NC
MCID: NVS015
MIFTS: 39

Nevus Comedonicus (NC)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nevus Comedonicus

MalaCards integrated aliases for Nevus Comedonicus:

Name: Nevus Comedonicus 57 20 72 29 6 70
Nevus Comedonicus Syndrome 20 58
Nc 57 72
Nevus Comedonicus, Somatic 57
Comedone Naevus 20
Comedo Naevus 20

Characteristics:

Orphanet epidemiological data:

58
nevus comedonicus syndrome
Inheritance: Not applicable;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation


HPO:

31
nevus comedonicus:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Nevus Comedonicus

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64754 Definition 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.

MalaCards based summary : Nevus Comedonicus, also known as nevus comedonicus syndrome, is related to epidermolytic hyperkeratosis and keratosis. An important gene associated with Nevus Comedonicus is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skin, bone and heart, 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Nevus comedonicus: 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.

Wikipedia : 73 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 73)
# Related Disease Score Top Affiliating Genes
1 epidermolytic hyperkeratosis 30.2 FLG ABCA12
2 keratosis 30.2 FLG ABCA12
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
4 nevus, epidermal 10.5
5 autosomal dominant epidermolytic ichthyosis 10.4
6 acne 10.3
7 tooth agenesis 10.1
8 ptosis 10.1
9 ectropion 10.1
10 pneumothorax 10.1
11 hidradenitis suppurativa 10.1
12 hidradenitis 10.1
13 skin disease 10.1
14 cataract 10.1
15 erythrokeratoderma ''en cocardes'' 10.1
16 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
17 split-hand/foot malformation 1 10.1
18 ifap syndrome 2 10.1
19 ectodermal dysplasia 10.1
20 cleft lip 10.1
21 blepharitis 10.1
22 cleft lip/palate 10.1
23 isolated split hand-split foot malformation 10.1
24 bladder cancer 10.0
25 epidermoid cysts 10.0
26 birt-hogg-dube syndrome 10.0
27 spondylosis, cervical 10.0
28 chromosome 2q35 duplication syndrome 10.0
29 atrophoderma vermiculata 10.0
30 body mass index quantitative trait locus 11 10.0
31 body mass index quantitative trait locus 9 10.0
32 body mass index quantitative trait locus 8 10.0
33 polydactyly 10.0
34 body mass index quantitative trait locus 4 10.0
35 body mass index quantitative trait locus 10 10.0
36 body mass index quantitative trait locus 7 10.0
37 body mass index quantitative trait locus 12 10.0
38 body mass index quantitative trait locus 14 10.0
39 tumor predisposition syndrome 10.0
40 cutaneous telangiectasia and cancer syndrome, familial 10.0
41 body mass index quantitative trait locus 18 10.0
42 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
43 body mass index quantitative trait locus 19 10.0
44 scoliosis 10.0
45 bone disease 10.0
46 hypothyroidism 10.0
47 clear cell acanthoma 10.0
48 acanthoma 10.0
49 spondylosis 10.0
50 skin atrophy 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 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hamartoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0010566
2 comedo 58 31 hallmark (90%) Very frequent (99-80%) HP:0025249
3 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
4 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
5 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
6 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
7 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
8 nevus flammeus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001052
9 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
10 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
11 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
12 preaxial polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100258
13 seizure 31 occasional (7.5%) HP:0001250
14 abnormal hair morphology 31 occasional (7.5%) HP:0001595
15 seizures 58 Occasional (29-5%)
16 spina bifida 58 Occasional (29-5%)
17 abnormality of the foot 58 Occasional (29-5%)
18 abnormality of the hair 58 Occasional (29-5%)
19 nevus comedonicus 31 HP:0020154

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 NEK9

Anatomical Context for Nevus Comedonicus

MalaCards organs/tissues related to Nevus Comedonicus:

