Diagnostic Considerations

For stage 1 (vesicular), also consider the following:

Bullous impetigo
Herpes simplex
Varicella (herpes) zoster
Epidermolysis bullosa
Bullous mastocytosis
Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis)
Congenital bullous pemphigoid
Linear IgA bullous disease of childhood
Langerhans cell histiocytosis
Erythema toxicum
Miliaria
Acropustulosis of infancy
Arthropod assault

For stage 2 (verrucous), also consider the following:

Linear epidermal nevus
Lichen striatus
X-linked dominant chondrodysplasia punctata
Verruca vulgaris

For stage 3 (pigmented), also consider the following:

Linear and whorled nevoid hypermelanosis
Pigmentary mosaicism
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
X-linked dominant chondrodysplasia punctata

For stage 4 (depigmented), also consider the following:

Hypomelanosis of Ito (incontinentia pigmenti achromians)
Focal dermal hypoplasia syndrome (Goltz syndrome)
X-linked dominant chondrodysplasia punctata

Differential Diagnoses

Workup

Maingay-de Groof F, Lequin MH, Roofthooft DW, et al. Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur J Paediatr Neurol. 2008 Jul. 12(4):284-9. [QxMD MEDLINE Link].
Jean-Baptiste S, O'Toole EA, Chen M, Guitart J, Paller A, Chan LS. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. 2002 Mar. 127(3):470-8. [QxMD MEDLINE Link]. [Full Text].
Ohkawa N, Okumura A, Miyata R, Tanuma N, Hayashi M, Sato H, et al. Cerebrospinal fluid oxidative stress marker levels and cytokine concentrations in a neonate with incontinentia pigmenti. Pediatr Neurol. 2014 Nov. 51 (5):737-40. [QxMD MEDLINE Link].
Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, et al. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet. 2012 Mar 15. 21(6):1260-71. [QxMD MEDLINE Link].
Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, et al. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease. Hum Mutat. 2014 Feb. 35(2):165-77. [QxMD MEDLINE Link].
Makris C, Godfrey VL, Krähn-Senftleben G, et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell. 2000 Jun. 5(6):969-79. [QxMD MEDLINE Link].
Schmidt-Supprian M, Bloch W, Courtois G, et al. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell. 2000 Jun. 5(6):981-92. [QxMD MEDLINE Link].
Khan AO, Al-Kahtani E, Kondkar AA, Abu-Amero KK. Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation. Clin Dysmorphol. 2014 Apr. 23 (2):52-5. [QxMD MEDLINE Link].
Kenwrick S, Woffendin H, Jakins T, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. 2001 Dec. 69(6):1210-7. [QxMD MEDLINE Link]. [Full Text].
Mansour S, Woffendin H, Mitton S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet. 2001 Mar 1. 99(2):172-7. [QxMD MEDLINE Link].
Fusco F, Conte MI, Diociaiuti A, Bigoni S, Branda MF, Ferlini A, et al. Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. Pediatrics. 2017 Sep. 140 (3):[QxMD MEDLINE Link].
Rashidghamat E, Hsu CK, Nanda A, Liu L, Al-Ajmi H, McGrath JA. Incontinentia pigmenti in a father and daughter. Br J Dermatol. 2016 Nov. 175 (5):1059-1060. [QxMD MEDLINE Link].
Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014 Jun. 85 (6):536-42. [QxMD MEDLINE Link].
Mariath LM, Santa Maria FD, Poziomczyk CS, Travi GM, Wachholz GE, De Souza SR, et al. Intrafamilial clinical variability in four families with incontinentia pigmenti. Am J Med Genet A. 2018 Nov. 176 (11):2318-2324. [QxMD MEDLINE Link].
Osorio F, Magina S, Nogueira A, Azevedo F. Incontinentia Pigmenti with vesicular stage in utero. Dermatol Online J. 2010 Oct 15. 16(10):13. [QxMD MEDLINE Link].
Alikhan A, Lee AD, Swing D, Carroll C, Yosipovitch G. Vaccination as a probable cause of incontinentia pigmenti reactivation. Pediatr Dermatol. 2010 Jan 1. 27(1):62-4. [QxMD MEDLINE Link].
van Leeuwen RL, Wintzen M, van Praag MC. Incontinentia pigmenti: an extensive second episode of a "first-stage" vesicobullous eruption. Pediatr Dermatol. 2000 Jan-Feb. 17(1):70. [QxMD MEDLINE Link].
