Interpretation of European consensus for the diagnosis and practical management of patients with incontinentia pigmenti_Chinese Journal of Evidence-Based Medicine

Authors：

DING Ying , SHI Chenlong , TAO Congmin , PENG Ying , LI Wei ,  YI Yangyan

Department of Medical Aesthetics, the Second Affiliated Hospital of Nanchang University, Nanchang 330006, P.R.China;

Corresponding author：

YI Yangyan, Email: yyy0218@126.com

Keywords：

Incontinentia pigmenti; Skin histology; Complication; Diagnosis; Practical management

DOI：

10.7507/1672-2531.202105183

Video：

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Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by specific skin lesions. The disease can be misdiagnosed in infants and may have severe complications affecting the eyes and/or the brain. European Network for Rare Skin Diseases (ERN-Skin) issued multidisciplinary consensus recommendations for the diagnosis and practical management of patients with incontinentia pigmenti in March 2020, which put forward the guidance of the diagnosis, treatment, follow-up, etc. for incontinentia pigmenti. This paper interpreted the consensus to provide references for the diagnosis and management of incontinentia pigmenti.

Citation： DING Ying, SHI Chenlong, TAO Congmin, PENG Ying, LI Wei, YI Yangyan. Interpretation of European consensus for the diagnosis and practical management of patients with incontinentia pigmenti. Chinese Journal of Evidence-Based Medicine, 2021, 21(10): 1117-1121. doi: 10.7507/1672-2531.202105183 Copy

1.	Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis, 2014, 9: 93.
2.	Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin Genet, 2014, 85(6): 536-542.
3.	Dupati A, Egbers RG, Helfrich YR. A case of incontinentia pigmenti reactivation after 12-month immunizations. JAAD Case Rep, 2015, 1(6): 351-352.
4.	Ferneiny M, Hadj-Rabia S, Regnier S, et al. Unique subungueal keratoacanthoma revealing incontinentia pigmenti. J Eur Acad Dermatol Venereol, 2016, 30(8): 1401-1403.
5.	Rosenthal AC, Fölster-Holst R. Incontinentia pigmenti: herpes simplex infection as an important differential diagnosis in the neonatal period. Hautarzt, 2017, 68(2): 149-152.
6.	Pizzamiglio MR, Piccardi L, Bianchini F, et al. Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. PLoS One, 2014, 9(1): e87771.
7.	Pizzamiglio MR, Piccardi L, Bianchini F, et al. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the incontinentia pigmenti syndrome: recommendations for clinical management. Appl Neuropsychol Child, Oct-Dec 2017, 6(4): 327-334.
8.	Kibbi N, Totonchy M, Suozzi KC, et al. A case of subungual tumors of incontinentia pigmenti: a rare manifestation and association with bipolar disease. JAAD Case Rep, 2018, 4(7): 737-741.
9.	Wong EH, So HC, Li M, et al. Common variants on Xq28 conferring risk of schizophrenia in Han Chinese. Schizophr Bull, 2014, 40(4): 777-786.
10.	Firouzabadi SG, Kariminejad R, Vameghi R, et al. Copy number variants in patients with autism and additional clinical features: report of VIPR2 duplication and a novel microduplication syndrome. Mol Neurobiol, 2017, 54(9): 7019-7027.
11.	Maahs MA, Kiszewski AE, Rosa RF, et al. Cephalometric skeletal evaluation of patients with incontinentia pigmenti. J Oral Biol Craniofac Res, 2014, 4(2): 88-93.
12.	Onnis G, Diociaiuti A, Zangari P, et al. Cardiopulmonary anomalies in incontinentia pigmenti patients. Int J Dermatol, 2018, 57(1): 40-45.
13.	Atallah V, Meot M, Kossorotoff M, et al. A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti. Pulm Circ, 2018, 8(4): 2045894018793983.
14.	Scheuerle AE. Incontinentia pigmenti in adults. Am J Med Genet A, 2019, 179(8): 1415-1419.
15.	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.
16.	Chen AY, Chen K. Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Dent, 2017, 11(2): 264-267.
17.	Mariath LM, Santa Maria FD, Poziomczyk CS, et al. Intrafamilial clinical variability in four families with incontinentia pigmenti. Am J Med Genet A, 2018, 176(11): 2318-2324.
18.	Conte MI, Pescatore A, Paciolla M, et al. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat, 2014, 35(2): 165-177.
19.	Alabdullatif Z, Coulombe J, Steffann J, et al. Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. Br J Dermatol, 2018, 178(4): e261-e262.
20.	Mullan E, Barbarian M, Trakadis Y, et al. Incontinentia pigmenti in an XY boy: case report and review of the literature. J Cutan Med Surg, 2014, 18(2): 119-122.
21.	Fusco F, Conte MI, Diociaiuti A, et al. Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males. Pediatrics, 62950.
22.	Hull S, Arno G, Thomson P, et al. Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. Am J Med Genet A, 2015, 167(7): 1601-1604.
23.	Dangouloff-Ros V, Hadj-Rabia S, Oliveira Santos J, et al. Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. Mol Genet Metab, 2017, 122(3): 140-144.
24.	Wolf DS, Golden WC, Hoover-Fong J, et al. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. J Child Neurol, 2015, 30(1): 100-106.
25.	Tomotaki S, Shibasaki J, Yunoki Y, et al. Effectiveness of corticosteroid therapy for acute neurological symptoms in incontinentia pigmenti. Pediatr Neurol, 2016, 56: 55-58.
26.	Greene-Roethke C. Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols. J Pediatr Health Care, 2017, 31(6): e45-e52.
27.	Körbelin J, Dogbevia G, Michelfelder S, et al. A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases. EMBO Mol Med, 2016, 8(6): 609-625.

1. Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis, 2014, 9: 93.
2. Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin Genet, 2014, 85(6): 536-542.
3. Dupati A, Egbers RG, Helfrich YR. A case of incontinentia pigmenti reactivation after 12-month immunizations. JAAD Case Rep, 2015, 1(6): 351-352.
4. Ferneiny M, Hadj-Rabia S, Regnier S, et al. Unique subungueal keratoacanthoma revealing incontinentia pigmenti. J Eur Acad Dermatol Venereol, 2016, 30(8): 1401-1403.
5. Rosenthal AC, Fölster-Holst R. Incontinentia pigmenti: herpes simplex infection as an important differential diagnosis in the neonatal period. Hautarzt, 2017, 68(2): 149-152.
6. Pizzamiglio MR, Piccardi L, Bianchini F, et al. Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. PLoS One, 2014, 9(1): e87771.
7. Pizzamiglio MR, Piccardi L, Bianchini F, et al. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the incontinentia pigmenti syndrome: recommendations for clinical management. Appl Neuropsychol Child, Oct-Dec 2017, 6(4): 327-334.
8. Kibbi N, Totonchy M, Suozzi KC, et al. A case of subungual tumors of incontinentia pigmenti: a rare manifestation and association with bipolar disease. JAAD Case Rep, 2018, 4(7): 737-741.
9. Wong EH, So HC, Li M, et al. Common variants on Xq28 conferring risk of schizophrenia in Han Chinese. Schizophr Bull, 2014, 40(4): 777-786.
10. Firouzabadi SG, Kariminejad R, Vameghi R, et al. Copy number variants in patients with autism and additional clinical features: report of VIPR2 duplication and a novel microduplication syndrome. Mol Neurobiol, 2017, 54(9): 7019-7027.
11. Maahs MA, Kiszewski AE, Rosa RF, et al. Cephalometric skeletal evaluation of patients with incontinentia pigmenti. J Oral Biol Craniofac Res, 2014, 4(2): 88-93.
12. Onnis G, Diociaiuti A, Zangari P, et al. Cardiopulmonary anomalies in incontinentia pigmenti patients. Int J Dermatol, 2018, 57(1): 40-45.
13. Atallah V, Meot M, Kossorotoff M, et al. A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti. Pulm Circ, 2018, 8(4): 2045894018793983.
14. Scheuerle AE. Incontinentia pigmenti in adults. Am J Med Genet A, 2019, 179(8): 1415-1419.
15. 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.
16. Chen AY, Chen K. Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Dent, 2017, 11(2): 264-267.
17. Mariath LM, Santa Maria FD, Poziomczyk CS, et al. Intrafamilial clinical variability in four families with incontinentia pigmenti. Am J Med Genet A, 2018, 176(11): 2318-2324.
18. Conte MI, Pescatore A, Paciolla M, et al. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat, 2014, 35(2): 165-177.
19. Alabdullatif Z, Coulombe J, Steffann J, et al. Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. Br J Dermatol, 2018, 178(4): e261-e262.
20. Mullan E, Barbarian M, Trakadis Y, et al. Incontinentia pigmenti in an XY boy: case report and review of the literature. J Cutan Med Surg, 2014, 18(2): 119-122.
21. Fusco F, Conte MI, Diociaiuti A, et al. Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males. Pediatrics, 62950.
22. Hull S, Arno G, Thomson P, et al. Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. Am J Med Genet A, 2015, 167(7): 1601-1604.
23. Dangouloff-Ros V, Hadj-Rabia S, Oliveira Santos J, et al. Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. Mol Genet Metab, 2017, 122(3): 140-144.
24. Wolf DS, Golden WC, Hoover-Fong J, et al. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. J Child Neurol, 2015, 30(1): 100-106.
25. Tomotaki S, Shibasaki J, Yunoki Y, et al. Effectiveness of corticosteroid therapy for acute neurological symptoms in incontinentia pigmenti. Pediatr Neurol, 2016, 56: 55-58.
26. Greene-Roethke C. Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols. J Pediatr Health Care, 2017, 31(6): e45-e52.
27. Körbelin J, Dogbevia G, Michelfelder S, et al. A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases. EMBO Mol Med, 2016, 8(6): 609-625.

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