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NC
MCID: NVS015
MIFTS: 39
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Nevus Comedonicus (NC)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nevus Comedonicus:
Characteristics:Orphanet epidemiological data:58
nevus comedonicus syndrome
Inheritance: Not applicable; HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare skin diseases |
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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... |
Human phenotypes related to Nevus Comedonicus:58 31 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:617025 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Nevus Comedonicus:40
Skin,
Bone,
Heart,
Lung,
Thyroid,
Tongue,
Breast
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Articles related to Nevus Comedonicus:(show top 50) (show all 145)
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Genes related to Nevus Comedonicus (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nevus Comedonicus:6
UniProtKB/Swiss-Prot genetic disease variations for Nevus Comedonicus:72
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Search
GEO
for disease gene expression data for Nevus Comedonicus.
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Biological processes related to Nevus Comedonicus according to GeneCards Suite gene sharing:
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