Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Letter to the Editor - Observation Letter
2020:86:3;316-318
doi: 10.4103/ijdvl.IJDVL_282_18
PMID: 32209754

Blaschkoid hypermelanosis in a patient with ring 18 chromosome

Eduardo Varas-Meis, Sonsoles Delgado-Vicente, Paula Fernández-Canga, Manuel ngel Rodríguez Prieto
 Department of Dermatology, Complejo Asistencial Universitario de León, León, Spain

Correspondence Address:
Eduardo Varas-Meis
Department of Dermatology, Complejo Asistencial Universitario de León, Altos de Navas S/N, 24080 León
Spain
Published: 24-Mar-2020
How to cite this article:
Varas-Meis E, Delgado-Vicente S, Fernández-Canga P, Rodríguez Prieto M. Blaschkoid hypermelanosis in a patient with ring 18 chromosome. Indian J Dermatol Venereol Leprol 2020;86:316-318
Copyright: (C)2020 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Linear and whorled nevoid hypermelanosis is a rare sporadic pigmentary anomaly occurring in blaschkoid distribution. It has been associated with several chromosomopathies including trisomy 7, 14, 18, 20, inversion of chromosome 9 and X-chromosomal mosaicism.[1],[2],[3],[4],[5]

Ring chromosomes usually occur “de novo” due to deletion and fusion of both ends of chromosome. Ring chromosome 18 is a rare disorder characterized by severe mental retardation, microcephaly, brain and ocular malformations, hypotonia, skeletal abnormalities and immunological disorders.[6],[7]

A 4-year-old boy, after a full-term birth from eutocic delivery was diagnosed with microcephaly, psychomotor retardation, generalized hypotonia and impaired ambulation. His father had a factor V Leiden heterozygous mutation. The comparative genomic hybridization of peripheral blood demonstrated a ring 18 chromosome with 17% mosaicism. He was referred to the dermatology department due to a 3-year history of stable and asymptomatic hyperpigmented lesions which appeared within the first month of life. Upon examination, we observed a bilateral and symmetrical thoracoabdominal macular hyperpigmentation in blaschkoid distribution with midline demarcation. There were no associated hypopigmented macules or other cutaneous primary lesions [Figure - 1]. On complete examination, the patient was found to have slightly low-set ears with no other adnexal, mucosal or musculoskeletal associated abnormalities [Figure - 2].

Figure 1: Macular linear hyperpigmentation on the right thoracoabdominal area with midline demarcation
Figure 2: Low-set ear

Linear and whorled nevoid hypermelanosis, a rare sporadic pigmentary anomaly is characterized by swirls and streaks of macular hyperpigmentation in blaschkoid distribution, as described by Kalter et al. in 1988.[1] Classically, it is seen within the first 2 years of age and is distributed mainly over the trunk, neck and extremities, sparing the palms, soles and mucosa. Lesions appear without preceding inflammation, rash or injury and progress for a year or two before stabilization.[2],[3],[4],[5] No satisfactory treatments are currently available but in some patients, macules become less prominent with age. The histopathological findings reveal diffuse epidermal hyperpigmentation in the basal layer without melanocytic proliferation or pigmentary incontinence.[1],[2],[3],[4],[5]

Linear and whorled nevoid hypermelanosis has been related to the pigmentation variability in cellular mosaicisms leading to distinct population of melanocytes with different potentials of pigment production. Frequently, it has been associated with chromosomopathies including trisomy 7, 14, 18, 20, inversion of chromosome 9 and X-chromosomal mosaicism. However, its underlying pathogenesis is yet unknown. In the literature, rare cases associated with extracutaneous manifestations have been reported, mostly with cardiac defects, developmental and growth retardation or body asymmetries, among others.[2],[3],[4],[5]

The differential diagnoses include pigmentary stage of incontinentia pigmenti, hypomelanosis of Ito, early-stage linear epidermal nevus and Goltz syndrome. The clinical absence of preceding vesicular or verrucous lesions, and microscopic findings lacking pigmentary incontinence, papillomatosis, rete ridge elongation or dermal hypoplasia differentiate the linear and whorled nevoid hypermelanosis from these diseases.[3],[4] In addition, it should be remembered that early stages of incontinentia pigmenti could take place in-utero, recommending a histological examination to rule out this diagnosis.

In conclusion, we present a linear and whorled nevoid hypermelanosis in association with a mosaic ring 18 chromosome. We were unable to find any previous reports of this syndrome associated with cutaneous hypermelanosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References
1.
Kalter DC, Griffiths WA, Atherton DJ. Linear and whorled nevoid hypermelanosis. J Am Acad Dermatol 1988;19:1037-44.
[Google Scholar]
2.
Di Lernia V. Linear and whorled hypermelanosis. Pediatr Dermatol 2007;24:205-10.
[Google Scholar]
3.
Ito T, Yoshida Y, Goto H, Furue M, Yamamoto O. Linear and whorled nevoid hypermelanosis with tetralogy of fallot. Indian J Dermatol 2015;60:325.
[Google Scholar]
4.
Hong SP, Ahn SY, Lee WS. Linear and whorled nevoid hypermelanosis: Unique clinical presentations and their possible association with chromosomal abnormality inv (9). Arch Dermatol 2008;144:415-6.
[Google Scholar]
5.
Komine M, Hino M, Shiina M, Kanazawa I, Soma Y, Tamaki K. Linear and whorled naevoid hypermelanosis: A case with systemic involvement and trisomy 18 mosaicism. Br J Dermatol 2002;146:500-2.
[Google Scholar]
6.
Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, et al. De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. Eur J Med Genet 2011;54:329-32.
[Google Scholar]
7.
Heydari S, Hassanzadeh F, Hassanzadeh Nazarabadi M. Ring chromosome 18: A case report. Int J Mol Cell Med 2014;3:287-9.
[Google Scholar]

Fulltext Views
2,339

PDF downloads
1,141
Show Sections