Extensive nevus comedonicus

Mahajan, Rashmi; Shah, Mitali M; Ninama, Kishan; Bilimoria, Freny E

doi:10.4103/2229-5178.142535

Cited by 2 publications

(3 citation statements)

References 5 publications

(5 reference statements)

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“…NC is an epidermal nevus involving the pilosebaceous unit ( 27 ); the etiology of NC requires further investigation. Recently, the underlying signaling pathways associated with acne and the somatic mutations of tyrosine kinase receptors have been identified, and may serve a role in the development of NC ( 11 , 13 ). The present study revealed that the typical histopathology of NC was associated with large dilated follicular ostia filled with keratinous layers, similar to that of KP.…”

Section: Discussionmentioning

confidence: 99%

“…The pathogenesis of NC is yet to be investigated. Genetic studies have revealed that the fibroblast growth factor (FGF) and FGF receptor-2 signaling pathways, and somatic mutations of tyrosine kinase receptors or never in mitosis gene A-related kinase 9 ( 12 ) may be associated with the development of NC ( 13 ). The clinical features of NC include grouped, dilated hair follicles with a dark, firm hyperkeratotic plug at the center.…”

Section: Introductionmentioning

confidence: 99%

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Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

et al. 2018

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Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of the present study was to identify the disease-causing genes and their association with functional alterations in the development of KP and NC. Peripheral blood samples of one KP family, two NC families and 100 unrelated healthy controls were collected. The genomic sequences of 147 genes associated with 143 genetic skin diseases were initially analyzed from the KP proband using a custom-designed GeneChip. A novel heterozygous missense mutation in the ATP-binding cassette sub-family A member 12 (ABCA12) gene, designated c.6694G>T (p.Asp2232Tyr), was identified in the KP proband and confirmed by Sanger sequencing. The same mutation was also present in the affected family members but not in the healthy family members, the two patients with NC or population-matched controls. The predictions provided by PolyPhen-2 and SIFT analyses suggested that the mutation may produce a damaged protein. The region surrounding the mutation is the extra-membrane domain, which is conserved among particular species, as suggested by ClustalX; however, no ABCA12 mutations were reported in the patients with NC. As observed by immunofluorescence, ABCA12 expression was upregulated in the sebaceous glands of the patients with NC compared with that of normal controls. In summary, ABCA12-associated mutations or alterations in expression may exhibit causative or contributive effects to the development of keratinized dermatoses, including KP and NC.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

et al. 2018

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“…NC may affect areas without hair follicles and frequently involves the face, trunk, neck and upper limbs. Three patients with buttock involvement of NC have been reported and none presented with NC syndrome (NCS) [ 2 , 3 , 4 ]. NC presents shortly after birth in approximately half of patients and patients usually develop lesions before 10 years of age [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Nevus Comedonicus Syndrome Associated with Psychiatric Disorder

Woo

Kim

2022

Diagnostics

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Nevus comedonicus (NC) is a rare hamartoma of the pilosebaceous unit origin. The association with extracutaneous abnormalities defines NC syndrome (NCS). Fewer than 50 cases of NCS have been reported in the English literature. A 31-year-old woman presented with grouped and linear comedonal papules present from birth and located on the left buttock along Blaschko’s lines. She had a history of pediatric mood disorder combined with attention-deficit hyperactivity disorder (ADHD) from 5 years of age and was recently diagnosed with sinus bradycardia. Her skin lesion was surgically removed and microscopic findings revealed the aggregation of dilated follicular infundibula filled with prominent laminated keratin plugs, a characteristic finding of NC. This is the first report presenting NCS associated with mood disorder and ADHD. Psychiatric symptoms may represent systemic manifestation of NCS.

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Extensive nevus comedonicus

Cited by 2 publications

References 5 publications

Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

Nevus Comedonicus Syndrome Associated with Psychiatric Disorder

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