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Year : 2016  |  Volume : 17  |  Issue : 1  |  Page : 24-26

Incontinentia pigmenti with neurologic and oculodental disorders

1 Department of Pediatric Dysmorphology, IMSS Medical Center, Guadalajara, Mexico, USA
2 Department of Emergency, IMSS General Hospital, No. 2, Aguascalientes, Mexico, USA

Date of Web Publication4-Jan-2016

Correspondence Address:
Jorge Arturo Avina Fierro
Alberto Cossio 1432, Huentitan El Alto, Guadalajara 44390, Mexico
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.173154

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Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism. We describe a 21-month-old girl showing characteristic cutaneous findings of incontinentia pigmenti in chronic evolution of hyperpigmented, hypopigmented, and atrophic stages, linear and whorled pattern involving the Blaschko's lines. The patient has history of seizures, and electroencephalography showed epileptiform discharges at temporal lobule, cranial magnetic resonance imaging revealed cerebral dysgenesis, neuronal migration disorder, and hypoplasia of the corpus callosum. She has motor and mental delay with spastic quadriplegia, and ophthalmologic loss of central vision by ischemic optic neuropathy with decreased blood flow to eye's optic nerve. The dermatologic features were confirmed by skin biopsy that showed slight atrophy and some scattered apoptotic cells in the epidermis, epidermal hypopigmentation, and reduced melanocyte number, these histological features confirmed the genodermatosis diagnosis: Bloch-Sulzberger syndrome.

Keywords: Bloch-Sulzberger syndrome, genodermatosis, incontinentia pigmenti

How to cite this article:
Fierro JA, Hernandez Avina DA. Incontinentia pigmenti with neurologic and oculodental disorders. Indian J Paediatr Dermatol 2016;17:24-6

How to cite this URL:
Fierro JA, Hernandez Avina DA. Incontinentia pigmenti with neurologic and oculodental disorders. Indian J Paediatr Dermatol [serial online] 2016 [cited 2021 Jun 23];17:24-6. Available from: https://www.ijpd.in/text.asp?2016/17/1/24/173154

  Introduction Top

Incontinentia pigmenti is an X-linked dominant disorder, a rare multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. Cutaneous manifestations have four dermatologic stages: Vesicular, verrucous, hyperpigmented, and atrophic.[1] The frequency is one case per 50,000 births; there are over 700 cases reported with normal life span in females and almost lethal in males. About 75% of the cases are sporadic by a new genetic mutation de novo, the deletion produces loss of the IKBKG exon, causing an alteration in the nuclear factor kappa-light (NF-κB) essential modulator gene located in as Xq28 that regulates the cellular mechanisms of inflammation and apoptosis in the process NF-κB.[2]

  Case Report Top

We report a 21-month-old female child, the family history was unremarkable, the marriage was nonconsanguineous¸ the paternal age was 45 years old, the maternal age was 36 years old, and elder brother was 5 years old; all the family members were apparently healthy without chronic diseases. Normal pregnancy, birth at 40 weeks with normal appearance of the newborn, birth weight was 3200 g and height 50 cm. In the 1st week of life,appeared a mysterious erythematous rash and skin eruptions of vesicles that finished in naked lesions detected in emergency department; a month, these injuries persisted in dark macules; at age of eight months, it returned the dermatosis. In the 1st year of the infant, the parents noticed that the infant showed growth and development retardation without hold her head and sit by itself and then she started with generalized seizures, electroencephalography revealed temporal lobe epilepsy; a magnetic resonance imaging showed cerebral dysgenesis of predominance front, problems of neuronal migration, and hypoplastic corpus callosum; the patient needed treatment with valproate and levetiracetam. The ophthalmologic evaluation revealed bilateral myopia and divergent strabismus of the right eye; the examination of fundus oculi found retina with mottled, diffuse hypopigmentation; diminished central vision in both eyes with ischemic optic atrophy by decreased blood flow to the optic nerve and areas of nonperfusion; it was needed the prescription of corrective lenses to improve vision. The patient has delayed eruption of teeth, and it is not possible to demonstrate deformations in dental pieces. The current evaluation of the dermatosis shows phase III of the disease with linear arrangement of macules in different areas of the skin [Figure 1], affecting trunk and extremities, originated by dermal deposit of melanin in confluent macules in swirling patterns that respected skin of the surrounding areas [Figure 2]; the histologic appearance shows the presence of loose pigment in the basal layer of the epidermis with evidence of pigment leakage; and there are lesions of stage IV of hypochromic bands scattered with central parts of atrophic aspect very pale, in Blaschko's lines, in left forearm and right thigh [Figure 3].
Figure 1: Patient with incontinentia pigmenti, motor delayed, spastic quadriplegia, and visual abnormality

