The Indian Journal of Pediatrics

, Volume 80, Issue 11, pp 968–971

Incontinentia Pigmenti Presenting as Encephalopathy


    • Indira Gandhi Institute of Child Health
  • Chandra Mouly
    • Indira Gandhi Institute of Child Health
  • Asthik Biswas
    • Indira Gandhi Institute of Child Health
  • Shivananda Shivananda
    • Indira Gandhi Institute of Child Health
Clinical Brief

DOI: 10.1007/s12098-012-0916-4

Cite this article as:
K. N. Gowda, V., Mouly, C., Biswas, A. et al. Indian J Pediatr (2013) 80: 968. doi:10.1007/s12098-012-0916-4


Incontinentia Pigmenti is a rare neurocutaneous disorder that may present with neurological symptoms in early infancy in addition to characteristic skin rashes. We report a two-mo-old girl presenting with a rash and encephalopathy. Magnetic resonance imaging of brain showed hemorrhagic infarcts. First we thought baby was suffering from a skin infection with meningo-encephalitis and later with development of characteristic skin lesions, neuroimaging and skin biopsy changes we reconsidered our diagnosis as Incontinentia pigmenti.


Incontinentia pigmentiEncephalopathySkin rashesSeizures


Incontinentia Pigmenti (IP) is a rare X-linked dominant geno-dermatosis which mainly affects females. The disease is multi-systemic and involves tissues of ectodermal and mesodermal in origin [1]. The name IP is related to the histological characteristics of the disease, that is, melanin incontinence by melanocytes in the basal epidermal layer and its presence in the superficial dermis in the final stage of the disease [2]. Neurological features occur in 30 % of cases [3]. The authors are reporting the clinical and imaging findings of two-mo-old girl with extensive hemorrhagic infarcts.

Case Report

An apparently healthy 46 d-old girl baby, only child of second degree consanguineously married couple born after uneventful antenatal and birth history. She presented with refusal of feeds of 5 d, drowsiness and convulsions of 3 d duration. There was no history of fever. There was history of fluid filled skin lesions over trunk, upper and lower limbs since day two of life. There was history of similar skin lesions in the mother and maternal grandmother during infancy, which resolved later.

On examination, weight, length, and head circumference were normal. Vitals were stable. Vesicles, verrucous plaque lesions in a linear fashion over upper and lower limbs were present (Fig.1). Child was lethargic, with increased tone in both upper and lower limbs and brisk deep tendon reflexes. Fundus examination was normal. Investigations showed eosinophilia, normal serum electrolytes, calcium, and arterial blood gas. Blood culture was sterile. Cerebrospinal fluid examination was normal and Polymerase chain reaction (PCR) negative for Herpes simplex virus. Magnetic resonance imaging (MRI) showed signal changes in corpus callosum, thalami, and bilateral para-ventricular white matter fronto-temporo-parietal lobes suggestive of acute and sub-acute infarcts (Figs. 2, 3, and 4). EEG showed multifocal epileptiform discharges. Skin biopsy was done and it showed vacuolar degeneration of the epidermal basal cells and melanin in phagocytes of upper dermis. These features were consistent with Incontinentia Pigmenti
Fig. 1

Shows verrucous plaque lesions in a linear fashion over bilateral upper and lower limbs
Fig. 2

MRI-DWI shows restriction involving corpus callosum, thalami
Fig. 3

MRI-DWI shows para-ventricular white matter which appear dark in ADC images suggestive of acute infarcts
Fig. 4

T2W FLAIR- Images shows hyperintense signals involving para-ventricular white matter of bilateral fronto-temporo-parietal lobes suggestive of subacute infarcts

Initially the authors thought possibility of neuroinfection. Investigations did not show any evidence of infection. With characteristic family history of skin lesions in the mother and maternal grandmother, MRI and skin biopsy findings the diagnosis as Incontinentia Pigmenti was reconsidered.

Child was initially treated with antibiotics and phenobarbitone. Child’s sensorium improved over a period of 2 wk, however, spasticity was persisting. During follow-up at 5 mo showed recurrence of seizures, developmental delay and spastic quadriparesis. Skin lesions became hyper pigmented on the trunk and limbs, distributed in the macular whorls.


The neurological manifestations in IP occur in one third of cases, predominantly manifest as seizures (13 %), mental retardation (8 %), and spastic paralysis (11 %) [4]. Other neurological features that may be seen are microcephaly, ataxia, hyperactivity, and strokes. Encephalitis or destructive encephalopathy have been rarely reported [5, 6],. A series aiming to describe the clinical, neuroimaging findings with MRI in 12 patients with IP showed brain abnormalities in five girls who had neurologic signs associated with the cutaneous lesions of IP [7]. Lesions involved cortex, subcortical and deep white matter, and ependymal and subependymal zones of one or both cerebral hemispheres [7].

This child presented with acute encephalopathy with skin lesion with residual deficits of spastic quadriparesis. The authors initially suspected skin infection with sepsis with meningo-encephalitis. Investigations were not suggestive of any infection. The MRI supports clinical diagnosis and explains features of encephalopathy and seizures. Girl child with classical rashes with family history of similar rashes, eosinophilia, skin biopsy and MRI findings supports diagnosis of IP.

Diagnosis of IP is made on clinical grounds and with major criteria of classical skin lesions [8]. and skin biopsy consistent with IP. IKBKG is the only gene known to be associated with IP. Due to lack of availability of genetic studies in our country and positivity rate of 65 % for genetic studies in IKBKG, [8] mutational studies were not done. There is no specific treatment. Symptomatic and supportive care is advised depending on the system involved.

Parenchymal abnormalities were most severe in patients with neonatal severe cutaneous lesions, especially if these were located in the scalp. Cerebral lesions were present from birth or the first months of life and changed little thereafter [7]. So far MRI features described in neonates with IP resemble this child [5].


One should think possibility of incontinentia pigmenti when a child presents with encephalopathy with skin lesions after exclusion of other causes like sepsis with neuro infections and herpes simplex encephalitis.

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© Dr. K C Chaudhuri Foundation 2012