Oral-Facial-Digital Type 1 Syndrome of Papillon-Léage and Psaume

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<ul><li><p>Pediatric Dermatology Vol. 9 No. I 52-56</p><p>Oral-Facial-Digital Type 1 Syndrome ofPapillon-Leage and Psaume</p><p>Margarita Larralde de Luna, M.D., Maria Luisa Raspa, M.D., andJesiis Ibargoyen, M.D.</p><p>Section of Pediatric Dermatology, Hospital Jose Maria Ramos Mejia, Buenos Aires, Argentina</p><p>Abstract: A female infant was ciassified as having orai-facial-digitalsyndrome (OFOS) type 1, with oral (cleft palate, bifid uvula, lingual cleft,numerous hypertrophic frenula), facial (numerous milia on face, scalp,and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar carti-lage; micrognathia), and digital (bilateral brachydactyly of hands) symp-toms. She aiso had diffuse, nonscarring alopecia with wiry, dry hair. Re-sults of roentgenographic and ultrasound studies were normal. At herpresent age of 11 months, her psychomotor development is appropriatefor her age.</p><p>Papillon-Leage and Psaume (1,2) were first to de-scribe the oral-facial-digital syndrome type 1(OFDS 1) in 1954, as a rare hereditary conditioncharacterized by certain oral, facial, and digital mal-formations. The dermatologic findings are very im-portant because of their usefulness in making thediagnosis (3). Less often, internal manifestationsare present in older patients (4-6). The expressionof the syndrome has great variabiiity, and at presentseven types or variants of OFDS are recognized (7).</p><p>CASE REPORT</p><p>This patient was first seen by us at age 20 days,when she had oral, facial, and digital manifestationscharacteristic of OFDS 1. She was the product of a35-week pregnancy and normal delivery. Birthweight was 2330 g. She had required special carebecause of feeding difficulties due to her cleft pal-ate. She later had hepatitis at 7 months and varicellaat 9 months, both with normal evolution.</p><p>Her parents and two sisters (ages 2 and 5 yrs) arewithout simiiar or related pathology.</p><p>When recently seen at age 11 months, her derma-tologic manifestations were milia that involute,leaving pitted scars on her face (Fig. 1), scalp,and ears; and diffuse alopecia with rough, dry hair(Fig. 2).</p><p>The other manifestations of OFDS 1 included thefacial features of frontal bossing, hypertelorism,alar hypoplasia, nasal cleft, and micrognathia (Fig.3). Her oral symptoms were cleft soft palate (Fig.4), cleft uvula, lobed and bifid tongue, and numer-ous hypertrophic frenula of the lips and tongue. Shealso had bilateral brachydactyly (Fig. 5). The rest ofher physical examination was normal. Neurologicdevelopment was appropriate for her age.</p><p>Results of radiologic examinations and roentgen-ograms of the hands and feet were within normallimits, as were those of ultrasound scans of the ab-domen and brain.</p><p>Histologic examination of a skin biopsy speci-</p><p>Address correspondence to Margarita Larralde de Luna,M.D., Acevedo 1070, (1828)Banfield, Buenos Aires, Republicof Argentine.</p><p>52</p></li><li><p>de Luna et al: Oral-Facial-Digital Type 1 Syndrome 53</p><p>Figure 1. At 20 days of age, numerous miliun cys:s onthe face, and cleft tongue.</p><p>Al' r*</p><p>Figure 3. At 10 months of age she had diffuse alope-cia, frontal bossing, hypertelorism, alar hypoplasia,and micrognathia. Involution of milium cysts left pit-ted soars.</p><p>Figure 2. Diffuse alopecia and sparse hair.</p><p>men (Fig. 6) showed a small cyst situated in the re-ticular dermis. it was lined by a stratified epitheliuma few cell layers thick and contains concentriclamellae of keratin.</p><p>DISCUSSIONOral-facial-digital syndrome is a rare and complexcondition, seven types of which are currently rec-</p><p>Figure 4. Cleft palate and lobed, bifid tongue.