NC
MCID: NVS015
MIFTS: 35
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Nevus Comedonicus (NC)
Categories:
Genetic diseases, Mental diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nevus Comedonicus:Characteristics:Inheritance:
Somatic mutation 57
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Mental diseases
ICD10:
32
Orphanet: 58
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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... |
Human phenotypes related to Nevus Comedonicus:58 30 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617025 (Updated 08-Dec-2022) |
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Organs/tissues related to Nevus Comedonicus:
MalaCards :
Skin,
Breast,
Lung,
Bone
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Articles related to Nevus Comedonicus:(show top 50) (show all 155)
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ClinVar genetic disease variations for Nevus Comedonicus:5
UniProtKB/Swiss-Prot genetic disease variations for Nevus Comedonicus:73
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