Two Cases of Incontinentia Pigmenti Simulating Child Abuse

ABSTRACT. In the United States 1.4 million childrenwere maltreated in 1988, resulting in an estimated 2000 to5000 deaths.1 Largely due to the rising awareness and sen-sitivity to the horrors of child abuse, the number of deathsdeclined to approximately 1500 in 1993.2 Guidelines havebeen published to aid in the identification and manage-ment of child maltreatment,3 and reporting of all suspiciouscases is mandated by law. In our zealous efforts to protectchildren, some families are investigated because of misdi-agnosed abnormalities, often cutaneous,4 leading to the un-intentional injury of both patients and their families.5–7

In this report, we describe two patients with cutaneousand/or visceral manifestations of incontinentia pigmenti(IP) who were initially thought to be victims of childabuse. Pediatrics 1997;100(4). URL: http://www.pediatrics.org/cgi/content/full/100/4/e6; incontinentia pig-menti, child abuse.

ABBREVIATIONS. IP, incontinentia pigmenti; WBC, white bloodcells; RBC, red blood cells; Hb, hemoglobin; PT, prothrombin time;PTT, partial thromboplastin time; CT, computed tomography.

CASE REPORTS

Case 1

The patient is a 6-day-old girl transferred from an outsidehospital for seizures. She was born at 41 weeks gestationby spontaneous vaginal delivery (birth weight 7 pounds),

to an 18-year-old primiparous mother who denied chlamydial,syphilitic, or gonorrheal infection, or substance abuse (alcohol,drugs, tobacco). There was no history of premature rupture ofmembranes or maternal fever. The delivery was complicated bythin meconium requiring oropharyngeal suctioning without intu-bation. Vitamin K was given intramuscularly. The infant wasdischarged to home at 24 hours of life.

On the second day of life, the primary care takers (mother andmaternal grandmother) noted seizure activity, described as eyedeviation to the right, left upper extremity flexion with adduction,and right upper extremity extension with hypertonicity. Theseepisodes lasted approximately 30 seconds each, occurred threetimes per day and were associated with cyanosis. The patient wasnoted to have decreased oral intake and three loose stools on day3 of life. There was no vomiting or fever reported and no historyof trauma or medications. The family history was notable for aseizure in a maternal aunt; no history of sickle cell, bleeding orclotting diseases existed. The maternal grandmother was involvedwith the Department of Child and Family Services, which handleschild abuse, when the patient’s mother was 6 years old and againat the age of 10 years. Both cases were unfounded and dismissed.The patient was seen by a visiting nurse who advised that thepatient be evaluated by a physician.

The patient was seen by a physician on day 5 of life, whotransferred the infant to a nearby community emergency de-partment because of brief recurrent seizures. At the emergencydepartment the physical examination was notable for a quiet,seemingly withdrawn infant with stable vital signs, bilateralretinal hemorrhages, hyperpigmented macules, primarily onthe anterior thorax and the extremities (lower greater than

upper extremities) and ecchymoses over the buttocks and thelumbar spine (Fig 1 and Fig 2). The heart, lung, and abdominalexaminations were normal. The evaluation included a lumbarpuncture (1 white blood cell[WBC]/mm,3 12 red blood cell[RBC]/mm,3 glucose 86 mg/dL, protein 89 mg/dL), a completeblood cell count (WBC 15 700 k/microL; hemoglobin [Hb] 17.5g/dL; platelets 87 000 k/microL), coagulation studies (pro-thrombin time [PT] 12.5 seconds, partial thromboplastin time[PTT] 22.7 seconds) and a computed tomography [CT] brainscan (diffuse cerebral infarcts and edema with sparing of thebasal ganglia, thalamus, cerebellum and brainstem) (Fig 3). Thepatient was given phenobarbital, ampicillin, and ceftriaxonebefore transfer to a pediatric medical facility. The primarydiagnosis was shaken baby syndrome.

