ADLI
MCID: ICH074
MIFTS: 24

Ichthyosis, Lamellar, Autosomal Dominant (ADLI)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Lamellar, Autosomal Dominant

MalaCards integrated aliases for Ichthyosis, Lamellar, Autosomal Dominant:

Name: Ichthyosis, Lamellar, Autosomal Dominant 57
Lamellar Ichthyosis, Autosomal Dominant 57 20
Autosomal Dominant Lamellar Ichthyosis 36 6
Ichthyosis Lamellar, Autosomal Dominant 20
Adli 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in neonatal period
improvement during warmer weather


HPO:

31
ichthyosis, lamellar, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ichthyosis, Lamellar, Autosomal Dominant

OMIM® : 57 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). Traupe et al. (1984) reported a large family of German descent (East Prussia) in which 5 individuals over 3 generations exhibited congenital lamellar ichthyosis that was evident at birth. The 8-year-old proband, her 27-year-old mother, and 52-year-old maternal grandfather exhibited large dark-brown scales over most of the body, including the palms and soles, with relative sparing of the face, anterior chest, and abdomen. The hyperkeratotic skin appeared lichenified on the back of the hands and feet as well as on the wrists, knees, and ankles. There was no history of erythema or blistering. The proband's teeth showed severe caries, but hair was normal. Her 13-month-old brother showed large translucent scales over the entire body, with relative sparing of the diaper area, especially the buttocks. He had 2 circumscribed erythematous patches on his legs, and experienced severe itching. The mother's deceased sister was also reported to have been affected. Histopathologic analysis of severely affected skin from the proband and her mother showed both orthokeratosis and parakeratosis, associated with a marked increase in the granular layer. The authors designated the disorder 'autosomal dominant lamellar ichthyosis (ADLI).' Kolde et al. (1985) described the ultrastructural characteristics of affected skin from the mother and daughter originally reported by Traupe et al. (1984). There were slightly enlarged nuclei that sometimes showed prominent nucleoli, an increased number of mitochondria, and numerous free ribosomes in the cells of the malpighian layer. The widened granular layer also contained numerous mitochondria, and nucleated keratinocytes were found even in the uppermost transforming keratinocytes. Kolde et al. (1985) noted that in contrast to other ichthyoses, there was a prominent transformation zone between the stratum granulosum and corneum, consisting of up to 6 cell layers that reflected the structural and biochemical conversion of fully developed granular cells into horny cells. The authors suggested that ADLI might serve as a model for the study of cornification in humans. Williams and Elias (1986) concurred that the family described by Traupe et al. (1984) with affected members in 3 generations had an autosomal dominant form of 'lamellar' ichthyosis and mentioned a similar family of their own. Larregue et al. (1986) briefly described one 3-generation family and five 2-generation families with lamellar ichthyosis. The disorder was severe in these families and was accompanied by a collodion membrane at birth. Melnik et al. (1989) concluded that the pattern of lipids in the scales, as demonstrated by sequential high-performance thin-layer chromatography, differs from that of the erythrodermic and nonerythrodermic variants of autosomal recessive lamellar ichthyosis. Boyden et al. (2020) studied 13 patients in 4 families segregating autosomal dominant lamellar ichthyosis and mutations in the ASPRV1 gene, including the 3-generation German family (kindred 630) originally reported by Traupe et al. (1984). The affected individuals exhibited a consistent phenotype, with all presenting at birth or within the first months of life with scaling involving the entire body, including the flexures, palms, and soles. None had collodion membrane. Scales were large and plate-like, and most prominent on the arms and legs. Erythema was absent or mild. Scaling improved, but did not completely resolve, during warmer weather. Affected individuals reported an inability to perspire when scaling was severe. Palmoplantar keratoderma was present, with prominent scaling and accentuation of creases. Some patients reported moderate itch. Histology showed acanthosis, compact orthohyperkeratosis, and a slightly expanded granular layer. (146750) (Updated 05-Mar-2021)

MalaCards based summary : Ichthyosis, Lamellar, Autosomal Dominant, also known as lamellar ichthyosis, autosomal dominant, is related to autosomal recessive congenital ichthyosis and ichthyosis. An important gene associated with Ichthyosis, Lamellar, Autosomal Dominant is ASPRV1 (Aspartic Peptidase Retroviral Like 1). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and pruritus

KEGG : 36 Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.

