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LETTER TO EDITOR
Year : 2022  |  Volume : 23  |  Issue : 1  |  Page : 95-97

Linear and whorled nevoid hypermelanosis with pigmentary incontinence and congenital malformations


1 Department of Dermatology, Carlos Luis Valverde Vega Hospital, San Ramón, Alajuela, Costa Rica
2 Primary Care Medicine, Carlos Luis Valverde Vega Hospital, San Ramón, Alajuela, Costa Rica
3 Department of Pathology, Green Clinics Laboratory, Dover, Delaware, USA

Date of Submission29-Jun-2020
Date of Decision28-Jul-2020
Date of Acceptance14-Sep-2021
Date of Web Publication31-Dec-2021

Correspondence Address:
Kenneth Salazar Madrigal
Department of Dermatology, Carlos Luis Valverde Vega Hospital, San Ramón, Alajuela
Costa Rica
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_112_20

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How to cite this article:
Madrigal KS, Alfaro NC, Morales-Neira D. Linear and whorled nevoid hypermelanosis with pigmentary incontinence and congenital malformations. Indian J Paediatr Dermatol 2022;23:95-7

How to cite this URL:
Madrigal KS, Alfaro NC, Morales-Neira D. Linear and whorled nevoid hypermelanosis with pigmentary incontinence and congenital malformations. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 Jan 16];23:95-7. Available from: https://www.ijpd.in/text.asp?2022/23/1/95/334662



Sir,

Linear and whorled nevoid hypermelanosis (HNLE) is a pigmentary disorder resulting from the clonal migration and proliferation of embryological precursors of melanocytes. It appears in the first years of life and progresses slowly until stabilizing in childhood.[1]

It manifests as hyperpigmented macules with irregular borders and linear configuration that follow the  Lines of Blaschko More Details. Thirty per cent of the cases are associated with extracutaneous manifestations, being the neurologic and cardiac the most frequently reported, along with trisomies such as 7, 13, 14, 18, 20, X-linked mosaicisms, and other birth defects; it is an asymptomatic entity. To our knowledge, this is the first reported case of HNLE in Costa Rica.[1],[2]

A 2½-year-old boy from San Ramón of Alajuela (Costa Rica) was diagnosed with subtricuspid ventricular septal defect, patent ductus arteriosus, mild mitral regurgitation, pulmonary hypertension, phimosis, and Grade III right microtia according to the Altmann classification. The patient was brought to the dermatology outpatient service by his mother for presenting hyperpigmented linear macules, affecting predominantly the left hemibody, located on the neck, the posterior aspect of the thigh and the leg, since the first year of age. These lesions had remained stable since their appearance and were completely asymptomatic [Figure 1] and [Figure 2]. There was no recollection of skin lesions at birth (vesicles, blisters, or wart-like lesions), no mucosal or nail involvement was observed, and dentition was normal. Interestingly, the mother reported delayed speech and behavioral changes that required special education.
Figure 1: Grade III right microtia

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Figure 2: Hyperpigmented linear macules on the neck

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The patient was the product of a second gestation, with full-term vaginal delivery and an adequate weight for gestational age. Adequate prenatal control was carried out, with no significant perinatal history. No maternal history of drug addiction, irradiation, intake, or topical application of medications was reported that could cause hyperpigmentation during pregnancy. He was born to a Costa Rican mother and Nicaraguan father with no family history of pigmentary disorders, mental retardation, psychomotor development disorders, or other significant diseases. The mother denied any history of allergies and no previous surgical procedures. The vaccines recommended for his age were up to date.

Routine blood laboratory tests were requested and found to be within normal ranges. A biopsy from the anterior neck was performed, and histopathological examination with hematoxylin and eosin revealed hyperpigmentation of the epidermal basal layer and melanin pigment drop-out with melanophages observed in the dermis [Figure 3], supported by a Fontana-Masson stain [Figure 4]. Given the constellation of clinical context, histological and laboratory findings, a diagnosis of HNLE was rendered. A multidisciplinary management was provided for therapeutic support.
Figure 3: Hyperpigmentation of the epidermal basal layer and melanin pigment drop-out with melanophages in the dermis indicated with the arrow

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Figure 4: Hyperpigmentation of the epidermal basal layer and melanin pigment drop out with melanophages in the dermis (Fontana-Masson, ×100)

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In the differential diagnosis of HNLE, other pigmentary conditions that follow the Blaschko lines should be considered including the third stage of incontinence pigmenti, hypomelanosis of Ito, linear epidermal nevus and X-linked reticulate pigmentary disorder, epidermal nevus, and other reticular pigmentary dermopathies [Table 1].[1],[2],[3]
Table 1: Guide to differential diagnosis of linear pigmented lesion that follow the Blaschko lines

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The main histological differential diagnosis of HNLE is the third stage of incontinentia pigmenti (pigmented stage) that usually presents with pigment drop-out and the presence of melanophages in the dermis as the cardinal sign, findings that along with the clinical context differentiate it from HNLE; nevertheless, recent reports indicate that these findings might not necessarily be distinctive between the two diseases.[4],[5]

Despite the fact that at the moment, there is no specific treatment for HNLE, understanding its possible etiopathogenic mechanisms will improve the prognosis, the appearance of possible complications, and the approach to them. Awareness of this entity by dermatologists and general practitioners will allow patients to receive early and multidisciplinary care that ideally includes relevant genetic studies.[1],[2]

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Di Lernia V. Linear and whorled hypermelanosis. Pediatr Dermatol 2007;24:205-10.  Back to cited text no. 1
    
2.
Velásquez E, Alfaro L, Pech L. Hipermelanosis nevoide lineal y en espiral. Dermatol Rev Mex 2011;55:311-6.  Back to cited text no. 2
    
3.
Kim BS, Seo SH, Jung HD, Kwon KS, Kim MB. X-Linked reticulate pigmentary disorder in a female patient. Int J Dermatol 2010;49:421-5.  Back to cited text no. 3
    
4.
Pei-Ling C, Chih-Hung L. Linear and whorled nevoid hypermelanosis versus incontinencia pigmenti: Pigmentary incontinence is not a differential histological feature. Dermatol Sin 2016;34:221-2.  Back to cited text no. 4
    
5.
Delaporte E, Janin A, Blondel V, Copin MC, Piette F, de Martinville B, et al. Linear and whorled nevoid hypermelanosis versus incontinentia pigmenti: Is pigmentary incontinence really a distinctive feature? Dermatology 1996;192:70-2.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1]



 

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