Darne S, Carmichael AJ. Isolated recurrence of vesicobullous incontinentia pigmenti in a schoolgirl. Br J Dermatol. 2007 Mar. 156(3):600-2. [QxMD MEDLINE Link].
Bodak N, Hadj-Rabia S, Hamel-Teillac D, de Prost Y, Bodemer C. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism. Arch Dermatol. 2003 Feb. 139(2):201-4. [QxMD MEDLINE Link].
Nicolaou N, Graham-Brown RA. Nail dystrophy, an unusual presentation of incontinentia pigmenti. Br J Dermatol. 2003 Dec. 149(6):1286-8. [QxMD MEDLINE Link].
Abimelec P, Rybojad M, Cambiaghi S, et al. Late, painful, subungual hyperkeratosis in incontinentia pigmenti. Pediatr Dermatol. 1995 Dec. 12(4):340-2. [QxMD MEDLINE Link].
Montes CM, Maize JC, Guerry-Force ML. Incontinentia pigmenti with painful subungual tumors: a two-generation study. J Am Acad Dermatol. 2004 Feb. 50(2 Suppl):S45-52. [QxMD MEDLINE Link].
Simmons DA, Kegel MF, Scher RK, Hines YC. Subungual tumors in incontinentia pigmenti. Arch Dermatol. 1986 Dec. 122(12):1431-4. [QxMD MEDLINE Link].
Young A, Manolson P, Cohen B, Klapper M, Barrett T. Painful subungal dyskeratotic tumors in incontinentia pigmenti. J Am Acad Dermatol. 2005 Apr. 52 (4):726-9. [QxMD MEDLINE Link].
Ferneiny M, Hadj-Rabia S, Regnier S, Ortonne N, Smahi A, Steffann J, et al. Unique subungueal keratoacanthoma revealing incontinentia pigmenti. J Eur Acad Dermatol Venereol. 2015 Sep 21. [QxMD MEDLINE Link].
Jamnadas B, Agarwal R, Caddy CM. A rare case of SCC in a young patient with incontinentia pigmenti. J Plast Reconstr Aesthet Surg. 2008 Aug. 61 (8):973-4. [QxMD MEDLINE Link].
Pena ZG, Brewer JD. Multiple subungual squamous cell carcinomas in a patient with incontinentia pigmenti. Dermatol Surg. 2014 Oct. 40 (10):1159-61. [QxMD MEDLINE Link].
Macey-Dare LV, Goodman JR. Incontinentia pigmenti: seven cases with dental manifestations. Int J Paediatr Dent. 1999 Dec. 9(4):293-7. [QxMD MEDLINE Link].
Minic S, Novotny GE, Trpinac D, Obradovic M. Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral Investig. 2006 Dec. 10(4):343-7. [QxMD MEDLINE Link].
Minic S, Trpinac D, Gabriel H, Gencik M, Obradovic M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2012 Mar 28. [QxMD MEDLINE Link].
Minic S, Trpinac D, Gabriel H, Gencik M, Obradovic M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2013 Jan. 17(1):1-8. [QxMD MEDLINE Link]. [Full Text].
Maahs MA, Kiszewski AE, Rosa RF, Maria FD, Prates FB, Zen PR. Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti. J Oral Biol Craniofac Res. 2014 May-Aug. 4 (2):88-93. [QxMD MEDLINE Link].
Heathcote JG, Schoales BA, Willis NR. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. Can J Ophthalmol. 1991 Jun. 26(4):229-37. [QxMD MEDLINE Link].
Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. 2000 Jun. 78(3):348-53. [QxMD MEDLINE Link].
Selvadurai D, Salomao DR, Baratz KH. Corneal abnormalities in incontinentia pigmenti: histopathological and confocal correlations. Cornea. 2008 Aug. 27(7):833-6. [QxMD MEDLINE Link].
Ferreira RC, Ferreira LC, Forstot L, King R. Corneal abnormalities associated with incontinentia pigmenti. Am J Ophthalmol. 1997 Apr. 123(4):549-51. [QxMD MEDLINE Link].
Basilius J, Young MP, Michaelis TC, Hobbs R, Jenkins G, Hartnett ME. Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti. JAMA Ophthalmol. 2015 Sep. 133 (9):1067-72. [QxMD MEDLINE Link].
Meuwissen ME, Mancini GM. Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet. 2012 May 4. [QxMD MEDLINE Link].
Chen CJ, Han IC, Tian J, Muñoz B, Goldberg MF. Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. JAMA Ophthalmol. 2015 May. 133 (5):542-8. [QxMD MEDLINE Link].
Minic S, Trpinac D, Obradovic M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis. 2013 Feb 13. 8:25. [QxMD MEDLINE Link]. [Full Text].
Turkmen M, Eliacik K, Temocin K, Savk E, Tosun A, Dikicioglu E. A rare cause of neonatal seizure: incontinentia pigmenti. Turk J Pediatr. 2007 Jul-Sep. 49(3):327-30. [QxMD MEDLINE Link].