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Figure 2: Hypercromic macules distributed in lines and swirling patterns in abdomen and left knee

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Figure 3: Hypochromic and atrophic lesions in Blaschko's lines, lesions in left forearm and right thigh

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  Discussion Top

Bloch-Sulzberger syndrome is produced by the alteration of cell migration of primary elements located in the ectodermic embryonic layer, producing genetic mosaicism with two different cell lines coming from one zygote. The disorder is inherited in X-linked dominant pattern, affected mainly dermal and neurological level, but there are also ocular and dental anomalies; the syndrome is considered as a disease that affects skin, nervous system, eye, and teeth.[3] The clinical evolution of the disease had four different stages: The first in the neonatal period with vesiculobullous lesions in a linear pattern on erythematous area distributed in Blaschko's lines, then a verrucous hyperkeratotic lesions stage that can extend approximately 4-week, then changes to hyperkertosical papules in plaques that disappear by themselves. The chronic phases have some months of duration and are: Hyperpigmentation of the skin with chromic spots and dark stains in distribution feature of strokes; produced by keratinocytes apoptotic that release melanosomes and stain the skin; finally, hypopigmentation and atrophy of the skin with lines of lesions of light-colored skin that evolve cutaneous atrophy associated.[4]

Dermatologic manifestations are among the most important signs of Bloch-Sulzberger syndrome; the clinical diagnosis is based on the dermatological findings and can be corroborated with histopathological analysis by biopsy from a lesion, during the verrucous phase shows spongiosis, eosinophilic infiltration, and phagocytes of melanin.[5] The diagnosis is achieved by one major criteria and two minor criteria. The major criteria are: Neonatal vesicular rash feature, typical lesions of hyperpigmentation with distribution along the  Lines of Blaschko More Details, and hypochromic and atrophic linear lesions in extremities.[6] The minor criteria include the different neurological, ophthalmic, and dental anomalies and can support the diagnosis. The patients require ophthalmological evolution to detect the retinal complications and avoid evolution toward optic atrophy and blindness.[7] The most frequent neurological abnormalities are seizures and motor impairments [8] with mental retardation and learning and language disabilities; it must need a brain imaging study to determine the neurological and brain injuries.[9] The dental abnormalities are hypodontia and partial anodontia, delayed eruption and the presence of dental teeth in peg's deformation or conical-shaped teeth.[10] There is no treatment for this generalized disorder, and the multisystem manifestations of the disease require that the management of the patient must be performed by a multidisciplinary medical team to improve the quality of life of the patient.

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.


The authors would like to thank the patient and her parents for allowing us to publish the clinical and paraclinical data from this case report; the consent for taking and publication of photographs are signed by the parents. Written informed consent was obtained from the patient's parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor of this Indian Journal of Pediatric Dermatologic.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Yang Y, Guo Y, Ping Y, Zhou XG, Li Y. Neonatal incontinentia pigmenti: Six cases and a literature review. Exp Ther Med 2014;8:1797-806.  Back to cited text no. 1
Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, et al. Insight into IKBKG/NEMO locus: Report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat 2014;35:165-77.  Back to cited text no. 2
Zafeiriou DI, Vargiami E, Hatzidimitriou V, Kyriazi M. Incontinentia pigmenti: A skin, brain, and eye matter. J Pediatr 2013;163:1520.  Back to cited text no. 3
Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, et al. Incontinentia pigmenti. An Bras Dermatol 2014;89:26-36.  Back to cited text no. 4
Fraitag S, Rimella A, de Prost Y, Brousse N, Hadj-Rabia S, Bodemer C. Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): A series of 26 cutaneous biopsies. J Cutan Pathol 2009;36:966-71.  Back to cited text no. 5
Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2014;85:536-42.  Back to cited text no. 6
Moreira Neto CA, Moreira AT, Moreira Jr CA. Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti. Arq Bras Oftalmol 2014;77:47-9.  Back to cited text no. 7
Aydin M, Hakan N, Demirel N, Deveci U, Zenciroglu A, Okumus N. Neurological involvement in incontinentia pigmenti. Eur J Pediatr 2014;173:547.  Back to cited text no. 8
Aoun A, Goizet C, Arveiler B, Sarrazin E, Derancourt C. Incontinentia pigmenti with subcortical band heterotopias. Arch Pediatr 2015;22:109-10.  Back to cited text no. 9
Minic S, Trpinac D, Gabriel H, Gencik M, Obradovic M. Dental and oral anomalies in incontinentia pigmenti: A systematic review. Clin Oral Investig 2013;17:1-8.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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