On arrival to our hospital, the infant was stabilized in the emer-gency department and admitted to the intensive care unit. Furtheranticonvulsant therapy as well as endotracheal intubation was re-quired. Neurosurgical and social work evaluations were institutedimmediately. Ophthalmological consultation reported bilateral reti-nal hemorrhages. The initial assessment of the emergency medicineand intensive care physicians was that of nonaccidental injury. Areport was filed with the Department of Child and Youth Services. Astate investigator for the Division of Child Protection interviewed thefamily and examined the child 24 hours after the patient’s admissionto the hospital. The police were notified shortly thereafter and pho-tographed the infant’s dermatologic findings.

The diagnosis became clearer with pediatric dermatologic con-sultation that recognized the ecchymoses to be hyperpigmentedswirls that followed the lines of Blaschko. Within 24 hours, vesi-cles appeared with patterning along Blaschko’s lines. Furtherprobing of the family history revealed the maternal grandmother hadmultiple miscarriages; the maternal grandmother and the maternalgreat grandmother had early-onset cataracts; the maternal grand-mother had retinal detachment; and the mother and the maternalaunts had similar skin findings as children (one maternal aunt haspersistent skin lesions as an adult). The family history in conjunctionwith the neurologic, ophthalmologic, and especially the dermatologicfindings pointed to the diagnosis of the X-linked dominant geneticdisorder IP. Skin biopsy confirmed the diagnosis.

Case 2The second patient is a 1-month-old Hispanic girl who was

brought to the emergency department by her parents because ofa worsening skin rash. The neonate was an 8 lb, 3 oz product ofa full-term gestation to a 33-year-old gravida 5 para 3 motherafter an uncomplicated pregnancy. She was born via cesareansection because of a nuchal cord. There were no problems in thenursery and she went home with her mother. At approximately2 weeks of age the patient developed vesicular lesions on herback and arms that crusted over shortly thereafter (Fig 4). Thepatient’s pediatrician referred the infant to a dermatologist whomade the diagnosis of impetigo. New skin lesions developed inaddition to the impetiginous ones over the patient’s third weekof life. During a visit with her pediatrician at 24 days of life,hyperpigmented linear lesions were noted on the patient’strunk and faintly on the extremities (Fig 5). Poor weight gainwas documented (weight 25th percentile, length 50th percen-tile). The hair, (limited) ophthalmologic, and neurologic exam-inations were normal. Nonaccidental injury and neglect weresuspected and a social worker was notified for consultation.The state Department of Child and Youth Services was con-tacted for further investigation.

The next day additional hyperpigmented linear lesions werenoted by the mother on the infant’s trunk and extremities. Thefamily brought the infant to the emergency department for asecond opinion and further evaluation. The family history re-vealed that the patient’s mother had two prior miscarriages andthe maternal grandmother had three miscarriages as well as threehealthy daughters. The mother denied having any dermatologic

Received for publication Dec 31, 1996; accepted Mar 19, 1997.Reprint requests to (L.C.) Department of Emergency Medicine, RhodeIsland Hospital, 593 Eddy St, Providence, RI 02903.PEDIATRICS (ISSN 0031 4005). Copyright © 1997 by the American Acad-emy of Pediatrics.

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disorders as a child, though on examination she did haveseveral barely visible areas of decreased pigmentation in linearstreaks on the back of her legs. Based primarily on the derma-tologic findings, the clinical diagnosis of IP was made by thepediatric emergency physician and confirmed by a pediatricdermatologist. Future evaluations with neurology, ophthalmol-ogy, and genetics were arranged; social services was madeaware of the diagnosis.

DISCUSSIONSuspected nonaccidental injury must be re-

ported to the appropriate authorities. Misdiag-nosed cases of child abuse also deserve reportingto prevent recurrent misinterpretation by others.Many examples of cutaneous disorders that weremisdiagnosed as a result of suspicious findingshave been published.8 –16 These are the first pub-lished case reports of IP as a potential masquer-ader of child abuse.