40
Skin, Bone, Heart, Lung, Thyroid, Tongue, Breast

Publications for Nevus Comedonicus

Articles related to Nevus Comedonicus:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Somatic Mutations in NEK9 Cause Nevus Comedonicus. 61 57 6
27153399 2016
2
Nevus comedonicus: an updated review. 61 57
23888253 2013
3
Nevus comedonicus syndrome: A systematic review of the literature. 61
33481271 2021
4
Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion. 61
32984649 2020
5
Dermoscopy of late-onset nevus comedonicus. 61
33008657 2020
6
Punctate porokeratosis-pruritic and hyperkeratotic papules on the palms and feet. 61
32675969 2020
7
Nevus Comedonicus Suppurativa: A Report of a Novel Entity. 61
32884617 2020
8
Successful treatment of late-onset nevus comedonicus with Er:YAG laser. 61
31328868 2020
9
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. 61
31961058 2020
10
Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion. 61
31909294 2020
11
Improvement of nevus comedonicus after repeated microneedling. 61
32042876 2020
12
A Microneedling Fractional Radiofrequency Device for the Treatment of Nevus Comedonicus. 61
30789510 2020
13
Nevus Comedonicus With Acne Vulgaris and Obesity. 61
31921493 2020
14
Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature. 61
30461425 2019
15
Late onset nevus comedonicus of scalp: a rare site for an uncommon condition. 61
30982310 2019
16
Dermoscopy of nevus comedonicus. 61
31909387 2019
17
Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus. 61
30066947 2018
18
Congenital nevus comedonicus complicated by a hidradenitis suppurativa-like lesion: Report of a childhood case. 61
29952017 2018
19
Extensive Nevus Comedonicus, Complicated with Recurrent Abscesses, Successfully Treated with Surgical Resurfacing. 61
29731591 2018
20
Epidermal nevus syndromes: New insights into whorls and swirls. 61
29044700 2018
21
Nevus Comedonicus on Scalp: An Unusual Presentation. 61
29440859 2018
22
Dermoscopy of Nevus Comedonicus. 61
28979887 2017
23
Nevus Comedonicus: Case Report. 61
29118701 2017
24
Successful treatment to a tretinoin/clindamycin gel in a late onset of nevus comedonicus. 61
28295844 2017
25
Ultrapulse carbon dioxide laser treatment for bilateral facial nevus comedonicus: A case report. 61
28198069 2017
26
Isotretinoin and Surgical Extraction for Adult-Onset Nevus Comedonicus. 61
28859748 2017
27
[Nevus comedonicus: Somatic mutations in NEK9]. 61
27659387 2017
28
Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. 61
28293556 2017
29
Bilateral nevus comedonicus of the eyelids associated with bladder cancer and successful treatment with topical tretinoin. 61
27502087 2016
30
Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. 61
27470329 2016
31
Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. 61
28300931 2016
32
Extensive unilateral nevus comedonicus without genetic abnormality. 61
28329617 2016
33
Nevus Comedonicus Syndrome. 61
26288437 2015
34
IMAGES IN CLINICAL MEDICINE. Nevus Comedonicus. 61
26107054 2015
35
Nevus comedonicus: a case series. 61
25557057 2015
36
[Nevus comedonicus]. 61
25530576 2015
37
Nevus comedonicus on scalp: a rare site. 61
25657429 2015
38
Epidermal nevus syndromes. 61
26564089 2015
39
Late-onset nevus comedonicus on both eyelids with hypothyroidism. 61
25566577 2014
40
Extensive nevus comedonicus. 61
25396147 2014
41
Two Concurrent Facial Epidermal Nevi without Systemic Abnormalities: Nevus Sebaceus and Nevus Comedonicus. 61
25143681 2014
42
Extensive nevus comedonicus involving the palm: questionable role of the pilosebaceous unit in pathogenesis. 61
24889929 2014
43
Inflammatory nevus comedonicus with epidermoid cyst. 61
25071281 2014
44
Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes? 61
24517846 2014
45
Nevus comedonicus of the scalp. 61
24720088 2014
46
Acneiform eruptions. 61
24314375 2014
47
Unilateral facial nevus comedonicus. 61
24413514 2013
48
Dermoscopy on nevus comedonicus: a case report and review of the literature. 61
24278083 2013
49
Carmakila: An effective management by kshara karma. 61
24250149 2013
50
Bilateral nevus comedonicus of the eyelids. 61
23328782 2013

Variations for Nevus Comedonicus

ClinVar genetic disease variations for Nevus Comedonicus:

6
# 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:

72
# Symbol AA change Variation ID SNP ID
1 NEK9 p.Ile167Thr VAR_077801 rs879253775
2 NEK9 p.Ile573Thr VAR_077802 rs155535252

Expression for Nevus Comedonicus

Search GEO for disease gene expression data for Nevus Comedonicus.

Pathways for Nevus Comedonicus

GO Terms for Nevus Comedonicus

Biological processes related to Nevus Comedonicus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 8.96 FLG ABCA12
2 establishment of skin barrier GO:0061436 8.62 FLG ABCA12

Sources for Nevus Comedonicus

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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