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Year : 2021  |  Volume : 22  |  Issue : 4  |  Page : 342-345

A rare association of incontinentia pigmenti with congenital heart disease in a newborn

Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Submission15-Mar-2019
Date of Decision28-Aug-2019
Date of Acceptance30-Mar-2021
Date of Web Publication01-Oct-2021

Correspondence Address:
Mounica Chimbili
Room No. 52, Department of Dermatology, B Block, Old OPD, Victoria Hospital, Bangalore Medical College and Research Institute, Bengaluru - 560 002, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_34_19

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Introduction: Incontinentia pigmenti (IP) is a rare genodermatosis. It classically has manifestations of linear vesicular lesions, evolving into verrucous lesions within few weeks, followed by a peculiar swirled pigmentation lasting for many years. In addition, IP can affect other ectodermal tissues such as the teeth, eyes, bones, and the central nervous system. Case report: We report a case of IP in a newborn female baby who presented to us with verrucous lesions at birth and on examination was found to have congenital heart disease (atrial septal defect, with pulmonary hypertension, tricuspid regurgitation, and predominant right to left shunt). Discussion: We wish to draw attention to the association of IP with congenital heart disease.

Keywords: Infant, NF-kappa B, incontinentia pigmenti, pulmonary arterial hypertension, heart defects congenital

How to cite this article:
Shanmukhappa AG, Chimbili M, Budamakuntla L, Kanathur S. A rare association of incontinentia pigmenti with congenital heart disease in a newborn. Indian J Paediatr Dermatol 2021;22:342-5

How to cite this URL:
Shanmukhappa AG, Chimbili M, Budamakuntla L, Kanathur S. A rare association of incontinentia pigmenti with congenital heart disease in a newborn. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Nov 28];22:342-5. Available from: https://www.ijpd.in/text.asp?2021/22/4/342/327450

  Introduction Top

Incontinentia Pigmenti (IP) (Bloch-Sulzberger syndrome) is a rare hereditary syndrome inherited by X-linked dominant pattern. It occurs in approximately 1:40,000 – 1:50,000 births.[1] It primarily affects female infants, and is lethal in males.[2]

The mutation of NF-kappa-B essential modulator, also known as IKK-γ/inhibitor of nuclear factor kappa-B kinase subunit gamma (IKBKG) gene which is located on chromosome Xq28, is believed to play a role in the pathogenesis of this disease. The IKBKG gene is involved in regulation of cell division and programmed cell death.[3] Approximately 60% of cases are found to be sporadic.[4]

Skin involvement occurs in all patients, manifesting as vesicular, verrucous, and peculiar swirled, pigmented cutaneous lesions sequentially.

In addition, other ectodermal tissues may also be affected, such as central nervous system (CNS), eyes, hair, nails, and teeth – presenting as developmental defects of eyes (cataract, optic atrophy, strabismus, and retrolental fibroplasia), teeth (delayed dentition, partial anodontia, cone- or peg-shaped teeth), skeletal system (skull and palatal defects) and CNS (epilepsy, microcephaly, mental retardation, and slow motor development),[3] and cardiac abnormalities (pulmonary arterial hypertension, atrial septal defect [ASD], tricuspid regurgitation [TR]).

  Case Report Top

A newborn child born of second-degree consanguineous marriage to an elderly mother with a full-term normal vaginal delivery with no prenatal and postnatal complications presented to us few hours after birth with generalized verrucous skin lesions distributed mainly over the trunk [Figure 1] and [Figure 2] and extremities [Figure 3] in a blaschkoid pattern. Lesions involved the scalp, sparing the face. The nails were found to be dystrophic [Figure 4].
Figure 1: Verrucous lesions along Blaschko lines over chest and abdomen

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Figure 2: Extensive verrucous lesions over the back

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Figure 3: Verrucous lesions along Blaschko lines over lower limbs

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Figure 4: Dystrophic toe nails in the baby

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No similar skin lesions were noted among the family members. There was no history of previous abortions in the mother.

Routine blood parameters were normal; no eosinophilia was noted in our case. Ophthalmological evaluation (fundoscopy) was normal at birth and at 1 year of age. Two-dimensional echo of the heart revealed congenital heart disease (ASD, secundum type – 3.95 mm) [Figure 5] with pulmonary hypertension and tricuspid regurgitation, with predominant to right-to-left shunt [Figure 6]. MRI of the brain was normal. No skeletal or dental abnormalities were noted in our case at one year follow-up. X-ray (whole body) was found to be normal, but the possibility of developing at a later age cannot be ruled out abnormalities.
Figure 5: Two dimensional-echo picture of the heart showing atrial septal defect (secundum type) in the newborn measuring 3.95 mm

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Figure 6: Doppler study of the heart showing predominant right to left shunting of blood due to tricuspid regurgitation with pulmonary arterial hypertension in the presence of atrial septal defect

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There were no cutaneous signs suggestive of congenital heart disease in the baby. The baby showed signs of respiratory distress like rapid and shallow breathing and respiratory rate of 68 breaths/min, heart rate of 180 beats/min. on examination by neonatologist loud second heart sound (S2) and mid diastolic murmur were also noted. She was managed in neonatal intensive care unit and discharged after two weeks once the respiratory distress subsided.

