Hypodontia and nail dysplasia syndrome Report of a case

Hypodontia and nail dysplasia syndrome Report of a case Carol Anne Murdoch-Kinch, DDS,a Dale .A. Miles, DDS, IVS,~ and Chiu-Kwan Poon, BDS, MS,” Indianapolis, Ind., and Taichung City, Taiwan INDIANA

UNIVERSITY

SCHOOL OF DENTISTRY

AND TAICHUNG

VETERANS

GENERAL HOSPITAL

The ectodermal dysplasias are a clinically and genetically heterogeneous group of more than 120 syndromes involving ectodermally derived structures. The syndrome that is autosomal dominantly inherited and characterized by hypodontia, dysplastic nails, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome. Because of the minimal manifestations, this syndrome may be difficult to diagnose. Patients with hypodontia should be examined for dysplastic nails of the hands and feet and referred to medical and dental genetic specialists for verification of the diagnosis and counseling. We report a case of tooth-and-nail syndrome in a young woman. (ORAL SURG ORAL MED ORAL PATHOL 1993;75:403-6)

T

he ectodermal dysplasias are a diverse group of more than 120 syndromes involving ectodermally derived tissues.‘32 Principal dysplastic features involve ectodermal structures such as hair, nails, sweat glands, and teeth. In 1975 Witkop et a1.3published a detailed table of 37 conditions in which features of ectodermal dysplasia could be identified. They also described a new, unique syndrome affecting 10 members in three generations of a Scandinavian family. Genetic modes of transmission include autosomal dominant, autosomal recessive, and X-linked recessive. A simplified classification proposed by Witkop4 and reported by Redpath and Winter5 divided ectodermal dysplasia as follows: Type I: X-linked hypohidrotic with widespread manifestations Type II: Autosomal dominant with hypodontia and dysplastic nails but with normal hair and eyebrows (tooth-and-nail syndrome; Witkop’s syndrome) Type III: Ungual form that has both X-linked and autosomal dominant features, primarily a hair and nail defect in which the teeth are normal

The autosomal dominant type of ectodermal dysplasia, characterized by hypodontia and dysplastic nails but with normal hair and eyebrows, was first reported by Weech6 and later more fully described by Witkop et a1.2‘4and Giansanti et al.’ Hudson and Witkop* reported 29 casesin six families. This type of ectodermal dysplasia is known as the tooth-and-nail syndrome. Hair is generally normal in distribution and density but of unusually fine texture. In addition, the lips may be slightly everted. The primary dentition is essentially normal. Hypodontia and on rare occasionsanodontia of the permanent dentition is present, with seldom more than 20 teeth missing. Hypodontia most often involves the mandibular incisors and second molars and the maxillary canines. There is no hypohidrosis or deficiency of the nasal, lacrimal, pharyngeal, or salivary gland secretions. The toenails are usually small, very thin, and centrally hollow. In children they may appear concave or be congenitally missing. When present, nail growth is extremely slow with no gender predilection with regard to severity. This is consistent with significant variability in gene expression as previously described.J The following report describesa rare caseof toothand-nail syndrome in a white woman.

“Graduate

CASEREPORT In April 1990 a 22-year-old woman was seen for a complaint of multiple missing teeth in the Referral Clinic of the Department of Dental Diagnostic Sciences of Indiana University School of Dentistry. Because of the patient’s clini-

Student.

bAssociate Professor and Director, Graduate Program. CAttending Physician, Dental Department Taichung General Hospital, Taichung City, Taiwan. Copyright ( 1993 by Mosby-Year Book, Inc. 0030-4220/93/$1.00+.10

7/17/39389

Veterans

403

Fig.

1. Severe toenail koilonJchl,i

cal appearance. hereditary disease \\;I\ su~pcc~ed !I\ the IC‘ ferring clinician. The patient reported that since childhood weeating occurred onl! on the I’ace after exercise. Llnt11 several years ago (he patient had been acp;~r;~ted from he:( biologic father and two paternal half-hrothera. .\I Ihal [iniL. \he noted that her father had line hair, dr! skin. cscesG\L. dental spacing. and small toenails. Both brothers :11ao hari extremely dry skin. The patient had ;I hiqtx> CJI’;I “prcc~~~~of Ihc uterine cervix in 19Xx. \\hich 0;1* cerous lesion” treated by multiple cr~osurgicai proadurtx Othcrww ~CI medical histor! 1~3s unremarkable for ~xI\[ or prcbenl CJI diovascular. gastrointeslinal. infcctiou\. ncurologiC. or rc\pirator! diseases. Physical examlnalion re\ealcd .I v,~ll-developed ,tnti well-nourished young wman of~tvcrage height and weigh! She reported that her hearing and vision \+ere normal. I IIC facial profile, especialI! in the IOWCI- f’acr. \\:Is \ligh~l! AZ gular: ho\+e\er. no frontal txxing. dcpre\bed nasal bridge. pouting lips. or protruding cars were cv~dent. l‘he xalp hair. appeared line, and the hair of the eyehrou\ and cyzlazhe\4as normall\ distributed. She reported Ihat the xcrelion (11’ the lacrimal glands \\.I\ normal. A :gros\ dermatoloyic ;I‘,