</p><p>ognized (Table 1). Its estimated incidence is 1 per45,000 live births, and it occurs in approximately1.5% of patients with cleft palate and/or cleft lip(3,8). The genetic pattern is X-linked dominant in-heritance that is lethal for male fetuses, althotighnew mutations are mentioned in the literature (9).</p></li><li><p>54 Pediatric Dermatology Vol. 9 No. 1 March 1992</p><p>Figure 5. Bilateral brachydactyly.</p><p>Figure 6. Histopathotogy of a milium cyst.</p><p>The most important dermatologic findings aremilium cysts on the face, scalp, auricles, and dorsaof the hands. These lesions tend to disappear slowlyand spontaneously, leaving pitted scars. The skin ofthe scalp and face is covered by fine scales and hasa dry appearance. There is diffuse alopecia of thescaip, with less hair over skull prominences. Insome cases alopecia has a linear tendency, follow-ing Blaschko's lines (10). The hair is rough, dry, ius-teriess, and brittle. Numerous broken hairs are seenjust above the scalp line. The hairs vary in diame-ter, but have no specific abnormalities. The nailsappear normal. Sweating is normal.</p><p>Histopathologic study shows small keratinizingcysts consistent with milia. There is a marked de-crease or absence of sebaceous glands, which, inaddition to the diminution of the hair follicles andthe milium cysts, may represent imperfect attemptsat hair follicle formation (3).</p><p>A highly significant relationship exists betweenthe anomalies of dermatoglyphs of the fmgers inthese patients compared with the normal pattern.Four characteristic patterns were described in five</p><p>generations of the same family affected with OFDS1 (11) (Fig. 7); the arch had no triradius; a tentedarch formed a triradius in its central core; an openloop was oriented to either the ulnar or radial sidewith a triradius and a core; and a whorl had twotriradii at a distance from its central core. Neverthe-less, the fingerprints may be normal.</p><p>The oral anomalies are the most constant and ob-vious, consisting of lobed and cleft tongue, mediancleft of the upper lip. highly arched or cleft palate,numerous hypertrophic lingual and lip frenula.missing lateral incisors, large alveolar ridges, incor-rect dental position, and tendency to caries (12-15).Facial abnormalities usually observed are broadnose (hypertelorism, dystopia canthorum), alar hy-poplasia (short philtrum), and frontal bossing.There is often an increment of the nasion-sella-basion angle (12-16).</p><p>The most common digital abnormalities are pre-axial polydactyly (usually unilateral), syndactyly(either osseus or by tegumentary binding), brachy-dactyly, and clinodactyly (13-16). Broad and dupli-cated medial cuneiform bones can also occur. Ra-diologically, irregular reticular zones are visualizedin the short tubular bones due to irregular mineral-ization of the hand and foot phalanges (17).</p><p>The external abnormalities of OFDS 1 have beenstudied exhaustively, but the internal associationsare not well known. Renal involvement is a latemanifestation, so does not appear in the early diag-nosis of the syndrome (4). It consists of a form ofpolycystic disease that may start in the first decadebut appears more commonly in adulthood(4.6,18,19). It results in terminal renal failure, oftenrequiring dialysis and kidney transplantation. Thepathogenesis of the cysts is still unknown. Some-times there is associated liver and pancreatic poly-cystosis (4,5,20).</p><p>Intelligence quotients are below normal in about50% of patients. The essential retardation is a char-acteristic of OFDS 1, but is further complicated bydifficulties in communication resulting from hearingdefects, cleft palate that impedes correct phonation,and chronic otitis (20,21). Syndromes with more ev-ident morphologic alterations are those associatedwith more accentuated mental retardation (11).