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Year : 2017  |  Volume : 18  |  Issue : 3  |  Page : 245-247

Sporadic case of incontinentia pigmenti in identical twins

1 Department of Dermatology, Command Hospital, Kolkata, West Bengal, India
2 Department of Pediatrics, Command Hospital, Kolkata, West Bengal, India

Date of Web Publication7-Jun-2017

Correspondence Address:
Shekhar Neema
Department of Dermatology, Command Hospital, Alipore Road, Kolkata - 700 027, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.193030

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Incontinentia pigmenti (IP) is a rare genodermatoses with multisystem involvement. Monochorionic diamniotic twins are presented with characteristic skin manifestation and ocular and neurological involvement. Identification of characteristic cutaneous manifestation can lead to rapid diagnosis of IP even in the absence of family history, resulting in prompt management of systemic manifestations.

Keywords: Incontinentia pigmenti, sporadic, twins

How to cite this article:
Neema S, Shaw SC, Mukherjee S. Sporadic case of incontinentia pigmenti in identical twins. Indian J Paediatr Dermatol 2017;18:245-7

How to cite this URL:
Neema S, Shaw SC, Mukherjee S. Sporadic case of incontinentia pigmenti in identical twins. Indian J Paediatr Dermatol [serial online] 2017 [cited 2021 Jan 16];18:245-7. Available from: https://www.ijpd.in/text.asp?2017/18/3/245/193030

  Introduction Top

Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder, primarily affecting females. The disease tends to be lethal in males though survivors have been reported.[1] This is a disease involving the skin, central nervous system, teeth, and eyes. The characteristic skin lesion appears in the neonatal period and has four stages – vesicular, verrucous, hyperpigmentation, and atrophic stage.[2] Vesicular lesions appear early in the neonatal period, generally within the 1st week of life and recur during the first few months of life, especially during febrile illness. Verrucous stage appears after the first stage or may be present at birth. Wart-like lesions are present and may last up to 1 year. Hyperpigmented lesions follow verrucous stage. Atrophic stage develops during adolescence and appears as hairless patches or streaks. The disease is named so, because of the melanin leak by the melanocytes in the basal epidermal layer and its presence in the superficial layers of the dermis in the late stages of the disease.

IP is a single gene disorder caused by the NEMO gene located at chromosome Xq28. Approximately 60% of cases are sporadic.[3] We report a rare sporadic case of IP in monochorionic diamniotic female twins, with characteristic cutaneous, neurological, and ocular features.

  Case Report Top

Two female neonates, monochorionic diamniotic twins, were transferred to our hospital at day 12 of life, from a peripheral hospital with a history of pustular lesions over the lower limbs and trunk, noticed since birth. The twins were born at 35 weeks period of gestation by lower segment cesarean section, to a mother with gestational diabetes, with a birth weight of 1. 935 and 1.888 kg, respectively. There was no resuscitation required at birth and they were initiated on breast feeds since day 1 of life. Head to toe examination revealed vesicular lesions over the lower limbs and trunk on both the neonates. They were initiated on intravenous vancomycin (15 mg/kg/day) with suspicion of pyoderma and transferred at day 12 of life after the lesions did not resolve and fresh crops were seen.

On arrival at our hospital, the twins were active and fed well. Examination revealed multiple vesicular lesions distributed linearly over the lower limbs and axilla in both the twins [Figure 1]. These lesions were distributed along the lines of Blaschko [Figure 2]. In view of the characteristic dermatological lesions, twins were evaluated for associated abnormalities. Evaluation revealed eosinophilia in both twins (Twin 1 – 16%, Twin 2 – 22%). Ophthalmological evaluation showed retinal abnormalities in Twin 1 – a pale and ischemic retina with multiple hemorrhages and branch retinal vein obstruction. Magnetic resonance imaging of the brain was normal. In the 3rd week of life, the twins had multiple subtle seizures in the form of lip smacking, tonic movements of limbs, and a fixed gaze. The metabolic parameters were all normal, but the cerebrospinal fluid was not performed due to the presence of overlying skin lesions. They were started on syrup phenobarbitone for seizure control. The electroencephalogram of the twins revealed multifocal epileptogenic focus in Twin 1 and right hemispherical epileptogenic focus in Twin 2.
Figure 1: Characteristic cutaneous lesions seen in twins – Vesicles distributed along Blaschko's line (Stage 1)

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Figure 2: Vesicles along Blaschko's lines seen in the bilateral lower limbs and axilla in Twin 1

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They were discharged on day 28 of life on breast feeds with good seizure control and weight gain. The parents were counseled about the nature of disease.