Histopathology of the skin lesions showed diffuse hyperkeratosis, papillomatosis, and acanthosis, consistent with verrucous stage of IP [Figure 7].
Figure 7: Histopathology of the skin biopsy done on day 3 of life (H and E, ×40) showing diffuse hyperkeratosis, acanthosis, papillomatosis consistent with verrucous stage of IP

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The lesions started to pigment and flatten in a span of a week, suggestive of evolution of the lesions to hyperpigmented stage of IP from verrucous stage [Figure 8].
Figure 8: Skin lesions over the chest and abdomen at week 1, lesions appear flattened and pigmented compared to the day 1

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After a year, the baby showed complete involution of verrucous lesions and progression to hyperpigmentary [Figure 9] and hypopigmentary stage [Figure 10].
Figure 9: Skin lesions over the chest and abdomen at 1 year of age showing swirls of hyperpigmentation along Blaschko lines

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Figure 10: Skin lesions over the lower limb at 1 year of age, there is complete resolution of verrucous lesions, and the lesions now appear hypopigmented and atrophic

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Genetic studies for establishing the confirmative diagnosis could not be done in our case due to nonavailability of the facilities.

  Discussion Top

Cutaneous findings are indicative of the disease and usually appear in chronological sequence, characterized by a progression through four distinct stages.

  • Stage 1 – Inflammatory or vesicular stage is characterized by the development of papules and vesicles on an erythematous base and distributed along the  Lines of Blaschko More Details.

In most patients (>90%), lesions are present at birth or develop during the first 2 weeks of life.

  • Stage 2 – Verrucous stage is characterized by plaques and warty papules linearly arranged over an erythematous base, also following the lines of Blaschko. It may rarely be present at birth as seen in our case; however, in 70%–80% of patients, it evolves after the first stage in few weeks
  • Stage 3 – Hyperpigmented stage is defined by the development of linear or whorled lesions, with a brownish pigmentation
  • Stage 4 – Atrophic or hypopigmented stage is characterized by areas of hypopigmentation, atrophy, and absence of hair, most frequently observed on the lower extremities. These lesions usually develop during adolescence, persist into adulthood, and may be permanent.[4]

Diagnostic criteria for incontinentia pigmenti in the absence of familial history (Landy and Donnai, 1993).[5]

Major criteria

  • Typical neonatal vesicular rash (erythema, vesicles, and eosinophilia)
  • Typical hyperpigmentation (especially on the trunk, following Blaschko lines, disappearing in adolescence)
  • Linear atrophic alopecic lesions.

Minor criteria

  • Dental abnormalities
  • Alopecia
  • Wooly hair, nail abnormalities
  • Retinal disorders.

The presence of at least one major criterion is required while the presence of minor criteria supports the diagnosis of IP.

IP is most commonly reported to have been associated with CNS, skeletal, and dental anomalies; however, there have been rare reports of it being associated with cardiac abnormalities. In a study by Urban et al., one child with IP had strabismus and an associated atrial septal defect.[6]

Godambe et al. reported an infant with IP presenting with pulmonary hypertension and marked tricuspid and pulmonary regurgitation and bidirectional atrial and ductal shunting with a small ASD.[7]

  Conclusion Top

In our case, according to the family history, there was no sign of X-linked dominant inheritance pattern; thus, possibility of sporadic mutation has to be considered. This baby presented to us with verrucous stage at birth with nail dystrophy and on investigation was found to have ASD. There are very few case reports of IP with congenital heart defects; we report this case in view of its rarity.

Declaration of consent

The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s) of the patient. In the form the parent(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Narayanan MJ, Rangasamy S, Narayanan V. Incontinentia pigmenti (Bloch-Sulzberger syndrome). Handb Clin Neurol 2015;132:271-80.  Back to cited text no. 1
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. 2
[PUBMED]  [Full text]  
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. 3
Cammarata-Scalisi F, Fusco F, Ursini MV. Incontinentia Pigmenti. Actas Dermosifiliogr (Engl Ed) English: Spanish; 2019;110:273-8.  Back to cited text no. 4
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9.  Back to cited text no. 5
Urban J, Toruniowa B, Janniger CK, Czelej D, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): Multisystem disease observed in two generations. Cutis 1996;58:329-36.  Back to cited text no. 6
Godambe S, McNamara P, Rajguru M, Hellmann J. Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: A case report. J Perinatol 2005;25:289-92.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]


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