</p><p>Anomalies of the central nervous system arepresent in at least 13% of patients. These are hydro-cephaly, hydranencephaly, porencephalic cyst,agenesis or partial absence of the corpus caliosum,and clinical trembling (3,6,22). Renal polycystosis isassociated with agenesis of the corpus caliosum (6).</p><p>Once the diagnosis of OFDS 1 is made, it is nee-</p></li><li><p>de Luna et al: Oral-Faciai-Digital Type 1 Syndrome 55</p><p>TABLE 1, Comparative Findings in the Orai-Facial-Digital Syndromes</p><p>Findings</p><p>Oralanomalies</p><p>Facialanomalies</p><p>Handanomaiies</p><p>Footanomaiies</p><p>Cerebralanomalies</p><p>Miscel-laneousanomalies</p><p>Inheritance</p><p>OFDS 1</p><p>Highly arched orcieft palate;dentilanomalies:tongue clefts;frenula</p><p>Telecanthus orhypertelorism;median cleftlip; alarhypoplasia</p><p>Clinodactyly;braehydactyly;syedactyiy</p><p>Preaxialpolydactyly.usuallyunilateral</p><p>Corpus caliosumagenesis;porencephaiy</p><p>Nonscarringalopecia: skinmilia; wiry.dry hair;adult-onsetpolycystickidneys</p><p>X-linked'dominant ornew mutation</p><p>OFDS 2(Mohrsyndrome)Highly arched or</p><p>cleft palate;frenula;tonguenodules;tongue clefts</p><p>Median cleft lip;broad nosewith bifid tip;telecanthus orhypertelorism</p><p>Clinodactyly;brachydactyly;syndactyly;preaxial orpostaxiaipolydactyly</p><p>Preaxialpolydactyly(usuallybilateral)</p><p>Porencephaiy;hydrocephaly</p><p>Autosomalrecessive</p><p>OFDS 3(Sugarmansyndrome)Cleft uvula;</p><p>tonguenodules; clefltongue; smallteeth</p><p>Hypertelorism;low-set ears;bulbous nose</p><p>Postaxiaipolydactyly</p><p>Postaxiaipolydactyiy</p><p>See-sawwinking;myoclonicjerks</p><p>Short sternum;hyperconvexnails</p><p>Autosomalrecessive</p><p>OFDS 4{Baraitser burnsyndrome)Highly arched or</p><p>cleft palate;lobed tongue;tonguenodules;frenula</p><p>Hypertelorism;epicanthaifolds;micrognathia;low-set ears</p><p>PreaxiaJ orposiaxialpolydactyly;brachydactyly;clinodactyly;syndactyly</p><p>PreaxiaJ orpostaxiaipolydactyly;syndactyly</p><p>Porencephaiy;cerebralatrophy</p><p>Tibial dyspiasia;pectusexcavatum;short stature</p><p>.\utosomalrecessive</p><p>OFDS 5(Thurstonsyndrome)Frenula</p><p>Median cleft lip</p><p>Postaxia!polydactyly</p><p>Postaxiaipolydactyly</p><p>Autosoma!recessive</p><p>OFDS 6(Varadisyndrome)Highly arched or</p><p>cleft palate;lobed tongue;frenula</p><p>Hypertelorism;median orunilateral cleftlip; broadnasal tip</p><p>Centralpolydactyly;preaxia! orpostaxiaipolydactyly;brachydactyly;clinodactyly;syndactyiy</p><p>Preaxialpoiydactyly</p><p>Cerebellaranomalies;Dandy-Walkeranomaly</p><p>Autosomalrecessive</p><p>OFDS 7(Whelansyndrome)Highly arched or</p><p>deft palate;finenula;tonguenodules</p><p>Hypertelorism;ufiiiateral cieftlip; facialasymmetry</p><p>Ciinodactyly</p><p>Coarse hair;congenitalhydro-nephrosis;preauricularskin tag</p><p>Autosomal orX-Iinkeddominant</p><p>Modified from reference 7,</p><p>Figure 7. Characteristic patterns of finger dermato-giyphs: (A) Arch, (B) Tented arch, (c) Open loop, and(D) Whorl. (From reference 11.)</p><p>essary to correct the oral anomalies surgically (pal-ate and/or lip fissures, muitipie frenula) to allowcorrect feeding and oral communication. Orthodon-tic correction of the dental anomalies at an early ageis also recommended. Periodic analysis of renalfunction is of extreme importance so as to detectthe development of polycystic disease and to searchfor the more unusual liver and pancreatic diseases.</p><p>We complete the study of these patients by fol-lowing their psychomotor and intellectual develop-ment, which can be affected by the central nervoussystem anomalies.