MCID: NVS015
MIFTS: 34

Nevus Comedonicus

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nevus Comedonicus

MalaCards integrated aliases for Nevus Comedonicus:

Name: Nevus Comedonicus 57 53 75 6 73
Nevus Comedonicus Syndrome 53 59
Nc 57 75
Nevus Comedonicus, Somatic 57
Comedone Naevus 53
Comedo Naevus 53

Characteristics:

Orphanet epidemiological data:

59
nevus comedonicus syndrome
Inheritance: Not applicable;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
nevus comedonicus:
Inheritance somatic mutation


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Nevus Comedonicus

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)

MalaCards based summary : Nevus Comedonicus, also known as nevus comedonicus syndrome, is related to renal nutcracker syndrome and x-linked charcot-marie-tooth disease. An important gene associated with Nevus Comedonicus is NEK9 (NIMA Related Kinase 9). Affiliated tissues include skin and bone, and related phenotypes are hamartoma and comedo

UniProtKB/Swiss-Prot : 75 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 : 76 Nevus comedonicus (also known as a \"comedo nevus\") is characterized by closely arranged, grouped,... 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 70)
# Related Disease Score Top Affiliating Genes
1 renal nutcracker syndrome 11.1
2 x-linked charcot-marie-tooth disease 11.0
3 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.8
4 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.8
5 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 10.8
6 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 10.8
7 congenital myasthenic syndrome 10.8
8 dermatitis 10.6
9 dermatitis, atopic 10.6
10 epidermolytic hyperkeratosis 10.3
11 neuronitis 10.0
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.9
13 ectodermal dysplasia 9.9
14 bladder cancer 9.9
15 breast cancer 9.9
16 epidermoid cysts 9.9
17 nevus, epidermal 9.9
18 basal cell carcinoma 1 9.9
19 bone disease 9.9
20 hypothyroidism 9.9
21 hidradenitis suppurativa 9.9
22 hidradenitis 9.9
23 basal cell carcinoma 9.9
24 keratoacanthoma 9.9
25 hidradenoma 9.9
26 orofaciodigital syndrome 9.9
27 syringocystadenoma papilliferum 9.9
28 basal cell carcinoma, multiple 9.9
29 tobacco addiction 9.8
30 human immunodeficiency virus type 1 9.8
31 smoking as a quantitative trait locus 3 9.8
32 diabetic polyneuropathy 9.8
33 polyneuropathy 9.8
34 machado-joseph disease 9.7
35 erythermalgia, primary 9.7
36 prostate cancer 9.7
37 asthma 9.7
38 cervical cancer 9.7
39 malaria 9.7
40 gastric cancer 9.7
41 glomerulonephritis 9.7
42 skin conditions 9.7
43 skin disease 9.7
44 spinal cord injury 9.7
45 thalassemia 9.7
46 janus kinase-3 deficiency 9.7
47 borderline personality disorder 9.7
48 hemosiderosis 9.7
49 pathological gambling 9.7
50 prostatitis 9.7

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



Diseases related to Nevus Comedonicus

Symptoms & Phenotypes for Nevus Comedonicus

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nevus Comedonicus:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hamartoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0010566
2 comedo 59 32 hallmark (90%) Very frequent (99-80%) HP:0025249
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nevus flammeus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001052
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 abnormality of the hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0001595
8 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
11 abnormal vertebral morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0003468
12 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
13 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
14 preaxial polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100258
15 abnormality of the foot 59 Occasional (29-5%)
16 spina bifida 59 Occasional (29-5%)

Drugs & Therapeutics for Nevus Comedonicus

Search Clinical Trials , NIH Clinical Center for Nevus Comedonicus

Genetic Tests for Nevus Comedonicus

Anatomical Context for Nevus Comedonicus

MalaCards organs/tissues related to Nevus Comedonicus:

41
Skin, Bone

Publications for Nevus Comedonicus

Articles related to Nevus Comedonicus:

