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

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  • Pediatric Dermatology Vol. 9 No. I 52-56

    Oral-Facial-Digital Type 1 Syndrome ofPapillon-Leage and Psaume

    Margarita Larralde de Luna, M.D., Maria Luisa Raspa, M.D., andJesiis Ibargoyen, M.D.

    Section of Pediatric Dermatology, Hospital Jose Maria Ramos Mejia, Buenos Aires, Argentina

    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.

    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).

    CASE REPORT

    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.

    Her parents and two sisters (ages 2 and 5 yrs) arewithout simiiar or related pathology.

    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).

    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.

    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.

    Histologic examination of a skin biopsy speci-

    Address correspondence to Margarita Larralde de Luna,M.D., Acevedo 1070, (1828)Banfield, Buenos Aires, Republicof Argentine.

    52

  • de Luna et al: Oral-Facial-Digital Type 1 Syndrome 53

    Figure 1. At 20 days of age, numerous miliun cys:s onthe face, and cleft tongue.

    Al' r*

    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.

    Figure 2. Diffuse alopecia and sparse hair.

    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.

    DISCUSSIONOral-facial-digital syndrome is a rare and complexcondition, seven types of which are currently rec-

    Figure 4. Cleft palate and lobed, bifid tongue.

    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).

  • 54 Pediatric Dermatology Vol. 9 No. 1 March 1992

    Figure 5. Bilateral brachydactyly.

    Figure 6. Histopathotogy of a milium cyst.

    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.

    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).

    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

    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.

    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).

    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).

    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).

    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).

    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).

    Once the diagnosis of OFDS 1 is made, it is nee-

  • de Luna et al: Oral-Faciai-Digital Type 1 Syndrome 55

    TABLE 1, Comparative Findings in the Orai-Facial-Digital Syndromes

    Findings

    Oralanomalies

    Facialanomalies

    Handanomaiies

    Footanomaiies

    Cerebralanomalies

    Miscel-laneousanomalies

    Inheritance

    OFDS 1

    Highly arched orcieft palate;dentilanomalies:tongue clefts;frenula

    Telecanthus orhypertelorism;median cleftlip; alarhypoplasia

    Clinodactyly;braehydactyly;syedactyiy

    Preaxialpolydactyly.usuallyunilateral

    Corpus caliosumagenesis;porencephaiy

    Nonscarringalopecia: skinmilia; wiry.dry hair;adult-onsetpolycystickidneys

    X-linked'dominant ornew mutation

    OFDS 2(Mohrsyndrome)Highly arched or

    cleft palate;frenula;tonguenodules;tongue clefts

    Median cleft lip;broad nosewith bifid tip;telecanthus orhypertelorism

    Clinodactyly;brachydactyly;syndactyly;preaxial orpostaxiaipolydactyly

    Preaxialpolydactyly(usuallybilateral)

    Porencephaiy;hydrocephaly

    Autosomalrecessive

    OFDS 3(Sugarmansyndrome)Cleft uvula;

    tonguenodules; clefltongue; smallteeth

    Hypertelorism;low-set ears;bulbous nose

    Postaxiaipolydactyly

    Postaxiaipolydactyiy

    See-sawwinking;myoclonicjerks

    Short sternum;hyperconvexnails

    Autosomalrecessive

    OFDS 4{Baraitser burnsyndrome)Highly arched or

    cleft palate;lobed tongue;tonguenodules;frenula

    Hypertelorism;epicanthaifolds;micrognathia;low-set ears

    PreaxiaJ orposiaxialpolydactyly;brachydactyly;clinodactyly;syndactyly

    PreaxiaJ orpostaxiaipolydactyly;syndactyly

    Porencephaiy;cerebralatrophy

    Tibial dyspiasia;pectusexcavatum;short stature

    .\utosomalrecessive

    OFDS 5(Thurstonsyndrome)Frenula

    Median cleft lip

    Postaxia!polydactyly

    Postaxiaipolydactyly

    Autosoma!recessive

    OFDS 6(Varadisyndrome)Highly arched or

    cleft palate;lobed tongue;frenula

    Hypertelorism;median orunilateral cleftlip; broadnasal tip

    Centralpolydactyly;preaxia! orpos