</p><p>SUMMARYWe want to stress the important role of the derma-tologist in arriving at the early diagnosis of OFDSthrough careful cutaneous and mucotis raembratieexamination. Early diagnosis permits adequate ge-</p></li><li><p>56 Pediatdc Dermatology Vol. 9 No. 1 March 1992</p><p>netic counseling. We emphasize the early surgicalcorrection of soft tissue anomalies and the need forperiodic follow-up to detect internal manifestationsin adulthood.</p><p>REFERENCES</p><p>1. Papillon-Leage. Psaume I. Une malformation hered-itaire de la muqueuse buccale, brides et freins anor-maux: generalites. Rev Stomatol 1954;55:209.</p><p>2. Papillon-Leage, Psaume J. Dysmorphie des freinsbuccaux. Actualites Odontol Stomatol 1954;25:7-26.</p><p>3. Solomon LM, Fretzin D, Pnizansky S. Pilosebaceusdysplasia in the oral-facial-digital syndrome. ArchDennatol ]970;102:598-602.</p><p>4. Harrod MJE, Stokes J. Peede LF, Goldstein JL.Polycystic kidney disease in a patient with the oral-facial-digital syndrome type 1. Clin Genet 1976:9:183-186.</p><p>5. Tucker CC, Finley SC, Tucker ES, Finley WH. Oral-facial-digital syndrome with polycystic kidneys andliver: pathological and cytogenetic studies. J MedGenet 1966;3:145-147.</p><p>6. Connacher AA, Forsyth CC, Stewart WK. Orofacio-digital syndrome type 1 associated with polycystickidneys and agenesis of the corpus caliosum. J MedGenet !987;24:116-122.</p><p>7. Toriello HV. Heterogeneity and variability in theoral-facial-digital syndromes. Am J Med Genet!988;4(suppl): 149-159.</p><p>8. Wahrman J, Berant M, Jacobs J, Aviad J, Ben HurN. The oral-facial-digita! syndrome: a male-lethalcondition in a boy with 47/XXY chromosomes. Pedi-atrics 1966;37:812-821.</p><p>9. Gorlin RJ, Psaume J. Orodigitofacial dysostosisanew syndrome. J Pediatr 1962;61:52O-530.</p><p>10. Happl E, Fuhrmann-Rieger A, Furhmann W. Wieverlangen die blaschkolinien am behaarten kopf?Hautarzt 1984;35(7):366-369.</p><p>11. Doege TC, Campbell PD, Bryant JS, Thuline H,Buckley W. Mental retardation and dermatoglyphicsin a family with the oral-facial-digital syndrome. AmJ Dis Child 1968;! 16:615-622.</p><p>12. Gracia R, Prieto G, Perez Rodriguez J, Lledo G, Her-raiz Jl, Jover P. Syndrome oro-facio-digital I (OFD I)en varon. Ann Esp Pediatra 1976;9:79-84.</p><p>13. Rimoin DL, Edgerton MT. Genetic and clinical het-erogeneity in the oral-facial-dtgital syndromes. J Pe-diatr 71(l):94-102.</p><p>14. Baraitser M. The orofaciodigital (OFD) syndromes. JMed Genet 1986;23:1)6-119.</p><p>15. Pedragosa R. Vidal J, Pelegri A, Fort J. Sindromeoro-faciai-digital. Med Cutan Ibero Lat Am 1985;13:197-200.</p><p>16. Whelan DT, Feldman W, Dost I. The oro-facial-digital syndrome. Clin Genet 1975:8:205-212.</p><p>17. Anoeren G. Arvidson B. Gustavson KH, Jorulf H,Carlsson G. Oro-facio-digital syndromes I and II: ra-diological methods for diagnosis and the clinical vari-ations. Clin Genet 1984;26:178-186.</p><p>18. Stapleton FB, Bernstein J, Koh G, Roy S III, WilroyS. Cystic kidneys in a patient with oral-facial-digitalsyndrome type I. Am J Kidney Dis 1982;1(5):288-293.</p><p>19. Donnai D, Kerzin-Storrar L, Harris R. Familial oro-faciodigital syndrome type 1 presenting as adult poly-cystic kidney disease. J Med Genet 1987;24:84-87.</p><p>20. Doege TC, Thuline HC, Priest JH, Norby DE, Bry-an! JS. Studies of a family with the oral-facial-digitalsyndrome. N Engl J Med 1964;274:1073-1080.</p><p>21. Ruess AL, Pnizansky S, Lis EF. Patan K. The oral-facial-digital syndrome: a multiple congenital condi-tion of females with associated chromosomal abnor-maiities. Pediatrics 1962;29:985-995.</p><p>22. Townes PL, Wood BP, McDonald JV. Further heter-ogeneity of the oral-facial-digital syndromes. Am JDis Child 1976:130:548-554.</p></li></ul>

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