Related Diseases for Ichthyosis, Lamellar, Autosomal Dominant

Diseases in the Ichthyosis, Lamellar, Autosomal Dominant family:

Ichthyosis Lamellar 1 Ichthyosis Lamellar 3

Diseases related to Ichthyosis, Lamellar, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital ichthyosis 10.4
2 ichthyosis 10.4
3 ichthyosis vulgaris 10.1
4 ichthyosis, congenital, autosomal recessive 1 10.1
5 ichthyosis, congenital, autosomal recessive 10 10.1

Graphical network of the top 20 diseases related to Ichthyosis, Lamellar, Autosomal Dominant:



Diseases related to Ichthyosis, Lamellar, Autosomal Dominant

Symptoms & Phenotypes for Ichthyosis, Lamellar, Autosomal Dominant

Human phenotypes related to Ichthyosis, Lamellar, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 pruritus 31 HP:0000989
3 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
palmoplantar keratoderma
large dark scales over entire body
relative sparing of face, anterior chest, and abdomen
erythema, mild (in some patients)
moderate pruritus (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
slightly enlarged nuclei
occasional prominent nucleoli
increased number of mitochondria
numerous free ribosomes in cells of malpighian layer
nucleated keratinocytes present even in uppermost transforming keratinocytes
more
Skin Nails Hair Skin Histology:
parakeratosis
acanthosis
papillomatosis
orthohyperkeratosis
increased granular layer
more

Clinical features from OMIM®:

146750 (Updated 05-Mar-2021)

Drugs & Therapeutics for Ichthyosis, Lamellar, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Non-Myeloablative Conditioning With Allogeneic Peripheral Blood Progenitor Cell Transplantation Followed by Prophylactic Activated Donor Lymphocyte Infusion (DLI) for the Treatment of High Risk Acute Leukemia/MDS Completed NCT00374933 Phase 1 Non-myeloablative allogeneic stem cell transplant with prophylactic activated DLI;"Prophylactic" delayed ADLI;"Prophylactic" delayed activated donor lymphocyte infusion
2 A Phase I/II Trial Of DLI And Activated DLI (ADLI) Followed By Either Repetitive Dosing Of ADLI Or Dose Escalated ADLI For Patients With Relapse After Allogeneic Stem Cell Transplantation Terminated NCT00674427 Phase 1

Search NIH Clinical Center for Ichthyosis, Lamellar, Autosomal Dominant

Genetic Tests for Ichthyosis, Lamellar, Autosomal Dominant

Anatomical Context for Ichthyosis, Lamellar, Autosomal Dominant

MalaCards organs/tissues related to Ichthyosis, Lamellar, Autosomal Dominant:

40
Skin

Publications for Ichthyosis, Lamellar, Autosomal Dominant

Articles related to Ichthyosis, Lamellar, Autosomal Dominant:

# Title Authors PMID Year
1
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. 6 57
32516568 2020
2
Autosomal dominant lamellar ichthyosis: a new skin disorder. 57 6
6499258 1984
3
Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern. 57
2721024 1989
4
Autosomal dominant lamellar ichthyosis. 57
3757302 1986
5
Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling. 57
3707167 1986
6
[Collodion baby: 32 new case reports]. 57
3548541 1986
7
Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis. 57
4096524 1985
8
Effect of topical tazarotene in the treatment of congenital ichthyoses. 61
10583110 1999
9
Retinoids in disorders of keratinization: their use in adults. 61
2961628 1987

Variations for Ichthyosis, Lamellar, Autosomal Dominant

ClinVar genetic disease variations for Ichthyosis, Lamellar, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASPRV1 NM_152792.2(ASPRV1):c.595A>G (p.Lys199Glu) SNV Pathogenic 977277 2:70188226-70188226 2:69961094-69961094
2 ASPRV1 NM_152792.2(ASPRV1):c.940C>A (p.Pro314Thr) SNV Pathogenic 977278 2:70187881-70187881 2:69960749-69960749
3 ASPRV1 NM_152792.2(ASPRV1):c.932G>C (p.Arg311Pro) SNV Pathogenic 977279 2:70187889-70187889 2:69960757-69960757

Expression for Ichthyosis, Lamellar, Autosomal Dominant

Search GEO for disease gene expression data for Ichthyosis, Lamellar, Autosomal Dominant.

Pathways for Ichthyosis, Lamellar, Autosomal Dominant

GO Terms for Ichthyosis, Lamellar, Autosomal Dominant

Sources for Ichthyosis, Lamellar, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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