Indian Journal of Paediatric Dermatology

: 2018  |  Volume : 19  |  Issue : 1  |  Page : 68--70

A rare case of neurocutaneous disorders of the newborn: Incontinentia pigmenti

Melek Aslan Kayiran1, Mehmet Salih Gürel2, Burçe Can Kuru2, Ilkin Zindancı2,  
1 Department of Dermatology, Ümraniye Training and Research Hospital, Saglik Bilimleri University, Istanbul, Turkey
2 Department of Dermatology, Goztepe Research and Training Hospital, Istanbul Medeniyet University, Istanbul, Turkey

Correspondence Address:
Melek Aslan Kayiran
Fahrettin Kerim Gökay Cad. Ulus Apt. No: 62, D6 34724 Kadiköy, Istanbul


Incontinentia Pigmenti (IP) is a rare X-linked dominant disorder which is mostly lethal for males. It effects hair, teeth, nails, eyes and central nervous system along with skin. A twelve day old female patient was referred to the dermatology departmant due to skin eruptions that began the day before. There was a widespread erythema and many papuls and vesicles were seen on the eryhematous skin in linear sequence. Spongiosis with eosinophilia and necrotic keratinocytes were seen on histopathologic examination. The patient was diagnosed with incontinentia pigmenti. Vesicles and bullous eruption are rarely seen in newborns. The physcians should not avoid histopathologic examination especially in females. Since incontinentia pigmenti is a rare but multisystemic disorder, early diagnosis is crucial.

How to cite this article:
Kayiran MA, Gürel MS, Kuru BC, Zindancı I. A rare case of neurocutaneous disorders of the newborn: Incontinentia pigmenti.Indian J Paediatr Dermatol 2018;19:68-70

How to cite this URL:
Kayiran MA, Gürel MS, Kuru BC, Zindancı I. A rare case of neurocutaneous disorders of the newborn: Incontinentia pigmenti. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Jan 25 ];19:68-70
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Full Text


Incontinentia pigmenti (IP), also known as Bloch–Sulzberger disease, is a rare X-linked dominant neurocutaneous disorder that is often lethal in male patients.[1] Hair, teeth, nail, eye, and central nervous system (CNS) disorders can be seen along with skin abnormalities.[2] Skin lesions have four stages. These are vesicobullous, verrucous, hyperpigmentation, and hypopigmentation [Table 1].{Table 1}

The skin lesions are the first clues leading to the diagnosis of this systemic disease despite lacking prognostic value.

 Case Report

A 12-day-old female baby admitted to the emergency service due to vesicular eruption that began 2 days ago. A full-term girl was born by cesarean section with a birth weight of 3390 g. Her parents were not related. Her 30-year-old mother (gravida 2, parity 1, abortus 0, d/c 1) had gestational diabetes which was controlled with dietary restrictions. The baby was internalized in intensive care and was referred to the Department of Dermatology. Her vital parameters were normal with no sign of fever. There were no abnormalities in her blood and urine samples except the eosinophilia in complete blood count. Erythema started at the 2nd day of life, but it was considered as normal by her primary care physician. She was taken to emergency department because of the vesicles that suddenly appeared in the back part of her legs on the 10th day of life. Dermatological examination revealed widespread urticarial erythema on her back, many papules and vesicles on the erythematous skin in a linear sequence on the back part of her extremities. There were also many pustules and erosions on her legs [Figure 1], [Figure 2], [Figure 3].{Figure 1}{Figure 2}{Figure 3}

IP, neonatal pemphigus, epidermolysis bullosa, and bullous congenital ichthyosiform erythroderma were considered in differential diagnosis. Histopathological and direct immunofluorescence examination (DIF) was done. Hyperkeratosis, spongiosis with eosinophilia, eosinophilic exocytosis in some parts, many necrotic keratinocytes and dense eosinophilic infiltrates, and rare lymphocytes were seen on histological examination of skin [Figure 4]. There was no deposition on DIF examination. The patient was diagnosed as IP with clinical and histological findings.{Figure 4}

The patient was consulted to neurology and ophthalmology for possible systemic involvement. Transfontanelle ultrasonography was found to be normal. There were no signs of involvement in neurological examination. Bilateral retinal vasculopathy was noted by the pediatric ophthalmologist.

