NC
MCID: NVS015
MIFTS: 35

Nevus Comedonicus (NC)

Categories: Genetic diseases, Mental diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Nevus Comedonicus

MalaCards integrated aliases for Nevus Comedonicus:

Name: Nevus Comedonicus 57 19 73 71 75
Nevus Comedonicus Syndrome 19 58 28 5
Nevus Comedonicus, Somatic 57 38
Nc 57 73

Characteristics:


Inheritance:

Somatic mutation 57

Age Of Onset:

Nevus Comedonicus Syndrome: Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Nevus Comedonicus

GARD: 19 Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

MalaCards based summary: Nevus Comedonicus, also known as nevus comedonicus syndrome, is related to nevus, epidermal and epidermolytic hyperkeratosis. An important gene associated with Nevus Comedonicus is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skin, breast and lung, and related phenotypes are hamartoma and comedo

OMIM®: 57 Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013). (617025) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid.

Orphanet: 58 A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.

Wikipedia: 75 Nevus comedonicus (also known as a comedo nevus) is characterized by closely arranged, grouped, often... more...

Related Diseases for Nevus Comedonicus

Diseases related to Nevus Comedonicus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 10.5
2 epidermolytic hyperkeratosis 10.4
3 autosomal dominant epidermolytic ichthyosis 10.4
4 skin disease 10.3
5 acne 10.3
6 pneumothorax, primary spontaneous 10.2
7 polydactyly, preaxial iv 10.2
8 tooth agenesis 10.2
9 ptosis 10.2
10 ectropion 10.2
11 pneumothorax 10.2
12 hidradenitis suppurativa 10.2
13 hidradenitis 10.2
14 cataract 10.2
15 erythrokeratoderma ''en cocardes'' 10.2
16 bladder cancer 10.0
17 epidermoid cysts 10.0
18 birt-hogg-dube syndrome 10.0
19 attention deficit-hyperactivity disorder 10.0
20 muir-torre syndrome 10.0
21 schimmelpenning-feuerstein-mims syndrome 10.0
22 spondylosis, cervical 10.0
23 chromosome 2q35 duplication syndrome 10.0
24 atrophoderma vermiculata 10.0
25 orofaciodigital syndrome i 10.0
26 fanconi anemia, complementation group e 10.0
27 polydactyly 10.0
28 scoliosis 10.0
29 bone disease 10.0
30 pemphigoid 10.0
31 large congenital melanocytic nevus 10.0
32 cauda equina syndrome 10.0
33 glanders 10.0
34 hypothyroidism 10.0
35 keratosis 10.0
36 acanthoma 10.0
37 vascular disease 10.0
38 spondylosis 10.0
39 basal cell carcinoma 10.0
40 skin atrophy 10.0
41 keratoacanthoma 10.0
42 neurilemmoma 10.0
43 mood disorder 10.0
44 cellulitis 10.0
45 hidradenoma 10.0
46 pilar sheath acanthoma 10.0
47 orofaciodigital syndrome 10.0
48 eccrine acrospiroma 10.0
49 syringocystadenoma papilliferum 10.0
50 localized scleroderma 10.0

Graphical network of the top 20 diseases related to Nevus Comedonicus:



Diseases related to Nevus Comedonicus

Symptoms & Phenotypes for Nevus Comedonicus

Human phenotypes related to Nevus Comedonicus:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hamartoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010566
2 comedo 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025249
3 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
4 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
5 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
6 abnormal vertebral morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003468
7 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
8 ichthyosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008064
9 nevus flammeus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001052
10 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003298
11 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
12 toe syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001770
13 preaxial polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100258
14 abnormal hair morphology 30 Occasional (7.5%) HP:0001595
15 spina bifida 58 Occasional (29-5%)
16 abnormality of the foot 58 Occasional (29-5%)
17 abnormality of the hair 58 Occasional (29-5%)
18 nevus comedonicus 30 HP:0020154

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
linearly grouped comedones
inflammatory cysts
cribriform scarring

Skin Nails Hair Skin Histology:
follicles with dilated ostia adjacent to normal follicles
marked acanthosis of outer root sheath in abnormal follicles
papillomatosis of outer root sheath in abnormal follicles
apparent lack of sebaceous lobules in abnormal follicles
large keratin-filled cysts in deep dermis

Clinical features from OMIM®:

617025 (Updated 08-Dec-2022)

Drugs & Therapeutics for Nevus Comedonicus

Search Clinical Trials, NIH Clinical Center for Nevus Comedonicus

Genetic Tests for Nevus Comedonicus

Genetic tests related to Nevus Comedonicus:

# Genetic test Affiliating Genes
1 Nevus Comedonicus Syndrome 28 NEK9

Anatomical Context for Nevus Comedonicus

Organs/tissues related to Nevus Comedonicus:

