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Odontoonychodysplasia with alopecia: A new pure ectodermal dysplasia with probable autosomal recessive inheritance

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  • American Journal of Medical Genetics 20:197-202 (1985)

    Odontoonychodysplasia With Alopecia: A New Pure Ectodermal Dysplasia With Probable Autosomal Recessive Inheritance

    Marta Pinheiro, Newton Freire-Maia, and Thomaz R. Gollop

    Department of Genetics, Federal University of Parana, Curitiba, Brazil (M. P., N. F. -M.) and Department of Biology, University of SBo Paulo, SBo Paulo, Brazil (I R. G.)

    We report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations, and other findings. This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia.

    Key words ectodermal dysplasia, dysplasia, autosomal recessive inheritance, trichodysplasia, dental defects, onychodystrophy , odontoonychodysplasia, alopecia


    Ectodermal dy splasias form a large nosologic group that includes both pure dysplasias, and dysplasia/malformation syndromes. Conditions of group A have been subdivided into 11 subgroups [Freire-Maia, 1971, 19771; Freire-Maia and Pinheiro [1984] reviewed 117 conditions belonging to this group. We describe here two sisters with a previously fully unreported pure ectodermal dysplasia belonging to the tricho- odonto-onychial subgroup and probably due to an autosomal recessive mechanism of inheritance.


    The condition is present in two women from the State of Siio Paulo, Brazil; they are the only daughters of a gravida 3, para 2, abortus (spontaneous) 1 mother. The parents are Caucasian of Portuguese origin and probably consanguineous, although no degree of consanguinity could be determined between them. The pregnancies and births were normal. The abortion occurred at the second pregnancy.

    Received for publication April 28, 1984

    Address reprint requests to Dr. Marta Pinheiro, Depto. de GenCtica, Caixa Postal 19071, 8oooO Curitiba, Parana, Brazil.

    0 1985 Alan R. Liss, Inc.

  • 198 Pinheiro, Freire-Maia, and %!lop

    Proposita She was born on January 17, 1959, the second daughter from the third pregnancy

    (Figs. la,b, 2a,b, and 3a). Birth weight was 2500 g and length 49 cm. At birth, she had sparse scalp hair and mild palmoplantar xeroderma.

    Examination at 22 years showed: height 165 cm; weight 56.0 kg; inner intercan- thal distance 2.9 cm; outer intercanthal distance 9.0 cm; interpupillary distance 4.8 cm. All these data are normal [for the last three, see Nunesmaia, 19761. She had almost total alopecia; sparse, thin, brittle, and slow-growing hair at the occipital and temporal regions; blond, scant eyebrows and lashes; absent axillary and pubic hair; fragile and brittle fingernails with a subungual corneal layer; thick and brittle toenails also with a subungual corneal layer; hypodontia, microdontia, widely spaced teeth and hypoplastic enamel; sparse cafe-au-lait spots on back; irregular outlines of areolae; right nipple with hypertrophied Montgomery glands; supernumerary left nipple; mild palmoplantar keratosis; bilateral syndactyly of toes 2 and 3; discrete left esotropia; anteverted auricles and flat feet.

    The proposita stated that three of her permanent teeth had been removed (at the time of the examination, she had 21 permanent teeth; thus, we infer that eight permanent teeth were not formed). She had had recurrent atrophic rhinitis and external otitis and surgery for an uterine fibroma weighing 500 g.

    Dermatoglyphics are as follows. Right hand-Ulnar loop in the interdigital IV region; no thenar pattern; hypothenar pattern AU/AC; absent triradius c; Walker index 32.72%; a-6 distance 15 lines; atd angle 40"; TRC 93; ulnar loops on digits I , 111, IV, and V; simple whorl at digit 11. Left hand-no pattern in interdigital regions; no thenar pattern; hypothenar pattern AU/AC; absent triradius c; Walker index 32.71 % ; a-6 distance 15 lines; atd angle 30"; TRC impossible to obtain; ulnar loops on digits I , IV and V; simple whorls on digits I1 and 111.

