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Year : 2015  |  Volume : 16  |  Issue : 4  |  Page : 217-220

Incontinentia pigmenti in a male neonate

1 Department of Dermatology and STD, UCMS and GTB Hospital, Dilshad Garden, Delhi, India
2 Department of Pathology, UCMS and GTB Hospital, Dilshad Garden, Delhi, India

Date of Web Publication24-Sep-2015

Correspondence Address:
Amit Kumar Dhawan
House No. 436, 2nd Floor Indra Vihar, New Delhi - 110 009
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.165617

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We report a case of incontinentia pigmenti in a 3-day-old male neonate presenting with multiple vesicular and hyperkeratotic papular crusted lesions over the right leg and trunk in a blaschkoid pattern since birth, with characteristic histopathological findings. A good clinical acumen is required for diagnosing a rare disorder in the absence of genetic analysis and karyotyping.

Keywords: Incontinentia pigmenti, genodermatoses, male neonate, X-linked dominant

How to cite this article:
Gandhi V, Dhawan AK, Bisherwal K, Arora V K. Incontinentia pigmenti in a male neonate. Indian J Paediatr Dermatol 2015;16:217-20

How to cite this URL:
Gandhi V, Dhawan AK, Bisherwal K, Arora V K. Incontinentia pigmenti in a male neonate. Indian J Paediatr Dermatol [serial online] 2015 [cited 2019 Oct 17];16:217-20. Available from: http://www.ijpd.in/text.asp?2015/16/4/217/165617

  Introduction Top

Incontinentia pigmenti (IP) is a rare genetic disorder with X-linked dominant inheritance affecting multiple systems, classically considered as lethal in males. However, few cases of male patients surviving with IP have been recently reported, as described below.

  Case report Top

A 3-day-old male neonate was brought to our dermatology outpatient department with complaints of skin lesions since birth. He was a 1 st order child, born as a product of full term normal vaginal delivery, after a nonconsanguineous marriage. There was no history of any similar lesions in any other family members. On examination, he had multiple vesicular and hyperkeratotic papular crusted lesions present over right leg and trunk in a blaschkoid pattern [Figure 1] and [Figure 2]. Rest of his cutaneous and systemic examination did not yield any abnormality. Patient was subjected to Tzanck smear and Gram stain examination from vesicular lesion. Giemsa stain revealed few eosinophils only. Gram stain failed to demonstrate any organisms. Histopathology examination from vesicular lesion showed hyperkeratosis, dyskeratosis, subepidermal blister with few acantholytic cells, and few eosinophils in blister and dermis also [Figure 3]. Based upon these findings a diagnosis of IP in a male child was considered, however, due to lack of facilities and financial constraints genetic analysis could not be performed to detect the NEMO mutation and karyotyping. Subsequently, the parents were counseled for further investigations to rule out any associated abnormality, however he was lost to follow-up.
Figure 1: Clinical photograph showing multiple vesicular and hyperkeratotic papular crusted lesions present over right leg in a blaschkoid pattern

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Figure 2: Clinical photograph showing multiple vesicular and hyperkeratotic papular crusted lesions present over trunk in a blaschkoid pattern

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Figure 3: Histopathology examination from vesicular lesion showing hyperkeratosis, dyskeratosis, subepidermal blister with few acantholytic cells, and few eosinophils in blister and dermis (×100)

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  Discussion Top

Incontinentia pigmenti is a rare genetic disorder with X-linked dominant inheritance affecting multiple systems. The genetic basis underlying this disorder includes various genetic mechanisms affecting NEMO protein (IKK-gamma) which plays a crucial role in inflammatory, immune, and apoptotic pathways. [1],[2] The most common mechanism is mutations affecting NEMO gene (80%), besides that deletions of exons 4-10 of NEMO gene, missense mutations, and directional change in 2-10 exonal regions are also reported. As a result of this, there is defective functioning of NF-kappa-b factor in these cells resulting in altered cytokine milieu. [1]

The IP has a100% inheritance with variable penetrance. [1] There is selective elimination of cells containing mutated X chromosome demonstrating skewed X chromosome inactivation. In males it is classically considered as lethal, however few cases of male patients surviving with IP have been reported. [3] The plausible mechanisms proposed being 47, XXY karyotype (Klinefelter syndrome), mosaicism causing skewed inactivation of mutated X chromosome, protecting male child from deleterious effects of this mutation. [4] There are only 10 genetically proven cases of IP in males as reported in a recent review. However, there are only two cases of IP in male children reported from India by Gupta et al. in a case series. [5]

Clinical Manifestations

Incontinentia pigmenti is a rare neurocutaneous syndrome affecting structures originating from ectodermal and neuroectodemal tissues. It causes a wide range of abnormalities affecting the skin, central nervous system, dentition, and ocular structures. [1],[2]

Cutaneous changes occur in various stages are: [1],[2]

