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Learning by Images • Einstein (São Paulo) 14 (03) • Jul-Sep 2016 • https://doi.org/10.1590/S1679-45082016AI3655   copy

Vesicular lesions in a neonate: what's your diagnosis?

Authorship SCIMAGO INSTITUTIONS RANKINGS

Incontinentia pigmenti (IP) is a rare genodermatosis transmitted as an X-linked dominant trait, occurring in 1:50,000 newborns.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) It is frequently lethal in males.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) In this disease, basal cells in the epidermis lose melanin that is collected in the dermis.(22. Shah L, Balakumar G. Visual diagnosis: a persistent newborn rash. Pediatr Rev. 2007;28(11):429-32.,33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) Typically, skin manifestations progress through four stages: vesicular (evident at birth or within the first few postnatal weeks); verrucous; hyperpigmented, and hypopigmented.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) Extracutaneous involvement occurs in 80% of patients.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.) A skin biopsy and/or genetic testing for mutations in NEMO/IKK-gamma confirm the disease.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–44. Scheuerle AE, Ursini MV. Incontinentia Pigmenti. 1999 Jun 8 [updated 2015 Feb 12]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1472/
http://www.ncbi.nlm.nih.gov/books/NBK147... )

A female full-term newborn presented with multiple vesicular lesions in the first 12 hours of life. Given the suspicion of neonatal herpes, she was initiated on acyclovir. Detection of herpes simplex virus by culture and polymerase chain reaction were negative (blood and skin lesions). Within 36 hours, vesicular and hyperpigmented linear skin lesions were apparent, distributed along Blaschko lines, evoking IP. At this time, the mother revealed that she and her older daughter also had some kind of “water bubbles” at birth, information that supported the diagnosis.

Figure 1
Hyperpigmented linear skin lesions following Blaschko lines
Figure 2
Hyperpigmented linear skin lesions on the leg

In IP, a high level of suspicion is necessary. Differential diagnosis of IP varies according to the stage of the disease.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–55. Vashi N, Kundu R. Approach to the patient with hyperpigmentation disorders [Internet]. Uptodate; 2016 [cited 2016 Jul 1]. Available from: http://www.uptodate.com
http://www.uptodate.com... ) In the first stage, it can be confused with herpes simplex, epidermolysis bullosa, or bullous pemphigoid.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.,55. Vashi N, Kundu R. Approach to the patient with hyperpigmentation disorders [Internet]. Uptodate; 2016 [cited 2016 Jul 1]. Available from: http://www.uptodate.com
http://www.uptodate.com... ) Since neonatal herpes and IP can coexist, early treatment with acyclovir should be started until definitive diagnosis is made.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.,33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) The differential diagnosis of verrucous stage is limited and includes linear epidermal nevus.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.) The hyperpigmented stage is IP's hallmark, but may be mistaken for linear and whorled nevoid hypomelanosis.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.,55. Vashi N, Kundu R. Approach to the patient with hyperpigmentation disorders [Internet]. Uptodate; 2016 [cited 2016 Jul 1]. Available from: http://www.uptodate.com
http://www.uptodate.com... ) The hypopigmented stage can be misdiagnosed as hypomelanosis of Ito or vitiligo.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.,55. Vashi N, Kundu R. Approach to the patient with hyperpigmentation disorders [Internet]. Uptodate; 2016 [cited 2016 Jul 1]. Available from: http://www.uptodate.com
http://www.uptodate.com... )

The prognosis of IP is generally good, but a periodic assessment by a multidisciplinary team should be made to rule out visual, motor, or intellectual impairment.(11. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.–33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.) Genetic counseling is of the utmost importance.(22. Shah L, Balakumar G. Visual diagnosis: a persistent newborn rash. Pediatr Rev. 2007;28(11):429-32.,33. Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.)

ACKNOWLEDGMENT

José Carlos Cardoso, Dermatology Department of Centro Hospitalar e Universitário de Coimbra (Portugal).

REFERENCES

  • 1
    Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79(5): 355-62. Review.
  • 2
    Shah L, Balakumar G. Visual diagnosis: a persistent newborn rash. Pediatr Rev. 2007;28(11):429-32.
  • 3
    Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011. pii: bcr0120113708.
  • 4
    Scheuerle AE, Ursini MV. Incontinentia Pigmenti. 1999 Jun 8 [updated 2015 Feb 12]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1472/
    » http://www.ncbi.nlm.nih.gov/books/NBK1472/
  • 5
    Vashi N, Kundu R. Approach to the patient with hyperpigmentation disorders [Internet]. Uptodate; 2016 [cited 2016 Jul 1]. Available from: http://www.uptodate.com
    » http://www.uptodate.com

Publication Dates

  • Publication in this collection
    Jul-Sep 2016

History

  • Received
    18 Feb 2016
  • Accepted
    04 July 2016
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