    Normal findings (verified or stated by the proposita and/or her mother): deci- duous teeth, hearing, genitalia, eyes (excepting for esotropia), sweating, neurological status, intelligence, growth, locomotor apparatus, general health, and chromosomes with G-banding technique.

    The proposita married in December 1983 and had a 4 month pregnancy in April 1984, when she was found to have uterine anteversion.

    Second patient She was born on June 16, 1956, the first daughter from the first pregnancy

    (Figs. lc,d, 2c,d, and 3b). Birth weight was 2500g and length 49 cm. At birth, she had sparse scalp hair and mild palmoplantar xeroderma.

    Examination at 26 years showed: height 163 cm; weight 65.0 kg; inner intercan- thal distance 2.8 cm; outer intercanthal distance 8.7 cm; interpupillary distance 5.8 cm. All these data are normal. She presented hair, teeth and nail alteratiods, palmo- plantar keratosis, toe syndactyly, and flat feet similar to those of the proposita. She also presented irregular areolae (the right areola was larger than the left one), both nipples with hypertrophied Montgomery glands, and one small cafe-au-lait spot on right leg.

    She referred to removal of "the molar teeth" (sic) and to having had recurrent external otitis, atrophic rhinitis, cysts of both ovaries, and uterine retroversion. At the time of the examination, she had 19 permanent teeth.

  • Odontoonychodysplasia With Alopecia 199

  • 200 Pinheiro, Freire-Maia, and Gollop

    Fig. 2. a. of the proposita; c. and d. corresponding photos of the proposita's sister.

    Proposita's teeth. The apparently normal upper incisors are capped; b. orthopantornogram

    Fig. 3. a. Onychodystrophy of the proposita; b. onychodystrophy and cutaneous syndactyly of the proposita's sister (the nails are painted).

    Dermatoglyphics were identical to those of the proposita except for the follow- ing. Right hand-Walker index 30.00%; a-b distance 30 lines; TRC 80; ulnar loops on digits I , I1 and 111; simple whorls on digits IV and V. Left hand-Walker index 25.55%; atd angle 40"; a-b distance 22 lines; ulnar loops on digits I, I1 and 111; simple whorls on digits IV and V.

    Normal findings: similar to those of her sister; no esotropia was verified. The patient was married and had a pregnancy that ended in a spontaneous


  • Odontoonychodysplasia With Alopecia 201

    DISCUSSION Differential diagnosis included 29 conditions belonging to the tricho-odonto-

    onychial subgroup of group A of ectodermal dysplasias. For a review of 18 of them, see Pinheiro et a1 [ 19811. The remaining 11 conditions are: trichodentoosseous (TDO) syndrome I1 [Leisti and Sjoblom, 19781, trichodentoosseous (TDO) syndrome I11 [Shapiro et al, 19831, trichoodontoonychial dysplasia [Pinheiro et al, 19831, Schinzel- Giedion syndrome [Kelley et al, 19821, growth retardation-alopecia-pseudoanodontia- optic atrophy (GAPO) [referred to by Pinheiro et al, 1983, as dwarfism-alopecia- pseudoanodontia-cutis laxa] [Tipton and Gorlin, 1984; Gagliardi et al, 19831, ectoder- ma1 dysplasia with syndactyly [Wiedemann et al, 19781, osteosclerosis and ectodermal dysplasia [CBtC and Katsantoni, 19821, dermoodontody splasia [Pinheiro and Freire- Maia, 19831, trichoodontoonychodysplasia with pili torti [Carey, 19821, mesomelic dwarfism-skeletal abnormalities-ectodermal dysplasia [Brunoni et al, 19841, and ec- todermal dysplasia syndrome with tetramelic deficiencies [Schinzel and Klingenberg , 19811. The present condition is clearly different from the other 29 of the same subgroup. We suggest for it the name odontoonychodysplasia with alopecia.

    It is probable that esotropia, seen only in the proposita, is not a sign of the condition, since her affected sister does not show it and their normal mother has it. Syndactyly of toes 2 and 3 (not present in the parents) also may not be a sign of this condition since it is a relatively common trait in normal persons.