IP is a rare genodermatosis. It is a multisystem,neuroectodermal disorder characterized by dermato-logic, dental and, in a minority of patients, ocularand neurologic abnormalities. The name IP describesthe characteristic, although nonspecific, histologicalfinding of incontinence of melanin in the superficialdermis.17

The cutaneous manifestations of IP are diagnostic.Although four stages have been described, all stagesdo not necessarily occur and several stages mayoverlap.17 The lesions of the first stage, collections of

linear vesicles overlying erythema, usually developwithin the first 6 weeks of life. This initial inflamma-tory phase is often accompanied by a marked periph-eral blood leukocytosis with eosinophilia.18 Theselesions can be mistaken for bullous impetigo, herpessimplex, epidermolysis bullosa, dermatitis herpeti-formis, or even second degree burn injury.19 Biopsysections of lesional skin demonstrate intraepidermalpustules of eosinophils, allowing the diagnosis of IPto be confirmed. By the first few months the secondphase is seen, with verrucous plaques, often in alinear configuration.

The lesions of stage 3 are considered the hallmarkof IP. The hyperpigmentation can be very localizedor extensive, but presents as streaks on the extremi-ties or whorls on the trunk. These pigmented lesionsremain static for several years until they fade duringchildhood or adolescence.19 Some patients have lo-calized areas of persistent pigmentation. In otherpatients, flares of the vesiculopustular or even theverrucous lesions occur.

The fourth phase of hypopigmented and/or atro-phic streaks occurs in 14% and 28% of patients re-spectively, and may persist into adulthood. Approx-imately 30% of patients have cicatricial alopecia,which may be the only persistent sign in adultwomen.18

All of the cutaneous manifestations show pat-

Fig 1. Linear streak of pigmentation and erythematous vesicles along the pattern of Blaschko’s lines on the left arm.

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terning along Blaschko’s lines, paths of ectodermalcell migration during embryologic development ofthe skin. This X-linked dominant disorder is gen-erally lethal for affected boys who do not have anormal X chromosome. However, functional mo-saicism occurs in affected girls because of randominactivation of the X chromosome at 12 to 16 daysgestation. Expression of the IP as streaks occurswith activation of the mutant gene. Within thespectrum of IP are girls with minimal involvementand others with extensive involvement, as in bothof our patients.

Central nervous system manifestations probablyrequire fairly extensive activation of the mutant geneor disturbance of critical brain regions. Seizures, asseen in case 1, are the most common disturbance andhave been described in approximately 13% of pa-tients.18 The CT scan findings of the brain of patient1 are consistent with the expected neuropathologicfindings of hemorrhagic white matter encephal-

opathy with massive edema. Atrophy eventuallydevelops.19

Ocular anomalies occur in one third of IP pa-tients, particularly strabismus and cataracts. (Pa-tient 2 was found to have a moderate left eyeesotropia on ophthalmologic follow-up examina-tion at 6 months of age.) Retinal vascular changes,as evidenced in our first patient with hemorrhagesand cotton wool spots, are the most frequentlyreported intraocular abnormalities, and can lead toblindness. Pseudoglioma, a fibrovascular retrolen-tal mass, can evolve to retinal detachment, as in thematernal grandmother of patient 1. This mecha-nism is thought to be analogous to retinopathy ofprematurity.20

These two cases stress the importance of diseaserecognition by pediatric specialists, and of a thor-ough family and social history. In our first case, thematernal grandmother’s previous involvementwith the Department of Child and Youth Services

Fig 2. The back and buttock regionare covered with swirls and streaks ofhyperpigmentation and purple discol-oration with patches of vesicles, allalong the lines of Blaschko.

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was considered to be evidence in favor of nonacci-dental injury. Victims of child maltreatment aremore likely to become abusive parents.3 Further

exploration provided pivotal information againstnonaccidental injury, in that it was the mother’scharacteristic IP skin lesions that had twice (at age6 and age 10 years) been misinterpreted as possibleintentional injury.