MalaCards : Skin, Breast, Lung, Bone

Publications for Nevus Comedonicus

Articles related to Nevus Comedonicus:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Somatic Mutations in NEK9 Cause Nevus Comedonicus. 62 57 5
27153399 2016
2
Nevus comedonicus: an updated review. 62 57
23888253 2013
3
Nevus comedonicus: An image to remember. 62
36462158 2022
4
Nevus comedonicus: An image to remember. 62
35138682 2022
5
Linear Nevus Comedonicus. 62
35321579 2022
6
Extensive unilateral nevus comedonicus with an inflammatory component. 62
36344349 2022
7
Three novel pathogenic NEK9 variants in patients with nevus comedonicus: A case series. 62
33819539 2022
8
Nevus Comedonicus Syndrome Associated with Psychiatric Disorder. 62
35204472 2022
9
Nevus Comedonicus with Epidermolytic Hyperkeratosis: A Case Report. 62
35463735 2022
10
Acne Syndromes and Mosaicism. 62
34829964 2021
11
Giant nevus comedonicus of the entire lower left limb protecting from the associated bullous pemphigoid: A hypothetical role of NEK9 mutation? 62
34002421 2021
12
Extensive Nevus Comedonicus with Inflammatory Nodules and Cysts Controlled with Adalimumab. 62
34341638 2021
13
Nevus comedonicus syndrome: A systematic review of the literature. 62
33481271 2021
14
Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion. 62
32984649 2020
15
Dermoscopy of late-onset nevus comedonicus. 62
33008657 2020
16
Punctate porokeratosis-pruritic and hyperkeratotic papules on the palms and feet. 62
32675969 2020
17
Nevus Comedonicus Suppurativa: A Report of a Novel Entity. 62
32884617 2020
18
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. 62
31961058 2020
19
Successful treatment of late-onset nevus comedonicus with Er:YAG laser. 62
31328868 2020
20
Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion. 62
31909294 2020
21
Improvement of nevus comedonicus after repeated microneedling. 62
32042876 2020
22
Nevus Comedonicus With Acne Vulgaris and Obesity. 62
31921493 2020
23
A Microneedling Fractional Radiofrequency Device for the Treatment of Nevus Comedonicus. 62
30789510 2020
24
Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature. 62
30461425 2019
25
Late onset nevus comedonicus of scalp: a rare site for an uncommon condition. 62
30982310 2019
26
Dermoscopy of nevus comedonicus. 62
31909387 2019
27
Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus. 62
30066947 2018
28
Congenital nevus comedonicus complicated by a hidradenitis suppurativa-like lesion: Report of a childhood case. 62
29952017 2018
29
Extensive Nevus Comedonicus, Complicated with Recurrent Abscesses, Successfully Treated with Surgical Resurfacing. 62
29731591 2018
30
Nevus Comedonicus on Scalp: An Unusual Presentation. 62
29440859 2018
31
Epidermal nevus syndromes: New insights into whorls and swirls. 62
29044700 2018
32
Nevus Comedonicus: Case Report. 62
29118701 2017
33
Dermoscopy of Nevus Comedonicus. 62
28979887 2017
34
Successful treatment to a tretinoin/clindamycin gel in a late onset of nevus comedonicus. 62
28295844 2017
35
Ultrapulse carbon dioxide laser treatment for bilateral facial nevus comedonicus: A case report. 62
28198069 2017
36
Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. 62
28293556 2017
37
Isotretinoin and Surgical Extraction for Adult-Onset Nevus Comedonicus. 62
28859748 2017
38
[Nevus comedonicus: Somatic mutations in NEK9]. 62
27659387 2017
39
Bilateral nevus comedonicus of the eyelids associated with bladder cancer and successful treatment with topical tretinoin. 62
27502087 2016
40
Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. 62
27470329 2016
41
Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. 62
28300931 2016
42
Extensive unilateral nevus comedonicus without genetic abnormality. 62
28329617 2016
43
Nevus Comedonicus Syndrome. 62
26288437 2015
44
IMAGES IN CLINICAL MEDICINE. Nevus Comedonicus. 62
26107054 2015
45
Nevus comedonicus: a case series. 62
25557057 2015
46
Nevus comedonicus on scalp: a rare site. 62
25657429 2015
47
[Nevus comedonicus]. 62
25530576 2015
48
Epidermal nevus syndromes. 62
26564089 2015
49
Late-onset nevus comedonicus on both eyelids with hypothyroidism. 62
25566577 2014
50
Extensive nevus comedonicus. 62
25396147 2014

Variations for Nevus Comedonicus

ClinVar genetic disease variations for Nevus Comedonicus:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK9 NM_033116.6(NEK9):c.1715G>T (p.Gly572Val) SNV Pathogenic
242987 rs886037839 GRCh37: 14:75570561-75570561
GRCh38: 14:75103858-75103858
2 NEK9 NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr) SNV Pathogenic
242988 rs1555352529 GRCh37: 14:75570558-75570558
GRCh38: 14:75103855-75103855
3 NEK9 NM_033116.6(NEK9):c.500T>C (p.Ile167Thr) SNV Pathogenic
243002 rs879253775 GRCh37: 14:75587237-75587237
GRCh38: 14:75120534-75120534

UniProtKB/Swiss-Prot genetic disease variations for Nevus Comedonicus:

73
# Symbol AA change Variation ID SNP ID
1 NEK9 p.Ile167Thr VAR_077801 rs879253775
2 NEK9 p.Ile573Thr VAR_077802 rs1555352529

Expression for Nevus Comedonicus

Search GEO for disease gene expression data for Nevus Comedonicus.

Pathways for Nevus Comedonicus

GO Terms for Nevus Comedonicus

Sources for Nevus Comedonicus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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