    Considering that both sibs are affected and that there is probably distant consan- guinity between their parents, the hypothesis of an autosomal recessive gene is plausible. Consanguineous marriages are relatively rare events in the state of S5o Paulo, Brazil.

    This condition was previously described in abstract form by Pinheiro and Freire- Maia [1981].


    Our first thanks are due to the two affected women, whose cooperation made possible this investigation. We are grateful to Drs. 0. Frota-Pessoa for calling our attention to the proposita, NCria A. Maia for the analysis of the dermatoglyphics, Angela M. Vianna Morgante for the analysis of the chromosomes, and to Miss Irene Sedoslu for expert secretarial assistance.

    This work was supported by grants from the Conselho Nacional de Desenvol- vimento Cientifico e Tecnol6gico (CNPq, Brazil) and to WHO (Geneva). The two first authors are research fellows of CNPq.


    Brunoni D, Lederman H, Ferrari S, Farah LMS, Andrade JAD, Meloni VA (1984): Mesomelic

    Carey JC (1982): personal communication. CbtC GB, Katsantoni A (1982): Osteosclerosis and ectodermal dysplasia. In Papadatos, CJ, Bartsocas,

    Freire-Maia N (1971): Ectodermal dysplasias. Hum Hered 21:309-312. Freire-Maia N (1977): Ectodermal dysplasias revisited. Acta Genet Med Gemellol 26: 121-131. Freire-Maia N, Pinheiro M (1984): Ectodermal Dysplasias-A Clinical and Genetic Study. New

    dwarfism, skeletal abnormalities, ectodermal dysplasia. J Clin Dysmorph (in press).

    CS (eds): Skeletal Dysplasias. New York: Alan R. Liss, Inc., pp 161-162.

    York: Alan R. Liss Inc.

  • 202 Pinheiro, Freire-Maia, and (hllop

    Gagliardi ART, Prattesi R, Yazzle C, Varella MG, Tajara E (1983): Displasia ectodCrmica associada a retardo de crescimento. C i h c Cult 35(suppl):676.

    Kelley RI, Zackai EH, Charney EB (1982): Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: The Schinzel-Giedion syndrome. J Pediatr 100:943-946.

    Leisti J, Sjoblom SM (1978): A new type of autosomal dominant tricho-dento-osseous syndrome. Proceedings of Birth Defects Conference (abstr.)XI:58 [apud Shapiro et al, 19831.

    Nunesmaia HGS (1976): Estudo Antropometrico da RegiZo Ocular Externa em Adultos de Diferentes Grupos Etnicos e em Portadoras de Sindrome de Turner. MSc thesis, University of SLo Paulo, SBo Paulo, Brazil.

    Pinheiro M, Freire-Maia N (1981): Odonto-onicodisplasia com alopecia: dois casos em uma irmandade. Ci&nc Cult 33(suppl):696.

    Pinheiro M, Pereira LC, Freire-Maia N (1981): A previously undescribed condition: Tricho-odonto- onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dys- plasias. Br J Dermatol 105:371-382.

    Pinheiro M, Freire-Maia N (1983): Dermoodontodysplasia: An eleven-member, four generation pedi- gree with an apparently hitherto undescribed pure ectodermal dysplasia. Clin Genet 2458-68.

    Pinheiro M, Freire-Maia N, Roth AJ (1983): Trichoodontoonychial dysplasia-A new meso-ectodermal dysplasia. Am J Med Genet 15:67-70. (See also erratum and update in Am J Med Genet 16: 143- 144, 1983).

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    ogeneity or clinical variability. Am J Med Genet 16:225-236. Tipton RE, Gorlin Iu (1984): Growth retardation, alopecia, pseudo-anodontia and optic atrophy-The

    GAP0 syndrome. Report of a case and review of the literature. Am J Med Genet 19:209-216. Wiedemann HR, Grosse FR, Dibbern H (1978): Caracteristicas das Sindromes em Pediatria. Atlas de

    Diagnostic0 Diferencial. Transl. Dr. Horst Furstenau. S6o Paulo: Editora Manole. (A second Geman edition was published in 1982, Das characteristische Syndrome. Blickdiagnose von Syndromen. Stuttgart: F.K. Schattauer Verlag).