AN INFANT WITH AN INDURATED PATCH ON THE LEG

Stephen Stahr,* Brian Green, D.O.,� John Woosely, M.D.,� Julie Blatt, M.D.,§ Dean S. Morrell, M.D.�*Vanderbilt Medical School Class of 2009 Vanderbilt University, Nashville, TN, �UNC Dept. of Dermatology, Chapel Hill, NC, �UNC Dept. of Pathology, §UNC Dept. of Peds, Divisionof Peds Hem Onc, Chapel Hill, NC, USA

Case PresentationAt birth, a baby boy was seen in the newborn nurseryand noted to have a circumferential red macule on hisright lower extremity (Fig. 1). The patient was born viacesarean section at 36 weeks estimated gestational agebecause of failure of labor to progress. The pregnancywas complicated by maternal hypertension. Theremainder of his examinationwas unremarkable. As hewas otherwise healthy, he was scheduled for follow-upin clinic in 1-month’s time.

At the 1-month follow-up visit, the lesion hadprogressed to an indurated, dusky violaceous plaque(Fig. 2). Platelets were measured and a punch biopsyobtained (Figs. 3 and 4).

What is the diagnosis?

FEVER, ORAL ULCERATIONS, ARTHRALGIAS, NEUTROPENIA, AND A

POLYCYCLIC SKIN ERUPTION IN A 14-YEAR-OLD GIRL

Ryan Turner, M.D.,* Stephen Gellis, M.D.,*�, Birgitta Schmidt, M.D.,� and Robert Sidbury, M.D., M.P.H.*�*Department of Dermatology, Harvard Medical School, Departments of �Pediatrics and �Pathology, Children’s Hospital Boston, Boston, MA, USA

Case ReportA 14-year-old African American female with no priormedical history presented with a 4 week history offever, fatigue, myalgias, cervical adenopathy, arthral-gias, and weight loss with presumed viral parotitis. AMonospot test was positive and a diagnosis of Ep-stein�Barr virus (EBV) infectionhadbeenmade.Threeweeks prior to admission she had developed painfuloral ulcerationsand fatiguewith rashon the face, trunk,hands, and feet. On admission the patient was found tobe essentially pancytopenic with bone marrow aspira-tion negative for malignancy.

Physical examination revealed symmetrical poly-cyclic pink, atrophic plaques with overlying scale andfollicular plugging on the face (Fig. 1), and extensorextremities and confluent, tender erythematous to vio-laceous macules on the bilateral palms and soles(Fig. 2). There were hemorrhagic lip erosions andulcerative white plaques in the oropharnyx (Fig. 3).

Laboratory results included white blood cellcount 1,440 cells ⁄L (N 41%, L 54%, Mo 5%, Eo 0%)hematocrit 24.3%, platelets 50,000 cells ⁄L, a weaklypositive nonspeckled anti-nuclear antibody (ANA =1:40), positive rheumatoid factor (RF), slightly elevatedanti-phospholipid antibodies, and anti-ribonucleic acidantibody (anti-RNP). Serology for EBV showed IgGpositive and IgMnegative. Direct immunofluorescenceassays and cultures for herpes simplex and varicella-zoster were negative.

A provisional diagnosis was made and a 4 mmpunch biopsy from the left arm was obtained.

What is the diagnosis?

SMALL TUMOR ON THE TOE OF A 10-MONTH-OLD

James Click, B.S.,* Michael Fastenberg, M.D.,� Craig N. Burkhart, M.D.,� and Dean S. Morrell, M.D.�*The University of Virginia School of Medicine, Charlottesville, VA, �Department of Dermatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

A 10-month-old male, with no significant peri-natal or past medical history, presented with a smalltumor on the dorsal aspect of the second toe. Theasymptomatic growthwasfirst apparent at 5 monthsofage and slowly enlarged.