(show all 49)
# Title Authors Year
1
Nevus Comedonicus on Scalp: An Unusual Presentation. ( 29440859 )
2018
2
Extensive Nevus Comedonicus, Complicated with Recurrent Abscesses, Successfully Treated with Surgical Resurfacing. ( 29731591 )
2018
3
Congenital nevus comedonicus complicated by a hidradenitis suppurativa-like lesion: Report of a childhood case. ( 29952017 )
2018
4
Ultrapulse carbon dioxide laser treatment for bilateral facial nevus comedonicus: A case report. ( 28198069 )
2017
5
Isotretinoin and Surgical Extraction for Adult-Onset Nevus Comedonicus. ( 28859748 )
2017
6
Successful treatment to a tretinoin/clindamycin gel in a late onset of nevus comedonicus. ( 28295844 )
2017
7
Nevus Comedonicus: Case Report. ( 29118701 )
2017
8
Nevus Comedonicus ( 28722932 )
2017
9
Dermoscopy of Nevus Comedonicus. ( 28979887 )
2017
10
Extensive unilateral nevus comedonicus without genetic abnormality. ( 28329617 )
2016
11
Birt-Hogg-DubAc Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. ( 27470329 )
2016
12
Bilateral nevus comedonicus of the eyelids associated with bladder cancer and successful treatment with topical tretinoin. ( 27502087 )
2016
13
Somatic Mutations in NEK9 Cause Nevus Comedonicus. ( 27153399 )
2016
14
Nevus comedonicus on scalp: a rare site. ( 25657429 )
2015
15
IMAGES IN CLINICAL MEDICINE. Nevus Comedonicus. ( 26107054 )
2015
16
Nevus Comedonicus Syndrome. ( 26288437 )
2015
17
Nevus comedonicus: a case series. ( 25557057 )
2015
18
Nevus comedonicus of the scalp. ( 24720088 )
2014
19
Two Concurrent Facial Epidermal Nevi without Systemic Abnormalities: Nevus Sebaceus and Nevus Comedonicus. ( 25143681 )
2014
20
Late-onset nevus comedonicus on both eyelids with hypothyroidism. ( 25566577 )
2014
21
Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes? ( 24517846 )
2014
22
Inflammatory nevus comedonicus with epidermoid cyst. ( 25071281 )
2014
23
Extensive nevus comedonicus. ( 25396147 )
2014
24
Extensive nevus comedonicus involving the palm: questionable role of the pilosebaceous unit in pathogenesis. ( 24889929 )
2014
25
Nevus comedonicus: an updated review. ( 23888253 )
2013
26
Dermoscopy on nevus comedonicus: a case report and review of the literature. ( 24278083 )
2013
27
Bilateral nevus comedonicus syndrome. ( 24031154 )
2013
28
Residents' corner May 2013. sQUIZ your knowledge! Nevus comedonicus. ( 24394969 )
2013
29
Unilateral facial nevus comedonicus. ( 24413514 )
2013
30
Bilateral nevus comedonicus of the eyelids. ( 23328782 )
2013
31
Keratoacanthoma arising in nevus comedonicus. ( 22863626 )
2012
32
Nevus comedonicus syndrome. ( 22345795 )
2011
33
Nevus comedonicus syndrome--nevus comedonicus associated with ipsilateral polysyndactyly and bilateral oligodontia. ( 20653857 )
2010
34
Cytokeratin and filaggrin expression in nevus comedonicus. ( 17381805 )
2007
35
Nevus comedonicus with epidermolytic hyperkeratosis. ( 17337416 )
2007
36
Nevus comedonicus syndrome in a woman with Paget bone disease and breast cancer: a mere coincidence? ( 17229620 )
2006
37
Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe. ( 15941441 )
2005
38
Linear nevus comedonicus with epidermolytic hyperkeratosis. ( 15239681 )
2004
39
Nevus comedonicus--case report and review of therapeutical approach. ( 14670222 )
2003
40
Nevus comedonicus with hidradenoma papilliferum and syringocystadenoma papilliferum in the female genital area. ( 12530358 )
2002
41
A case of nevus comedonicus syndrome associated with neurologic and skeletal abnormalities. ( 11737427 )
2001
42
Nevus comedonicus syndrome: a new pediatric case. ( 9720699 )
1998
43
Tissue expansion in a patient with extensive nevus comedonicus. ( 1466535 )
1992
44
Nevus comedonicus associated with epidermal nevus. ( 2808839 )
1989
45
Nevus comedonicus with epidermolytic hyperkeratosis. ( 3556706 )
1987
46
Generalized epidermolytic hyperkeratosis in the child of a parent with nevus comedonicus. ( 6696475 )
1984
47
Nevus comedonicus syndrome. ( 7059193 )
1982
48
Nevus comedonicus with epidermolytic hyperkeratosis. A report of four cases. ( 7008704 )
1981
49
The nevus comedonicus syndrome: a case report with emphasis on associated internal manifestations. ( 730460 )
1978

Variations for Nevus Comedonicus

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

75
# Symbol AA change Variation ID SNP ID
1 NEK9 p.Ile167Thr VAR_077801 rs879253775
2 NEK9 p.Ile573Thr VAR_077802

ClinVar genetic disease variations for Nevus Comedonicus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK9 NM_033116.5(NEK9): c.1715G> T (p.Gly572Val) single nucleotide variant no interpretation for the single variant rs886037839 GRCh38 Chromosome 14, 75103858: 75103858
2 NEK9 NM_033116.5(NEK9): c.1715G> T (p.Gly572Val) single nucleotide variant no interpretation for the single variant rs886037839 GRCh37 Chromosome 14, 75570561: 75570561
3 NEK9 NM_033116.4(NEK9): c.1817T> C (p.Ile573Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 75103855: 75103855
4 NEK9 NM_033116.4(NEK9): c.1817T> C (p.Ile573Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 75570558: 75570558
5 NEK9 NM_033116.5(NEK9): c.500T> C (p.Ile167Thr) single nucleotide variant Pathogenic rs879253775 GRCh37 Chromosome 14, 75587237: 75587237
6 NEK9 NM_033116.5(NEK9): c.500T> C (p.Ile167Thr) single nucleotide variant Pathogenic rs879253775 GRCh38 Chromosome 14, 75120534: 75120534
7 NEK9 NM_033116.5(NEK9): c.1731+1G> T single nucleotide variant no interpretation for the single variant rs886037838 GRCh38 Chromosome 14, 75103841: 75103841
8 NEK9 NM_033116.5(NEK9): c.1731+1G> T single nucleotide variant no interpretation for the single variant rs886037838 GRCh37 Chromosome 14, 75570544: 75570544

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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