|Year : 2016 | Volume
| Issue : 1 | Page : 45-47
Central nervous system involvement in a case of segmental nevus depigmentosus
Ishita Majumdar1, Devdeep Mukherjee1, Sandipan Dhar2, Ritabrata Kundu1
1 Department of Pediatric Medicine, Institute of Child Health, Kolkata, West Bengal, India
2 Department of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India
|Date of Web Publication||4-Jan-2016|
AG-104 Sourav Abasan, Flat No. 5/4, Sector - 2, Salt Lake City, Kolkata - 700 091, West Bengal
Source of Support: None, Conflict of Interest: None
Central nervous system involvement in segmental nevus depigmentosus (SND) is rare. A 7-month-old boy having convulsion and segmental hypopigmented patch in the right inguinal region. Magnetic resonance imaging of brain showed bilateral periventricular white matter hypoplasia with prominent subarachnoid spaces and mild dilation of ventricles with mild left cerebral hemispheric atrophy. Association of SND with seizure and white matter lesion has been rarely reported.
Keywords: Segmental nevus depigmentosus, seizure, white matter hypoplasia
|How to cite this article:|
Majumdar I, Mukherjee D, Dhar S, Kundu R. Central nervous system involvement in a case of segmental nevus depigmentosus. Indian J Paediatr Dermatol 2016;17:45-7
|How to cite this URL:|
Majumdar I, Mukherjee D, Dhar S, Kundu R. Central nervous system involvement in a case of segmental nevus depigmentosus. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Dec 14];17:45-7. Available from: http://www.ijpd.in/text.asp?2016/17/1/45/173151
| Introduction|| |
Nevus depigmentosus (ND syn. nevus achromicus) is described as a congenital, nonfamilial and nonprogressive hypopigmented macule or patch. This is a benign condition which is primarily limited to the skin. However, extra-cutaneous manifestations in the form of seizures, mental retardation, and unilateral limb hypertrophy have been rarely reported. Here, we report a 7-month-old boy infant who presented with afebrile seizures and was found to have segmental ND (SND) in the right inguinal region and white matter hypoplasia in the brain.
| Case Report|| |
A 7-month-old boy infant born out of nonconsanguinity by normal vaginal delivery, having normal developmental milestones as per age was admitted in our institution with complain of two consecutive episodes (within 6 h) of generalized tonic-clonic seizures lasting for approximately 30 min each. Seizures were terminated with injection midazolam and were followed by prolonged postictal drowsiness. There was no previous history of the seizure of the child or within the family.
On examination, the child was afebrile. There were no apparent neurological deficits. His pupils were reacting symmetrically to light. There was no bulging of anterior fontanelle. Examination of respiratory, cardiac, and gastrointestinal systems did not reveal any significant abnormality.
A hypopigmented nonprogressive patch (9 cm by 7 cm) with irregular margin without surrounding hyperpigmentation and not crossing the midline was noted in the right inguinal region [Figure 1]. This patch had no sensory deficit. There were no other neurocutaneous stigmata in the child.
|Figure 1: A segmental hypopigmented lesion in right groin region with irregular margins and the lesion not crossing the midline|
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Sepsis screen, blood sugar, and electrolytes on admission were normal. Liver and renal function tests were also normal. A study of cerebrospinal fluid revealed zero cells with normal protein and sugar. Electroencephalography of the brain was also normal.
Magnetic resonance imaging (MRI) of the brain showed features of bilateral periventricular white matter hypoplasia (possibly due to white matter injury) with prominent subarachnoid spaces and mild dilatation of the ventricles. There was mild left cerebral hemispheric atrophy. The myelination pattern was, however, normal.
Diascopy was found to be negative. Wood's lamp examination of the hypopigmented patch showed off white patch without fluorescence suggestive of SND.
The child is presently on oral phenobarbitone and is in the regular follow-up. Over the last 2 months, there have been no further seizures and no new pigmentary changes. The development of the child is being closely monitored.
| Discussion|| |
ND, first described by Lesser in 1884 is a congenital disorder of pigmentation that remains stable in its relative size and distribution throughout the life and occurs equally in both sexes.
The pathogenesis behind ND is still controversial. It may occur as a result of defective functioning of melanosomes within the melanocytes or may occur as a result of cutaneous mosaicism with the melanocytes synthesizing less melanin. ND has three clinical patterns: Localized (most common), segmental, and whorled, or systematized. SND is characterized by a unilateral band of hypopigmented lesion along the Lines of Blaschko More Details, not crossing the midline. Our child with SND had the nonprogressive, hypopigmented lesion localized to the right inguinal region.
ND usually appears by infancy, with the common sites of distribution being the trunk, neck, face, and upper part of the limbs. 19.4% patients present with ND at birth, as our child did.
ND was diagnosed using Coupe's criteria. The diagnosis was confirmed using diascopy which was negative in our patient (unlike nevus anemicus). Wood's lamp examination was used to differentiate from vitiligo. Measurement of relative melanin index by a mexameter can assist in differentiating vitiligo and ND better than the previous use of melanin index. Since, the child did not have any other neurocutaneous stigmata, tuberous sclerosis was excluded.
The incidence of systemic abnormalities associated with SND has been rarely reported. The largest study in India on patients with SND has revealed a rare association with central nervous system involvement. The largest study on 20 children has reported just one child to have neurological problems characterized by seizures, mental retardation, and computed tomography scan changes along with hemihypertrophy. The other child had only pes cavus. Our child presented with seizures and changes in MRI.
The pigmentation in ND possibly occurs due to somatic mutation late in embryogenesis when organ development has already been completed. Hence extra-cutaneous manifestations are not commonly seen unlike in the systematized form of ND or Hypomelanosis of Ito (HOI) (62–94% chance of systemic involvement) which is one of the closest differential diagnosis where the pigmentary changes occur in the initial phase of embryogenesis. However, as our child had pigmentation localized to a segment, HOI was ruled out.
As ND is a nonprogressive skin lesion, the primary treatment involves counseling of parents. Seizures should be controlled with appropriate medications as we have done for our child. However, there have been advances in management options which include cosmetic camouflage, psoralen ultraviolet A therapy, suction blister grafting, melanocyte-keratinocyte transfer,, and excimer laser.
The association of extra-cutaneous manifestations with SND has been highlighted in only two case series until date., This highlights the rarity of association and the need for screening for these problems when we diagnose a child with SND.
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Conflicts of Interest
There are no conflicts of interest.
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