Hubert JN, Callen JP. Incontinentia pigmenti presenting as seizures. Pediatr Dermatol. 2002 Nov-Dec. 19(6):550-2. [QxMD MEDLINE Link].
Cartwright MS, White DL, Miller LM 3rd, Roach ES. Recurrent stroke in a child with incontinentia pigmenti. J Child Neurol. 2009 May. 24(5):603-5. [QxMD MEDLINE Link].
Kaczala GW, Messer MA, Poskitt KJ, Prendiville JS, Gardiner J, Senger C. Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis. Eur J Pediatr. 2008 Sep. 167(9):979-83. [QxMD MEDLINE Link].
Hart AR, Edwards C, Mahajan J, Wood ML, Griffiths PD. Destructive encephalopathy in incontinentia pigmenti. Dev Med Child Neurol. 2009 Feb. 51(2):162-3. [QxMD MEDLINE Link].
Wolf NI, Kramer N, Harting I, et al. Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation. AJNR Am J Neuroradiol. 2005 Jun-Jul. 26(6):1580-2. [QxMD MEDLINE Link].
Aydingoz U, Midia M. Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology. 1998 Jun. 40(6):364-6. [QxMD MEDLINE Link].
Lou H, Zhang L, Xiao W, Zhang J, Zhang M. Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti. AJNR Am J Neuroradiol. 2008 Mar. 29(3):431-3. [QxMD MEDLINE Link].
Yoshikawa H, Uehara Y, Abe T, Oda Y. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr Neurol. 2000 Oct. 23(4):364-7. [QxMD MEDLINE Link].
Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, et al. Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. PLoS One. 2014. 9 (1):e87771. [QxMD MEDLINE Link].
Barros B, Helm K, Zaenglein A, Seiverling E. Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate. Pediatr Dermatol. 2017 Jul. 34 (4):e203-e204. [QxMD MEDLINE Link].
Bhoyrul B, Lyon C, Stables G. Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti?. Dermatol Surg. 2017 Dec. 43 (12):1501-1503. [QxMD MEDLINE Link].
Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco 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. 2017 Oct-Dec. 6 (4):327-334. [QxMD MEDLINE Link].
Pascual-Castroviejo I, Roche MC, Martinez Fernandez V, et al. Incontinentia pigmenti: MR demonstration of brain changes. AJNR Am J Neuroradiol. 1994 Sep. 15(8):1521-7. [QxMD MEDLINE Link].
Lee AG, Goldberg MF, Gillard JH, Barker PB, Bryan RN. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med. 1995 May. 149(5):573-80. [QxMD MEDLINE Link].
Kasai T, Kato Z, Matsui E, et al. Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography. Acta Paediatr. 1997 Jun. 86(6):665-7. [QxMD MEDLINE Link].
Chan YC, Happle R, Giam YC. Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti?. J Am Acad Dermatol. 2003 Nov. 49(5):929-31. [QxMD MEDLINE Link].
Fraitag S, Rimella A, de Prost Y, Brousse N, Hadj-Rabia S, Bodemer C. Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies. J Cutan Pathol. 2009 Sep. 36(9):966-71. [QxMD MEDLINE Link].
Kaya TI, Tursen U, Ikizoglu G. Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti. Clin Exp Dermatol. 2009 Dec. 34(8):e611-3. [QxMD MEDLINE Link].
Jessup CJ, Morgan SC, Cohen LM, Viders DE. Incontinentia pigmenti: treatment of IP with topical tacrolimus. J Drugs Dermatol. 2009 Oct. 8(10):944-6. [QxMD MEDLINE Link].
Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, et al. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. J Child Neurol. 2015 Jan. 30 (1):100-6. [QxMD MEDLINE Link].
Tomotaki S, Shibasaki J, Yunoki Y, Kishigami M, Imagawa T, Aida N, et al. Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. Pediatr Neurol. 2015 Dec 18. [QxMD MEDLINE Link].
Dogbevia GK, Töllner K, Körbelin J, Bröer S, Ridder DA, Grasshoff H, et al. Gene therapy decreases seizures in a model of Incontinentia pigmenti. Ann Neurol. 2017 Jul. 82 (1):93-104. [QxMD MEDLINE Link].
Nguyen JK, Brady-Mccreery KM. Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti. J AAPOS. 2001 Aug. 5(4):258-9. [QxMD MEDLINE Link].
Batioglu F, Ozmert E. Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti. Acta Ophthalmol. 2010 Mar. 88(2):267-8. [QxMD MEDLINE Link].

