Complete form of pachydermoperiostosis,

AnBrasDermatol.2020;95(1):98---101

Anais

Brasileiros

de

Dermatologia

IMAGES

IN

DERMATOLOGY

Complete

form

of

pachydermoperiostosis

夽,夽夽

Mônica

Larissa

Padilha

Honório

,

Guilherme

Holanda

Bezerra

,

Vivianne

Lira

da

Câmara

Costa

DermatologyService,HospitalUniversit´rioOnofreLopes,UniversidadeFederaldoRioGrandedoNorte,Natal,RN,Brazil

Received24December2018;accepted26April2019 Availableonline18December2019

KEYWORDS

Adolescenthealth, Heredity,

Osteoarthropathy, Primaryhypertrophic

Abstract Pachydermoperiostosis(PDP)orprimaryhypertrophicosteoarthropathy(PHO) isa

rare hereditary disease characterized by digital clubbing,pachydermia,and periostosis.Its pathogenesisisuncertainandthediagnosisisbasedonclinicalandradiologicaldata.Acomplete formofthesyndromeisreportedinamalepatientwithdiseaseonsetinadolescence,with compatibleclinicalandradiologicalfindings,presentingthethreecardinalfindingsaswellas otherassociatedmanifestations,suchashyperhidrosisandacne.

©2019SociedadeBrasileiradeDermatologia.PublishedbyElsevierEspa˜na,S.L.U.Thisisan openaccessarticleundertheCCBYlicense(http://creativecommons.org/licenses/by/4.0/).

Introduction

Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy(PHO)isararehereditarydiseasethatwas firstdescribedin1868.1_{Itsactualincidenceisunknown,}2_but

asevidencedbytheMEDLINEsearch,atotalof286reported cases were found. Adolescent males are predominantly affected,withmale-to-femaleratioofapproximately7:1.3

Hypertrophicosteoarthropathy(HOA)isdividedinto pri-maryandsecondaryforms.PDP,theprimaryform,accounts

夽 _{How to cite this article: Honório MLP, Bezerra GH, Costa}

VLC.Completeformofpachydermoperiostosis.AnBrasDermatol. 2020;95:98---101.

夽夽_{StudyconductedattheDermatologyService,Hospital}

Univer-sitárioOnofreLopes,Natal,RN,Brazil.

∗_{Correspondingauthor.}

E-mail:monicalarissa14@gmail.com(M.L.P.Honório).

for3---5%ofallcasesofHOA.SecondaryHOA,alsocalled pul-monaryHOA,isassociatedwithunderlyingcardiopulmonary diseases and malignancies.The diagnosis of PDP is estab-lishedwithclinicalandradiologicaldata.1,2

Thisreportdetailsacaseofpachydermoperiostosisina youngmalepatient.

Case

Report

A 24-year-old male patient reported the following since histeens:skinthickeningonthefaceandscalp,aswellas volume increase of the hands and feet.He also reported acne sinceadolescence. The patientdenied any previous family history. Physical examination revealed erythema-tous follicular papules and pustules on face, cutaneous thickening, and accentuationon facialfurrows withcutis verticis gyrata on the forehead (Fig.1) and scalp, where there were soft nodules with alopecia on their surfaces, https://doi.org/10.1016/j.abd.2019.04.009

0365-0596/©2019SociedadeBrasileiradeDermatologia.PublishedbyElsevierEspa˜na,S.L.U.ThisisanopenaccessarticleundertheCC BYlicense(http://creativecommons.org/licenses/by/4.0/).

Completeformofpachydermoperiostosis 99

Figure 1 Erythematous papulesand pustules onface, skin

thickening,andaccentuationoffacialfurrowswithcutaneous gyrata(cutisverticisgyrata)ontheforehead.

Figure2 Scalpwithcutaneousconvolutionsandsoftnodules

withalopeciaontheirsurfaces.

compatiblewithabscessing folliculitis (Fig.2). The hands and feet showed volume increase and digital clubbing (Fig. 3), aswell as increased sweating on the hands and feet (hyperhidrosis). The radiographs of the hands, fists, andkneesshowedabenignhypertrophicperiostealreaction withbone enlargementbyhyperostosis,aswellas densifi-cationandincreaseofthethicknessofadjacentsofttissues

(Fig.4).Theinsulin-likegrowthfactor-1(IGF-1)levelswere normal. Based on clinical characteristics (pachydermia, digital clubbing, and periostosis) the complete form of pachydermoperiostosiswasdiagnosed.

