DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20204552

Incontinentia pigmenti: a rare case of neurocutaneous disorder in the newborn

Himanshu S. Dave, Abhishek K. Berwal, Priya M. Patel, Tanushree Joshi

Abstract


Incontinentia pigmenti (IP) is a rare X linked dominant genetic multisystem neurocutaneous disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30%-40% of cases with seizures and mental retardation. Seizures as the presenting sign of IP in neonates are rarely reported. We report a case of a female newborn with IP who had pleomorphic skin rashes and erythematous vesicles over upper and lower extremities since 5th day of life which were followed by seizures on day 22nd of life. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures and to confirm diagnosis of all such unusual skin lesions histologically.


Keywords


Bloch-sulzberger disease, Incontinentia pigmenti, Neonatal seizures, Neurocutaneous disorder, X linked dominant

Full Text:

PDF

References


Ardelean D, Pope E. Incontinentia pigmenti in boys: A series and review of the literature. Pediatr Dermatol. 2006;23:523 7.

Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: A comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina. 2015;46:650 7.

Winterberg DH, Tijn VDA, Smitt JH, Winterberg S, Vomberg PP. Two neonates with vesicular skin lesions due to incontinentia pigmenti. Ned Tijdschr Geneedsk. 2001;145(45):2178-82.

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(9):1163-70.

Smahi A, Courtois G, Vabres P. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000;405(6785):466-72.

Dupati A, Egbers RG, Helfrich YR. A case of incontinentia pigmenti reactivation after 12-month immunizations. JAAD Case Reports. 2015;1(6):351-2.

Fusco F, Paciolla M, Conte MI. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis. 2014;9:93.

Hadj-Rabia S, Rimella A, Smahi A. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations. J Am Acad Dermatol. 2011;64(3):508-15.

Hubert JN, Callen JP. Incontinentia pigmenti presenting as seizures. Pediatr Dermatol. 2002;19:550-2.

Faloyin M, Lewitt J, Bercowitz E, Carrasso D, Tan J. All that is vesicular is not herpes: incontinentia pigmenti masquerading as herpes simplex virus in a newborn. Pediatrics. 2004;114:270-22.

Rodrigues V, Diamantino F, Voutsen O, Cunha MS, Barroso R, Lopes MJ, et al. Incontinentia pigmenti in the neonatal period. BMJ Case Rep. 2011;2011:3708.

Scheuerle AE, Ursini MV. Incontinentia pigmenti. In: Pagon RA, Adam MP, Ardinger HH. editors. GeneReviews®. Seattle, WA: University of Washington, Seattle. 1993 2016.

Narayanan MH, Sampathkumar R, Narayanan V. Handbook of clinical neurology. Incontinentia pigmenti (Bloch–ulzberger syndrome). In: Islam MP, Roach ES, editors. Handb Clin Neurol. 2015;132:271-80.

Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014;85:536 42.

Jean-Baptiste S, O’Toole EA, Chen M. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. 2002;127(3):470-8.

Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, et al. Incontinentia pigmenti. An Bras Dermatol. 2014;89(1):26-36.

Basilius J, Young MP, Michaelis TC, Hobbs R, Jenkins G, Hartnett ME. Structural abnormalities of the inner macula in incontinentia pigmenti. JAMA Ophthalmol. 2015;133(9):1067-72.