Media Gallery

A 19-day-old female neonate with incontinentia pigmenti. Clean tense vesicles in linear groups are seen extending from the inner aspect of the right knee to the posterior aspect of the right leg and right sole.
A 40-day-old female infant who first presented with incontinentia pigmenti when she was aged 19 days. The vesicles have disappeared, leaving a brownish pigmentation with verrucous lesions.
A 20-day-old female neonate with incontinentia pigmenti. Bullae, vesicles, and verrucous lesions are seen on the lower extremities and buttocks.
A 27-day-old female neonate who first presented with incontinentia pigmenti when she was aged 20 days. Note the verrucous eruptions with brownish pigmentation in a streaky linear pattern on the left leg.
Histologic features of a vesicle in a 20-day-old female neonate who presented with incontinentia pigmenti. The epidermis shows acanthosis, spongiosis, and vesicles, which contain an inflammatory infiltrate that includes eosinophils. The epidermis between the vesicles also shows dyskeratotic cells, either singly or in small clusters (hematoxylin and eosin, original magnification X100).
A 7-month-old female infant with incontinentia pigmenti. Brownish pigmentation in a linear whorled or reticular pattern is present on the trunk.
A 1-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the pigmentation on the left thigh and leg is similar to that on the trunk.
A 6-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the brownish pigmentation on the trunk has largely disappeared, and a small area of pigmentation is left.
Histologic features of the pigmented skin from a 6-year-old girl with incontinentia pigmenti. An inflammatory infiltrate that includes eosinophils is present in the epidermis. Many melanophages are seen in the upper part of the dermis (hematoxylin and eosin, original magnification X100).
Typical bullous eruption in a neonate with incontinentia pigmenti.
Blaschkoid hyperpigmentation in an infant with incontinentia pigmenti.
Conical teeth in an infant with incontinentia pigmenti.

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Incontinentia Pigmenti Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

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