Discussion

PDPisageneticsyndromecharacterizedbythreemain char-acteristics: digital clubbing, pachydermia (thickening and wrinklingontheskinofthefaceand/orscalp),and perios-tosis (increase of periarticular tissue and subperiosteal neoformation bone). Other manifestations include coarse facialfeatures,polyarthritis,cutisverticisgyrata(24%), seb-orrhea,palpebralptosis,hyperhidrosis,acne, arthropathy, andacro-osteolysisofthelongbones.1,2

The generally recognized clinical presentations are as follows:thecompleteform,involvingallthreemajor symp-toms; the incomplete form, with periostosis but without pachydermia;andtheformefrustrawithpachydermiaand minimalornoskeletalanomalies.Bothformsareautosomal dominantwithincompletepenetranceandrecessive inher-itancehasbeensuggested.1---4_{Itbeginsduringchildhoodor}

adolescenceandprogressesgraduallyoverthenextfiveto 20yearsbeforestabilizing.3

The pathogenesis of PDP is still not clearly under-stood. The disease has been mapped to chromosome 4q33-q34 and mutations in HPGD, which encodes for 15-hydroxyprostaglandindehydrogenase,the mainenzyme of prostaglandindegradation,havebeenidentified.5,6

IncreasedlevelsofprostaglandinE2(PGE2)resultingfrom defective degradation due to the implicated gene muta-tions, HPGD and SLCO2A1, appear to contribute to the pathogenesisofPDP.Theseverityofpachydermiaand associ-atedhistologicalchangeshavebeencorrelatedwithserum PGE2levelsand SLCO2A1 genotypes.PGE2can mimicthe activityofosteoblastsandosteoclasts,whichmaybe respon-siblefortheacro-osteolysisandperiostealboneformation. Moreover,theprolongedlocalvasodilatoryeffectsofPGE2 mayexplaindigitalclubbing.7,8

The reported case shows a complete form of the syn-drome in a male patient with a history beginning in adolescence(typicalepidemiology), withcompatible clin-icalandradiologicalfindings,presentingthethreecardinal findingsinadditiontootherassociatedmanifestations,such ashyperhidrosis andacne. Althoughit is knownthat one-third of PDP patients have a family history,3 _{the present}

patientdidnothave relativeswithsuspected characteris-tics. A normal level of IGF-1 is strong evidence that the patientdoes not have acromegaly, which is an important differentialdiagnosis.3

A definitive treatment for disease has not been established.Symptomatic management withnon-steroidal anti-inflammatory drugs (NSAIDs), simple analgesics, and intravenous bisphosphonates is currently being used. In addition,tamoxifen hasbeenreportedtobeeffective for arthralgiathatisrefractorytoNSAIDs.3

Thereportinquestionrecallstheimportanceof consid-eringPDPasapossiblediagnosisindermatologyandshows thatestablishingadiagnosisofPDPcanbeextremely chal-lengingevenfor the moreexperienced physicians,mainly duetotherarityofthedisease.

100 HonórioMLPetal.

Figure3 Fingersandtoesshowingvolumeincreaseanddigitalclubbing.

Figure4 Benignhypertrophicperiostealreactioninmetaphysesandepiphysesofthefemur,tibia,andfibulabilaterally,with

enlargementofthebonesduetohyperostosis.Densificationandincreaseofthethicknesssoftpartsadjacenttotheknee,especially intheanteriorandlateralfaces.

Financial

support

Nonedeclared.

Authors’

contribution

Mônica Larissa Padilha Honório: Composition of the manuscript;intellectual participation in thepropaedeutic and/or therapeutic conduct of the studied cased; critical reviewoftheliterature;criticalreviewofthemanuscript.

Guilherme Holanda Bezerra: Composition of the manuscript;criticalreviewoftheliterature.

Vivianne Lira da Câmara Costa: Approval of the final versionofthemanuscript;participationinthestudy orien-tation;criticalreviewofthemanuscript.

Conflicts

of

interest

Nonedeclared.

References

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Completeformofpachydermoperiostosis 101

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