Odonto-onycho-dermal dysplasia syndrome

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  • In conclusion, we recommend a detailed familyhistory and a possible role for genetic testing if thehistory and findings from physical examination sug-gest a familial cancer syndrome.

    Seth B. Forman, MD,a,b,c William B. Tyler, MD,b,c

    R. Patrick Dorion, MD,c and Dirk M. Elston,MDa,b,c

    Departments of Dermatology,a Dermatopathology,b

    and Pathology,c Geisinger Medical Center, Dan-ville, Pennsylvania

    Funding sources: None.

    Conflicts of interest: None declared.

    732 LettersCorrespondence to: Seth B. Forman, MD, GeisingerMedical Center, Dermatology/Dermatopathology,100 N Academy Dr, MC 14-06, Danville, PA17822

    E-mail: sethbforman@gmail.com


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    4. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of

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    Odonto-onycho-dermal dysplasia syndrome

    To the Editor: Odonto-onycho-dermal dysplasiasyndrome (OMIM #257980), first reported in 1983,represents a rare type of ectodermal dysplasia, withonly 10 reported cases worldwide.1-4 All 10 reportedcases noted oligodontia and palmoplantar kerato-derma. Nine of 10 patients had hyperhidrosis, whileeight patients demonstrated dystrophic nails1-4 andseven displayed erythematous, reticulated, atrophicpatches on the malar area.1-3 Only two patients hadfollicular hyperkeratosis.4

    A 26-year-old male, originally from Lebanon,Ohio, presented with a lifelong history of an asymp-tomatic, unremitting facial eruption, fingernail andtoenail changes, thick scaling on his palms and soles,mild hyperhidrosis of the palms and soles, andwidely spaced conical teeth. He never possessed anypermanent teeth. There was no family history ofany such skin problems and he had not attemptedany therapy other than undergoing more than$35,000 in cosmetic dentistry procedures. Physicalexamination revealed several fairly well-defined,erythematous, telangiectatic, reticulated, atrophicplaques on the nose (Fig 1, A) and cheeks (Fig 1,B). Mild hyperkeratosis diffusely covered his palmsand soles with extension of mild erythema to thedorsal aspect of the hands and feet. The nails werevariably affected, demonstrating spooning, splitting,and onycholysis with periungual fissuring (Fig 2)and longitudinal ridging. He had mild follicularhyperkeratosis on the forearms. A dental examinationrevealed fewconical shaped teeth butmostly artificialdentition. No biopsies were performed. The patientbegan application of triamcinolone acetonide 0.025%to his facial eruption and 40% urea to his palms andsoles.

    Documented predominantly in the genetics liter-ature, odonto-onycho-dermal dysplasia syndromerepresents a rare type of ectodermal dysplasia withlikely autosomal recessive inheritance. Eight of the


    Fig 1. A, The characteristic eruption over the nose dem-onstrates fairly well-defined, erythematous, reticulated,telangiectatic, mildly atrophic plaques. B, The same char-acteristic eruption over the cheeks demonstrates fairlywell-defined, erythematous, reticulated, telangiectatic,mildly atrophic plaques.

    J AM ACAD DERMATOLOCTOBER 2007previously reported patients were Lebanese, one

  • details therapy, but a reasonable approach to treat-ment includes topical keratolytic agents along withwarm water soaks and pumice stone debridementfor the hyperkeratosis. It is unclear if topical corti-costeroids improve the facial eruption associatedwith this syndrome. More than 200 variants of ecto-dermal dysplasias exist; the unique combination ofclinical findings (especially the presence of the malareruption) allows the clinician to correctly classify thistype.

    Brian B. Adams, MD, MPHFig 2. The nails demonstrate spooning, splitting, and


    Letters 733was Dutch,3 and one was from Wisconsin2; eightwere males and two were females. The characteristicerythematous, reticulated, telangiectatic, atrophicmalar eruption, combined with the presence ofdystrophic nails, palmoplantar hyperkeratosis, con-ical widely spaced teeth with a lack of permanentteeth, and hyperhidrosis typify this type of ectoder-mal dysplasia. The variable findings of dystrophicnails include subungual hyperkeratosis, onycholysis,central grooves, longitudinal ridging, and a thick-ened nail plate. Teeth abnormalities include small,widely spaced peg teeth, hypodontia, and con-genital absence of most and sometimes all secondaryteeth. Three biopsies of the hyperkeratotic areas inthe previously reported patients demonstrated or-thohyperkeratosis, mild acanthosis, and irregularhypergranulosis,1,3 while biopsies of two patientswith the characteristic facial eruption revealedmildlyatrophic epidermis and basophilic degeneration ofthe collagen in the upper dermis.1

    The genetic defect of odonto-onycho-dermal dys-plasia syndrome is unknown. None of the reports

    onycholysis; there is also periungual fissuring. Not all nailspossessed these changes; some appeared completelynormal.Department of Dermatology, University of Cincin-nati, and the Director of Section of Dermatology,Veterans Affairs Medical Center, Cincinnati,Ohio

    Funding source: None.

    Conflicts of interest: None declared.

    Correspondence to: Brian B. Adams, MD, MPH,Department of Dermatology, University of Cin-cinnati, PO Box 670592, Cincinnati, OH45267-0592

    E-mail: adamsbb@email.uc.edu


    1. Fadhil M, Ghabra TA, Deeb M, DerKaloustian VM. Odontoony-

    chodermal dysplasia: a previously apparently undescribed

    ectodermal dysplasia. Am J Med Genet 1983;14:35-46.

    2. Zirbel GM, Ruttum MS, Post AC, Esterly NB. Odonto-onycho-

    dermal dysplasia. Br J Dermatol 1995;133:797-800.

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    dermal dysplasia? Am J Med Genet 1995;59:242-4.

    4. Megarbane H, Haddad M, Delague V, Renoux J, Boehm N,

    Megarbane A. Further delineation of the odonto-onycho-

    dermal dysplasia syndrome. Am J Med Genet 2004;129A:193-7.


    Odonto-onycho-dermal dysplasia syndromeREFERENCES