IP is rare and is frequently recognized only bypediatric specialists. This illness is vulnerable tomisdiagnosis given that the cutaneous findingsalone can mimic traumatic injuries. Herpessimplex is the most common misdiagnosis in theneonate with blisters and seizures. The additionalfindings in IP of hyperpigmented skin streaks andhemorrhagic manifestations of the eyes andbrain easily lead one to consider child abuse. IPshould be included in the list of childhood dis-eases that can be misinterpreted as child maltreat-ment.

Lydia Ciarallo, MD

Division of Emergency MedicineDepartment of PediatricsBrown University School of MedicineProvidence, RI 02903

Amy S. Paller, MD

Division of DermatologyDepartment of PediatricsNorthwestern University School oof MedicineChicago, ILFig 3. Diffuse cerebral infarcts and edema.

Fig 4. Forearm vesicles with overlying granulation tissue.

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REFERENCES1. National Center on Child Abuse and Neglect. Study Findings: Study

of National Incidence and Prevalence of Child Abuse and Neglect—1988.Washington, DC: Department of Health and Human Services; 1988

2. McClain PW, Sacks JJ, Froehlk RG, Ewigman BG. Estimates of fatal childabuse and neglect, United States, 1979 through 1988. Pediatrics. 1993;91:338–343

3. American Medical Association Report of the Council on ScientificAffairs: AMA diagnostic and treatment guidelines concerning childabuse and neglect. JAMA. 1985;254:796–800

4. Ellerstein NS. The cutaneous manifestations of child abuse and neglect.Am J Dis Child. 1979;133:906–909

5. Anh NT. “Pseudobattered child” syndrome. JAMA. 1976;236:22886. Kirschner RH, Stein RJ. The mistaken diagnosis of child abuse. Am J Dis

Child. 1985;139:873–8757. Silverman FN. Child abuse: the conflict of underdetection and overre-

porting. Pediatrics. 1987;80:441–4438. Dungy CI. Mongolian spots, day care centers and child abuse. Pediatrics.

1982;69:6729. O’Hare AE, Eden OB. Bleeding disorders and non-accidental injury.

Arch Dis Child. 1984;59:860–86410. Waskerwitz S, Christoffel KK, Hauger S. Hypersensitivity vasculitis

presenting as suspected child abuse: case report and literature review.Pediatrics. 1981;67:283–284

11. Asner RS, Wisotsky DH. Cupping lesions simulating child abuse. J Pe-diatr. 1981;99:267–268

12. Coffman K, Boyce WT, Hansen RC. Phytodermatitis simulating childabuse. Am J Dis Child. 1985;139:29–40

13. Adler R, Kane-Nussen B. Erythema multiforme: confusions with childbattering syndrome. Pediatrics. 1983;72:718–720

14. Owen S, Durst RD. Ehlers-Danlos syndrome simulating child abuse.Arch Dermatol. 1984;120:97–101

15. Saulsbury FT, Haydn GF. Skin conditions simulating child abuse. Pedi-atr Emerg Care. 1985;1:147–150

16. Brown J, Melinkovich P. Schonlein-Henoch purpura misdiagnosed assuspected child abuse: a case report and literature review. JAMA. 1986;256:617–618

17. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syn-drome). J Med Genet. 1993;30:53–59

18. Carney RG. Incontinentia pigmenti: a world statistical analysis. ArchDermatol 1976;112:535–542

19. Cohen BA. Incontinentia pigmenti. Neurol Clin. 1987:361–37720. Goldberg MF. The blinding mechanisms of incontinentia pigmenti.

Ophthal Genet. 1994;15:69–76

Fig 5. Streaks of hyperpigmentation on the chest and proximal right arm.

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DOI: 10.1542/peds.100.4.e61997;100;e6Pediatrics 

Lydia Ciarallo and Amy S. PallerTwo Cases of Incontinentia Pigmenti Simulating Child Abuse

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Lydia Ciarallo and Amy S. PallerTwo Cases of Incontinentia Pigmenti Simulating Child Abuse

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