  Discussion Top

IP is diagnosed by Landy and Donnai diagnostic criteria which were proposed in 1993[4] [Table 1]. With the availability of recent data and genetic studies, an update of this criteria has been proposed, which consider typical skin lesions as major criteria and rest other features as minor criteria.[5] Cutaneous manifestation of IP consists of typical skin lesions consisting of four stages (vesicular, verrucous, hyperpigmented, and atrophic). Other cutaneous manifestations which can be seen are scarring alopecia,[5] nail anomalies such as ridging, onychodystrophy or onychogryphosis, and subungual tumors.[6] Nail changes are generally seen in older patients. Dental anomalies are present in majority of patients older than 1 year of age. Conical teeth and hypodontia are most common dental anomalies.[5] Neurologic abnormalities are seen in 13–35% patients, and seizures are most common manifestation, followed by motor impairment and cognitive deficits.[5],[7] Both of our patients had seizures. Ocular manifestations are seen in approximately 35% of patients and consist of retinal vascular anomalies which are most common and were also seen in one of our patients. Other ocular manifestations being foveal hypoplasia, retinal detachment, vitreous hemorrhage, optic nerve atrophy, strabismus, and congenital cataract. Other manifestations which can be seen are breast anomalies such as supernumerary nipples and breast hypoplasia. Eosinophilia in peripheral blood smear is seen in almost 80% of patient and was also seen in both of our patients.[7]
Table 1: Landy and Donnai criteria for diagnosis of incontinentia pigmenti

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IP is caused by a mutation in the IKBKG gene resulting in loss of function of NF-κß, leaving cells susceptible to apoptosis from intrinsic factors.[8] IKBKG gene deletion can be detected for confirmation of diagnosis. Genetic counseling has a very important role to play in cases of IP to prevent birth of affected children. Molecular genetic testing in proband, parents, and affected relatives should be done. In case of unaffected parents, mother should still undergo genetic testing because of variable expressivity of phenotype. Risk of IP in sibling depends on genetic status of parents. If none of the parent is affected, the risk of development of IP in sibling is <1%. If mother of affected female is also affected, risk of sibling inheriting the mutant gene is 50%. Since males with homozygous deletion gets aborted, expected ratio of delivery of siblings are 33% affected females, 33% unaffected females, and 33% unaffected males. If mother is unaffected but carries genetic mutation, male may survive and manifest ectodermal dysplasia.[9]

IP in twin females is extremely rare, and extensive literature search revealed three reported cases so far.[10] Our case is unique as it shows characteristic cutaneous manifestations along with neurological, hematological, and ocular abnormalities in female monochorionic diamniotic twins with sporadic occurrence.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169-87.  Back to cited text no. 1
Niccoli-Filho WD, da Rocha JC, Di Nicoló R, Seraidarian PI. Incontinentia pigmenti (Bloch-Sulzberger syndrome): A case report. J Clin Pediatr Dent 1993;17:251-3.  Back to cited text no. 2
Smahi A, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud MC, et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet 1994;3:273-8.  Back to cited text no. 3
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9.  Back to cited text no. 4
Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2014;85:536-42.  Back to cited text no. 5
Nicolaou N, Graham-Brown RA. Nail dystrophy, an unusual presentation of incontinentia pigmenti. Br J Dermatol 2003;149:1286-8.  Back to cited text no. 6
Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003;139:1163-70.  Back to cited text no. 7
Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: A comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina 2015;46:650-7.  Back to cited text no. 8
Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001;10:2171-9.  Back to cited text no. 9
Percival T, Smith K. Incontinentia pigmenti in 22-month old afro-caribbean fraternal twin girls. A case report. West Indian Med J 2013;62:852-5.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]


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