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Nevus comedonicus syndrome(NC)

MedGen UID:
75592
Concept ID:
C0265987
Neoplastic Process
Synonym: Nevus comedonicus
SNOMED CT: Comedo nevus (35962006); Acneiform nevus (35962006); Follicular nevus (35962006); Acne nevus (35962006); Pilosebaceous nevoid disorder (35962006); Nevus comedonicus (35962006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): NEK9 (14q24.3)
 
HPO: HP:0020154
Monarch Initiative: MONDO:0014873
OMIM®: 617025
Orphanet: ORPHA64754

Definition

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). [from OMIM]

Clinical features

From HPO
Nevus comedonicus syndrome
MedGen UID:
75592
Concept ID:
C0265987
Neoplastic Process
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNevus comedonicus syndrome
Follow this link to review classifications for Nevus comedonicus syndrome in Orphanet.

Conditions with this feature

Nevus comedonicus syndrome
MedGen UID:
75592
Concept ID:
C0265987
Neoplastic Process
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).

Recent clinical studies

Etiology

Asch S, Sugarman JL
Handb Clin Neurol 2015;132:291-316. doi: 10.1016/B978-0-444-62702-5.00022-6. PMID: 26564089
Ferrari B, Taliercio V, Restrepo P, Luna P, Abad ME, Larralde M
Pediatr Dermatol 2015 Mar-Apr;32(2):216-9. Epub 2014 Dec 29 doi: 10.1111/pde.12466. PMID: 25557057
Happle R
J Am Acad Dermatol 2010 Jul;63(1):1-22; quiz 23-4. doi: 10.1016/j.jaad.2010.01.017. PMID: 20542174
Patrizi A, Neri I, Fiorentini C, Marzaduri S
Pediatr Dermatol 1998 Jul-Aug;15(4):304-6. doi: 10.1046/j.1525-1470.1998.1998015304.x. PMID: 9720699
Happle R
J Am Acad Dermatol 1991 Sep;25(3):550-6. doi: 10.1016/0190-9622(91)70238-w. PMID: 1918493

Diagnosis

Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Ferrari B, Taliercio V, Restrepo P, Luna P, Abad ME, Larralde M
Pediatr Dermatol 2015 Mar-Apr;32(2):216-9. Epub 2014 Dec 29 doi: 10.1111/pde.12466. PMID: 25557057
Sugarman JL
Semin Cutan Med Surg 2007 Dec;26(4):221-30. doi: 10.1016/j.sder.2008.03.006. PMID: 18395670
Sugarman JL
Semin Cutan Med Surg 2004 Jun;23(2):145-57. doi: 10.1016/j.sder.2004.01.008. PMID: 15295924
Happle R
Semin Dermatol 1995 Jun;14(2):111-21. doi: 10.1016/s1085-5629(05)80006-9. PMID: 7640190

Therapy

Ravaioli GM, Neri I, Zannetti G, Patrizi A
Pediatr Dermatol 2018 Sep;35(5):e298-e299. Epub 2018 Jun 27 doi: 10.1111/pde.13574. PMID: 29952017
Alpsoy E, Durusoy C, Ozbilim G, Karpuzoğlu G, Yilmaz E
Int J Dermatol 2005 Jun;44(6):499-501. doi: 10.1111/j.1365-4632.2005.02055.x. PMID: 15941441

Prognosis

Ferrari B, Taliercio V, Restrepo P, Luna P, Abad ME, Larralde M
Pediatr Dermatol 2015 Mar-Apr;32(2):216-9. Epub 2014 Dec 29 doi: 10.1111/pde.12466. PMID: 25557057

Recent systematic reviews

Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271

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