 
Monarch Initiative: MONDO:0007812
OMIM®: 146750

Definition

Autosomal dominant lamellar ichthyosis (ADLI) is characterized by onset at birth or in the early neonatal period. Patients have large dark scales over the entire body, which are more prominent on the extremities, and palmoplantar keratoderma is present. Some patients experience mild erythema and/or moderate itching. Absence of sweating in severely affected areas has been reported (Boyden et al., 2020). [from OMIM]

Clinical features

From HPO
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Professional guidelines

PubMed

Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110

Recent clinical studies

Etiology

Melnik B, Küster W, Hollmann J, Plewig G, Traupe H
Clin Genet 1989 Feb;35(2):152-6. doi: 10.1111/j.1399-0004.1989.tb02921.x. PMID: 2721024
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Diagnosis

Kolde G, Happle R, Traupe H
Arch Dermatol Res 1985;278(1):1-5. doi: 10.1007/BF00412487. PMID: 4096524
Traupe H, Kolde G, Happle R
Clin Genet 1984 Nov;26(5):457-61. doi: 10.1111/j.1399-0004.1984.tb01089.x. PMID: 6499258

Therapy

Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Prognosis

Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Melnik B, Küster W, Hollmann J, Plewig G, Traupe H
Clin Genet 1989 Feb;35(2):152-6. doi: 10.1111/j.1399-0004.1989.tb02921.x. PMID: 2721024
Kolde G, Happle R, Traupe H
Arch Dermatol Res 1985;278(1):1-5. doi: 10.1007/BF00412487. PMID: 4096524

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