Physical examination revealed a 2 · 1 cm dome-shaped, pink, smooth, exophytic mass with a broadbase on the left foot over the dorsum of the second toe(Fig. 1). There was a firm consistency with subtle ery-thema that blanched with pressure. There was noappreciable punctum, drainage, or fluid present. Thelesion did not transilluminate. There was no tendernessto touch. There were normal soft tissue contours,positioning, andmotion of the foot and digits. The nailplate was not involved and there were no other lesionsnoted on the body.

Over time the tumor remained asymptomaticwithout joint or nail deformity, but the family becameconcerned due to its continued growth. Conservativemanagement with nightly clobetasol ointment underocclusion was begun. After 3 months, growth hadstopped and some regression was noted. Encouragedby this progress, the tumor was injected with 0.3 mL oftriamcinolone 40 mg ⁄mL. Three months later, therewas no appreciable change in size. Steroid use wasdiscontinued. At 20 months of age, the lesion was sig-nificantly smaller and continued to regress (Fig. 2).

What is the diagnosis?

PEDIATRIC DERMATOLOGY PHOTOQUIZEditor: Maureen Rogers, M.D., F.A.C.D.

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Diagnosis: Tufted angioma withKasabach�Merritt syndrome

Diagnosis and DiscussionA few hours after biopsy, a new petechial eruptionappeared on his trunk. Previously measured plateletswere found to be 12 · 109 ⁄L. Pathology confirmed thelesion to be a tufted angioma (TA) based upon thevascular nature of the lesion. Higher magnification ofthe area enclosed by the yellow rectangle shows ‘‘can-nonball-like’’ glomeruloid tufts of capillary-sized vas-cular proliferations, separatedbynormal dermis. Basedupon these histologic findings and the abnormalplatelets, a diagnosis was made of Kasabach�Merrittsyndrome (KMS) secondary to TA.

Originally, KMS was defined as platelet con-sumption secondary to hemangiomas (1). Today,KMSis known to be caused by kaposiform hemangioendot-heliomas (KHE) and TA. In addition, there have evenbeen isolated reports of KMS secondary tohemangiopericytoma (2), and angiosarcoma (3), andcongenital hemangioma of the scalp (4). It seems clearnow thatKMSdoes not occur in significant associationwith hemangiomas of infancy (5). Current literaturereveals only one case ofKMSdue to congenital TA (6).It is important to point out that some dermato-pathologists hypothesize that KHE and TA are evolu-tive stages of an identical process due to their similarhistologies (7). For example, KHE and TA can both

have multinodular patterns of an admixture of smallround capillaries and glomeruloid, solid nests of roundand epithelioid endothelial cells (8). KHE is distin-guished histologically from TA, however, by the factthat the individual neoplastic cells of KHE are muchmore spindled than thoseofTAandunlike inTA,KHEwill commonly demonstrate fibrin microthrombi. Clin-ically, the two are distinguished by the fact that thenodules of KHE are larger and exhibit an infiltrativepattern that is capable of involving soft tissue and bone(8).

An estimated 12% of KMS of cases are fatal (9).The evaluation forKMSconsists ofplatelet countandaperipheral blood smear review. Evaluation of fibrino-gen level, fibrin split products, andpresence ofd-dimersmayalso be of assistance. Imaging studies (MRIorCT)can be helpful to reveal vascular enhancement. Finally,a biopsy is useful to histologically characterize thelesion.

Treatment ofKMS is designed to stabilize plateletcount and treat the tumor. The first line of therapyconsists of oral steroids (3�5 mg ⁄kg ⁄day); thisapproach is generally sufficient to increase platelets.Other modes of treatment include surgical excision,vincristine (if steroids ineffective), alpha interferon (9)(effective in 50% but occasionally associated with neu-rologic side effects in infants), radiation therapy (9) (iflife threatening), and sclerosing therapy. It is suggestedthat platelet transfusions be avoided if possible, asadministration can exacerbate thrombocytopenia (10).