  • Stage 1: Vesiculo-pustular lesions following blaschkoid lines. This is the first stage and affects >90% of patients. It usually develops within 2 weeks of birth but sometimes lesions can occur in utero. It is characterized by the development of vesicopustular lesions over erythematous base affecting extremities and trunk in the blaschkoid pattern. This stage usually resolves within 4 months
  • Stage 2: Linear verrucous plaques. This stage follows the vesicopustular phase and is clinically characterized by hyperkeratotic papular lesions along the blaschkoid lines. It is reported to occur in 70% of cases. This phase appears within 2 to 6 weeks and usually resolves by 6 months
  • Stage 3: Hyperpigmented stage. In this stage, there is presence of linear or whorled hyperpigmented atrophic lesions usually present over trunk and extremities, however sometimes lesions can be present in skin folds. These lesions do not always occur at the site of preceding stages. The lesions in this stage appear during 1 st month of life and disappear slowly during adolescence
  • Stage 4: This phase has hypopigmented atrophic lesions along the lines of blaschko occurring mostly on legs. Lesions develop during adolescence and persist during adulthood and sometimes remain permanently.
Incontinentia pigmenti is also reported to have nail involvement in approximately 40% of cases. The fingernails are more commonly affected than toenails. The various reported changes include koilonychia, yellow discoloration, brittle nails, onycholysis, periungual, and subungual tumors.

Ocular involvement [6] is seen in 35-77% of studied population. Unilateral ocular involvement is more common and in case of bilateral involvement, one eye is more severely involved than another. Ocular involvement is associated with neurological involvement. The most common ocular involvement is retinal involvement (retinal detachment, retinal hemorrhage, retrolental fibroplasias), ptosis, microopthalmia, conjuctival pigmentation, iris hypoplasia, uveitis, strabismus, nystagmus, globe atrophy.

Neurological involvement [6] includes pseudo encephalitis, ischemic cerebrovascular accidents, cerebellar abnormalities, and cortical malformations. The common neurological symptoms are seizures, mental retardation, motor deficit, and microcephaly.

Skeletal abnormalities [6] associated with IP includes dwarfism, syndactyly, bone cyst, supernumerary ribs, hemiatrophy of legs.

Incontinentia pigmenti is also associated with immunological abnormalities in the form of neutrophil chemotaxis and lymphocytes function. [2] IP is thought to be associated with increased risk of hematological malignancies, wilms tumor, and retinoblastoma. [2]

The criterion for diagnosis of IP was proposed by Landy and Donnai (1993), which includes history of similar rash in family members and clinical findings of cutaneous rash, hair dental, nail, and retinal abnormalities. [7] Recently Gregersen et al. [8] proposed algorithm to establish diagnosis of IP in male patient. This include histopathological examination, demonstration of NEMO gene mutation in tissue, and blood sample along with karyotyping using fluorescence in situ hybridization to rule out Klinefelter syndrome. The ability to detect mutations in tissue is high, if sample is taken early in disease before cells with mutation are selectively eliminated from body. Histopathological examination findings vary depending upon the clinical stage. Early vesicular lesion will show eosinophilic spongiosis along with neutophilis and variable dyskeratosis. Verrucous lesions demonstrate hyperkeratosis, acanthosis, and papillomatosis with variable eosinophilia. Third hyperpigmented reveal pigment incontinence and linear atrophic hypopigmented phase reveal absence of pigment and eccrine glands. [9]


Incontinentia pigmenti is a genodermatosis with multisystem involvement. Thus, a multidisciplinary approach with detailed clinical examination and investigations to detect CNS, dental, ocular, immunological, cardiac and other abnormalities should be taken. [10] In additional these patients have speech, learning, hearing impairment as well. These patients should be followed up to detect development of malignancy. At the same time, parental counseling and maternal screening should be done to avoid adverse fetal outcome. [9],[11]

Thus, through this case, we want to highlight the fact that in developing countries like India, where there are financial constraints for genetic analysis and karyotyping, a good clinical acumen supported by histopathological examination is needed to clinch the diagnosis of a rare disease presenting in a different clinical setting, so that further steps can be taken to minimize associated complications and morbidities. Our patient was a male neonate who had multiple vesicular and hyperkeratotic papular crusted lesions in a blaschkoid pattern. He was diagnosed and was subsequently planned for further systemic investigations. However, he lost to follow-up.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

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. 1
Marques GF, Tonello CS, Sousa JM. Incontinentia pigmenti or Bloch-Sulzberger syndrome: A rare X-linked genodermatosis. An Bras Dermatol 2014;89:486-9.  Back to cited text no. 2
Mullan E, Barbarian M, Trakadis Y, Moroz B. Incontinentia pigmenti in an XY boy: Case report and review of the literature. J Cutan Med Surg 2014;18:119-22.  Back to cited text no. 3
Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001;69:1210-7.  Back to cited text no. 4
Gupta KD, Padhiar BB, Karia UK, Shah BJ. Case reports of incontinentia pigmenti in males. Indian J Dermatol 2013;58:328.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
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. 6
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9.  Back to cited text no. 7
Gregersen PA, Sommerlund M, Ramsing M, Gjørup H, Rasmussen AA, Aggerholm A. Diagnostic and molecular genetic challenges in male incontinentia pigmenti: A case report. Acta Derm Venereol 2013;93:741-2.  Back to cited text no. 8
Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2014;85:536-42.  Back to cited text no. 9
Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, et al. Incontinentia pigmenti: Learning disabilities are a fundamental hallmark of the disease. PLoS One 2014;9:e87771.  Back to cited text no. 10
Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): A systemic disorder. Cutis 2007;79:355-62.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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