Vol 3, No 2 (2017)
Case report
Published online: 2017-08-21
Page views
983
Article views/downloads
14872
Incontinentia pigmenti — a case report
Forum Dermatologicum 2017;3(2):63-67.
Abstract
Incontinentia pigmenti is a rare genodermatosis, caused by mutations of the NEMO gene, located at X chromosome. It is usually lethal for males, resulting in the observation that most patients are females. Cutaneous manifestations are the most characteristic signs, often occuring in the neonate period and are subdivided into 4 stages. Additionaly, other defects may be associated with the disease including abnormalities of: teeth, eyes, central nervous system, bones. We report the case of a 4-month-old female, presenting skin manifestations of IP just after birth.
Keywords: incontinentia pigmenticlinical presentationinfant
References
- Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis. 2014; 9: 93.
- Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet. 2000; 45(6): 323–326.
- Okita M, Nakanishi G, Fujimoto N, et al. NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients. J Dermatol. 2013; 40(4): 272–276.
- Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001; 10(19): 2171–2179.
- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002; 47(2): 169–87; quiz 188.
- Fusco F, Fimiani G, Tadini G, et al. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. 2007; 56(2): 264–267.
- Ardelean D, Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr Dermatol. 2006; 23(6): 523–527.
- Pacheco TR, Levy M, Collyer JC, et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol. 2006; 55(2): 251–255.
- Basarab T, Dunnill MG, Munn SE, et al. Incontinentia pigmenti: variable disease expression within an affected family. J Eur Acad Dermatol Venereol. 1998; 11(2): 173–176.
- Hadj-Rabia S, Froidevaux D, Bodak N, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 2003; 139(9): 1163–1170.
- Rafatjoo R, Taghdisi Kashani A. Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. J Dent (Shiraz). 2016; 17(3): 233–237.
- Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clinical and Experimental Dermatology. 2005; 30(5): 474–480.
- Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti. An Bras Dermatol. 2014; 89(1): 26–36.
- Swinney CC, Han DP, Karth PA. Incontinentia Pigmenti: A Comprehensive Review and Update. Ophthalmic Surg Lasers Imaging Retina. 2015; 46(6): 650–657.
- Minić S, Trpinac D, Gabriel H, et al. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2013; 17(1): 1–8.
- Santa-Maria FD, Mariath LM, Poziomczyk CS, et al. Dental anomalies in 14 patients with IP: clinical and radiological analysis and review. Clin Oral Investig. 2017; 21(5): 1845–1852.
- O'Doherty M, Mc Creery K, Green AJ, et al. Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol. 2011; 95(1): 11–16.
- Minić S, Trpinac D, Obradović M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet Journal of Rare Diseases. 2013; 8(1): 25.
- Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993; 30(1): 53–59.