References1. Kasabach HH, Merritt KK. Capillary hemangioma with extensive

pupura: report of a case. Am J Dis Child 1940;59:1063�1070.2. Chung KC, Weiss SW, Kuzon WM. Multifocal congenital

hemangiopericytomas associated with Kasabach�Meritt syn-drome. Br J Plast Surg 1995;48:240�242.

3. Imafuku S, Hosokawa C, Moroi Y et al. Kasabach�Merrittsyndrome associated with angiosarcoma of the scalp success-fully treated with chemoradiotherapy. Acta Derm Venereol2008;88:193�194.

4. Hsiao CH, Tsao PN, Hsieh WS. Huge alarming congenitalhemangioma of the scalp presenting as heart failure andKasabach Merritt syndrome: a case report. Eur J Pediatr2007;166:619�620.

5. Enjolras O, Wassef M, Mazoyer E et al. Infants with Kasa-bach�Merritt syndrome do not have ‘true’ hemangiomas. JPediatr 1997;130:211�221.

6. Enjolras O, Wassef M, Dosquet CH et al. Kasabach�Merrittsyndrome engrafted on a congenital tufted angioma. AnnDermatol Venereol 1998;125:257�260.

7. Bienaime A, Rojat-Habib MC, Hesse S et al. Giant vasculartumor in an adult: tufted angioma or kaposiform hemangioendo-thelioma. Ann Dermatol Venereol 2006;133:553�556.

8. Chu CY, Hsiao CH, Chiu HC. Transformation between kaposi-form hemangioendothelioma and tufted angioma. Dermatology2003;206:334�337.

9. Hesselmann S, Micke O, Marquardt T et al. Kasabach�Merrittsyndrome: a review of the therapeuticoptions and acase report ofsuccessful treatment with radiotherapy and interferon alpha. Br JRadiol 2002;75:180�184.

10. Philips WG, Mardsen JR. Kasabach�Merritt syndrome exacer-bated by platelet transfusion. J R Soc Med 1993;86:231�232.

Address correspondence to Stephen Stahr, 1965 Scarritt Place,Nashville, TN 37203, USA, or e-mail: stephen.g.stahr@gmail.com.

Diagnosis: Lupus erythematosus ⁄erythema multiforme overlap

Microscopic Findings and Clinical

CourseThe lesions on the palms were clinically consistent witherythema multiforme (EM). Histopathologic exami-nationof a scaly lesiononanarmrevealedan interstitialdermatitis with epidermal atrophy, hyperkeratosis,focal follicular plugging, basal layer vacuolization, anda mid dermal lymphocytic infiltrate, confirming adiagnosisof lupus erythematosus (LE) (Fig. 4).Furtherserologic testing revealed a negative double-strandedDNA, anti-Smith, and anti-Ro, and La antibodies.

Treatment was initiated with empiric acyclovir,pulse steroids followed by oral prednisone, andhydroxychloroquine 200 mg daily. Mycophenolatemofetil 500 mg twice dailywas added as corticosteroidswere tapered. Facial lesions were treated with hydro-cortisone 2.5% ointment twice daily. There was a

marked overall improvement after 4 weeks. Whiteblood cell andplatelet counts returned tonormalwithin1 month, anemia persisted for 4 months, and ANAremained positive at 1:40.

DiscussionLupus erythematosus ⁄EM overlap appears to be aunique association. In 1963, Rowell described discoidlupus erythematosus (DLE) and EM in four patientsthat hada characteristic immunologicpattern includingspeckled ANA and RF positivity, and precipitatingantibodiestosalineextractofhumantissue(1).Sincethisoriginalpublication, 27 similar caseshavebeen reportedincluding two children under 18 years of age (2�5).Apart from coincident features of EM and LE, whichmay present with acute, subacute, or chronic cutaneouslesions, there is not universal agreement on the featuresthat comprise Rowell’s syndrome (RS), nor if it repre-sents a distinct clinico-immunological entity (6).