The patient was given topical hydrocortisone acetate once a day and the ruptured vesicles got well with mild pigmentation after 10 days. There were no lesions on her face, mouth, chest, nails, and hair. Her relatives do not have this illness.


The incidence of IP is 0.0025%.[3] The effected males usually die in intrauterine period. Ninety-seven percent of patients are females; the effected males also have Klinefelter syndrome. There is a mutation on the IKBKG/NEMO gene on the long arm of X chromosome which is 65% de novo. The cases can be sporadic or familial. This mutation results in loss of function of NF-kB protein which has a role in cellular proliferation, apoptosis, and pro-inflammatory factor regulation.[4]

Minic et al. published updated diagnostic criteria for IP in 2014. Four stages of skin lesions were major criteria whereas dental and palate anomalies, ocular anomalies, breast and nipple anomalies, alopecia and abnormal hair, central nervous system anomalies, abnormal nails, multiple male miscarriages, and typical skin histological findings were minor criteria. Eosinophilia and chromosome analysis may also be considered.[5]

IP should be considered for the differential diagnosis of a newborn with vesiculobullous eruptions, particularly in females. It is hard to make clinical diagnosis with Stage 1 eruptions. Neonatal pemphigus, epidermolysis bullosa, bullous impetigo, herpes simplex, and neonatal varicella infection must be considered in differential diagnosis. Our patient had many papular, vesicular, and pustular lesions of Stage 1 on her extremities, particularly on her legs. In addition to these, typical histological findings of vesicular stage like spongiosis with many eosinophils and necrotic keratinocytes were found in our patient's specimens. Bacteriologic cultures of the skin were negative. The linear sequence of the lesions is an important clue for the physician to consider IP, as in our case.

Stage 2 can be confused with bullous congenital ichthyosiform erythroderma, linear epidermal nevi, and widespread wart infection because of the irregular, linear warty papules in one or more extremities. The third stage may be mistaken for X-linked chondrodysplasia punctata, nevoid hypermelanosis, and dermatopathia pigmentosa reticularis as the hyperpigmentation seen mostly. The fourth stage may be misdiagnosed with hypomelanosis of Ito, different types of ectodermal dysplasia, and vitiligo because of the atrophy and hypopigmentation seen in this phase. There is no rule that every stage will always be visible, and Stages 1 and 3 are more common.

Almost 90% of the patients with the diagnosis of IP have eosinophilia, with absolute eosinophil count (AEC) ranged between 55 and 15,400/ml.[6] In our patient, AEC was 2720/ml.

Thirty percent of patients have CNS involvement. Clinical symptoms are quite diverse, and these are usually seen in the neonatal period. Epileptic seizures, infantile encephalopathy, and ischemic stroke may occur.[7] Although the pathogenesis of CNS involvement is not known, small vessel occlusion and inflammation are blamed.[8] The most common disorder is seizures. Neurological involvement can be severe and cause death.[6] Our patient did not have any of these symptoms, and transfontanelle ultrasonography did not reveal any abnormality. The family did not consent to magnetic resonance imaging.

Approximately 40% of the patients have ophthalmological findings such as neovascularization, strabismus, microphthalmia, optic atrophy, cataract, and retrolenticular masses. Almost 60%–90% of these involved patients have retinal abnormalities along with optic atrophy. Peripheral avascularity and macular disease commonly occur.[9] Our patient had bilateral peripheral retinal avascularity.

Vesicobullous eruptions are rarely seen in newborns. The physicians should not avoid histopathologic examination, especially if the patient is a female. Although the stages of the skin lesions are major criteria of the disorder, the lesions usually heal spontaneously and are not important for prognosis. The skin lesions may lead to the diagnosis of IP which is a very rare but multisystem disorder; thus, early diagnosis is important for the patients.

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Conflicts of interest

There are no conflicts of interest.


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