Links from Gene

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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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