Khandpur analyzed 18 reported cases of RSbetween 1963 and 2000. The speckled pattern of ANAwas the most consistent immunologic feature seen in88% of patients (7). Anti-Ro ⁄La antibodies wereobserved in 53%, and RF positivity in 41% of previ-ously reported patients. Mucocutaneous involvementoccurred in 47%of cases.While chilblains were presentin all four of Rowell’s original cases, this has since beenreportedonlyrarelyandwasnotobservedinourpatient.

The criteria for diagnosis of RS have not beenuniform. Zeitouni proposed diagnostic criteria thoughpublished cases demonstrate great heterogeneity (8).Our patient hadANA-negativeLEwith both acute andchronic mucocutaneous manifestations seen in themouth and skin respectively, as well as typical EMlesions on the palms, satisfying two of Zeitouni’s major(LE,EMlesions) andoneminorcriteria (RFpositivity).

The false-positive heterophile antibody (Mono-spot) test was also instructive.Our patient had an initialpositive Monospot but later demonstrated EBV IgGbut no IgM antibodies, consistent with past infection.Awareness of this rare but consistently reported asso-ciation betweenLE andEM, aswell as the potential forfurther diagnostic confusion with a false-positiveMonospot test in LE (9), may permit more rapiddiagnosis and treatment of affected patients. RS istreated with standard lupus agents including antimal-arials and immunosuppressants, and response is similarto that ofDLEorSLEoccurring alone. Steroid-sparingagents such as azothiaprine have also been successful.

References1. Rowell NR, Beck JS, Anderson JR. Lupus erythematosus and

erythema multiforme-like lesions. A syndrome with characteristicimmunological abnormalities. Arch Dermatol 1963;88:176�180.

2. Ramlogan D, Tan BB. SLE and erythema multiforme. Br JDermatol 2000;143:130.

3. Chua SH, Giam YC, Sim CS. Systemic lupus erythematosus witherythema multiforme-like lesions and histiocytic necrotizing lymph-adenitis: a case report. Ann Acad Med 1996;25:599�601.

4. Shadid NH, Thissen CA, van Marion AM et al. Lupus erythemat-osus associated with erythema multiforme: Rowell’s syndrome. IntJ Dermatol 2007;46(Suppl. 3):30�32.

5. Aydogan K, Karadogan S, Balaban Adim S et al. Lupus erythe-matosus associated with erythema multiforme: report of two casesand review of the literature. Int J Dermatol 2005;19:621�627.

6. Shteyngarts AR, Warner MR. Lupus erythematosus associatedwith erythema multiforme: does Rowell syndrome exist? J AmAcad Dermatol 1999;40:773�777.

7. Khandpur S, Das S, Singh MK. Rowell’s syndrome revisited: reportof two cases from India. Int J Dermatol 2005;44:545�549.

8. Zeitouni NC, Funaro D, Cloutier RA et al. Redefining Rowell’ssyndrome. Br J Dermatol 2000;142:343�346.

9. Al-JitawiSA,HakoozBA,KazimiSM.False positive Monospot testin systemic lupus erythematosus. Br J Rheumatol 1987;26:71.

Address correspondence to Robert Sidbury, M.D., M.P.H., Derma-tology Program, Fegan 6, 300 Longwood Avenue, Boston,MA 02115, USA, or e-mail: robert.sidbury@childrens.harvard.edu.

Diagnosis: Infantile digital fibromatosis

DiscussionInfantile digital fibromatosis, also known as inclusionbody fibromatosis or Reye’s tumor, typically manifestsat birth or in the first year of life. These smooth, dome-shaped, skin colored nodules manifest on the distaldorsal and lateral aspects of digits, with a predilectionfor the ulnar three fingers. They do not occur on thethumbs or great toes. Lesions may be solitary, but areoften multiple, involving one or more digits. Tumorsrarely exceed 2 cm in diameter. Males and females areaffected equally (1). Rarely, tumors may develop inolder children and adults outside of the digits.

Histologically, the tumor is composed of myofi-broblasts and is identified by the presence of sphericalintracytoplasmic paranuclear inclusion bodies com-posed of actin filaments (2). These inclusion bodies areconsidered pathognomonic for IDF.

Spontaneous regression of these tumors, oftenwithin 4 years, is well documented. Yet the reportedoccurrence of regression ranges from infrequent (3) tonearly 100% (4). Nonetheless, conservative manage-ment is the treatment of choice, as there is no reportedevidence of malignant transformation or metastases.However, nodules may rarely cause deformities, con-

tractures, or functional impairment, which may persisteven after spontaneous regression. X-rays of affectedjoints do not show bony or joint capsule involvement.Thus, potentially associated deformities are thought tobe due to the myofibroblast’s contractile nature (5).Debulking or excision are recommended in cases ofdeformity and ⁄or functional impairment, and tworecent reports suggest Mohs surgery may be beneficial(6,7). However, local recurrence, with an often exu-berant re-growth within 2 weeks to 6 years, occurs inmore than 60% of cases (1). Re-growth was previouslythought to be due to incomplete excision (4), butrecurrence after histologically confirmed free marginshas been described (3). Therefore, an effective non-excisional approach has been sought.

Nonsurgical treatment options include observa-tion, topical steroids, intralesional steroids, and int-ralesional 5-fluorouracil. As in this case, steroids havegenerated mixed results in the literature. One tumorreportedly resolved with topical steroids (8), but othersreport no appreciable change with intralesional steroidinjections (9). Intralesional injection of 5-fluorouracilhas been reported to cause tumor regression in a singlecase (10).

In conclusion, IDF is an uncommon benigntumor of myofibroblastic derivation. While rapidgrowth can cause digital deformities or functional

impairment, most lesions are asymptomatic. Definitivetherapy is unclear, however, most lesions resolvespontaneously with time.

References1. Beckett JH, Jacobs AH. Recurring digital fibrous tumors of

childhood: a review. Pediatrics 1977;59:401�406.2. Iwasaki H, Kikuchi M, Ohtsuki I et al. Infantile digital fibromatosis:

identification of actin filaments in cytoplasmic inclusions by heavymeromyosin binding. Cancer 1983;52:1653�1661.

3. Moloney SR, Cabbabe EB, Shively RE et al. Recurring digitalfibroma of childhood. J Hand Surg 1986;11:584�587.

4. Bloem JJ, Vuzevski VD, Huffstadt AJ. Recurring digital fibroma ofinfancy. J Bone Joint Surg Br 1974;56:746�751.

5. Burgert S, Jones DHA. Recurring digital fibroma of childhood.J Hand Surg 1996;21:400�402.

6. Albertini JG, Welsch MJ, Conger LA et al. Infantile digitalfibromatosis treated with Mohs micrographic surgery. DermatolSurg 2002;28:959�961.

7. Campbell LB, Petrick MG. Mohs micrographic surgery for aproblematic infantile digital fibroma. Dermatol Surg 2007;33:385�387.

8. Tsuge K. Comprehensive atlas of hand surgery. Chicago, IL:Yearbook Medical Publishers, 1989:841�843.

9. Falco NA, Upton J. Infantile digital fibromas. J Hand Surg1995;20:1014�1020.

10. Chang-Keun O, Hyo-Sung S, Yoo-Wok K et al. Intralesionalfluorouracil injection in infantiledigital fibromatosis.ArchDermatol2005;141:549�550.

Address correspondence to Dean Morrell, M.D., 3100 Departmentof Dermatology, The University of North Carolina at ChapelHill, Thurston Bowles Building, CB # 7287, Chapel Hill, NC 27599-7287, USA or e-mail: dean_morrell@med.unc.edu.

Figure 4.

SMALL TUMOR ON THE TOE OF A 10-MONTH OLD

AN INFANT WITH AN INDURATED PATCH ON THE LEG

FEVER, ORAL ULCERATIONS, ARTHRALGIAS, NEUTROPENIA, AND A

POLYCYCLIC SKIN ERUPTION IN A 14-YEAR-OLD GIRL

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