Murdoch-Kinch,

Fig. 4. Intraoral

Miles, and Poan

405

radiographicappearanceof patient’steeth andjaws.

nasal bridge, dry skin, and sparse hair. Males are more severely alfected, but female involvement has also been reported.‘. ” In the hidrotic or ungual form of ectodermal dysplasia (type III in Witkop’s classification), the hair and nails are primarily affected. Patients may have palmar and plantar keratosis, sparsehair or no hair, and defective or missing nails,l. ‘3 lo which are inherited as an autosomal dominant trait. In ectodermal dysplasia type II the teeth and nails are affected and hair is normal. Freire-Maia and Pinheiro,’ in their recent classification of more than 120 ectodermal dysplasias, classify this syndrome as “odonto-onychodysplasia” according to its involvl?ment of the teeth and nails only. Two of 16 patients with ectodermal dysplasia described by Redpath and Winter’ had nail defects and hypodontia. Theise patients may have had tooth-and-nail syndrome. Giansanti et al.’ reported a case in a female with nail defects, mild hypodontia, cone-shaped teeth, and brittle scalp hair that broke easily according to the patient, and proposed the caseto be another example of tooth-and-nail syndrome, although Hudson and WitkopY suggestedthat further investigation may reveal a new type of ectodermal dysplasia. The chromosomal or genetic defect in hypodontianail dysplasia syndrome has not yet been determined, but a multifaceted approach to genemapping with the use of recombinant DNA technology should provide answers in the future.” Understanding of the developmental error or errors responsible for the clinical

manifestations is not complete. The presenceof thin and brittle nails suggeststhere may be keratinization abnormalities in cells of the nail matrix. Similar disruptions in complex epithelial-mesenchymal interactions in tooth development may be responsiblefor the hypodontia.*. I2 Further research is needed in this area. Thus ectodermal dysplasia of the tooth-and-nail type, although easily distinguishable from the more severe forms of ectodermal dysplasia such as hypohidrotic ectodermal dysplasia, may be more difficult to diagnose clinically because of the minimal manifestations. Patients with hypodontia, especially of the permanent incisors and second molars, should be examined for dysplastic nails of both the handsand feet. Genetic counseling of these persons is necessary to inform them of the eventual dental problems that their offspring might encounter. CONCLUSION A rare case of hypodontia-nail dysplasia (toothand-nail syndrome) is reported. The clinician should be aware that hypodontia and dysplastic nails may be the only manifestations of this type of ectodermal dysplasia. Patients with these changes should be examined by medical and dental genetic specialists for verification and counseling. We thank MS Julie R. Lettunt for her excellenr assistance in the preparationof this article.

REFERENCES I

I relrc-21Lti:t N. Plnheiro M. Lctodermal dysplasia,: some xc‘ollect~on\ ,rnd :i classification. Birth Del’ccts 19X8:24:3-14. 2. I.evin I.S Dental and oral abnormalities in selected cctodermaI d\spl,lriSl \\ndromes. Birth Defect5 198X:21:205-27. 1 Witkc;p (‘.I. Br&rrle~ LJ, Gentr) WC. llypoplastic enamel, ~~n!choi!~l\. .~nd Ii! pohidrosis inherited RS an autosomcll donIn,lnt trail: a rcvwb ol’ectodermal dysplasia syndromes. OI< \I Sl fKY OK\1 MI I) OK21 P\lllOl 1975:30:71-X6. 4. LVitkop C ,I Jr. (irnstic diseases of the oral cavil. In: rieckc I~\+. ai Or;11 p;ltholog!. Neu York. McGraw-Hill 1965.X I ?- 1

(I 7

\I etch ,\ 2 I Icrcditnr) iodcrm;il del’ec~ 1 ,\m J (Tianantl JS. I ong SM, 01’ ;IU~OWIII;I/ dominant OIpohidrotic cctodermal dysplasia. dent,tl Inanil’e\tationx On,\1 St ~(8 011.\I MI,II OI PM. Gene mapping in the ~ii~)tleri~:,~I li!spl:iri,~i Birth Derects 19X8:24:45-9. I?. Holbrook KI\. Structural ahnormalltre\ 01 thu cpidermail\ derived appcndnges in skin from patient\ Hith ecrodermal d>+ plasia. insight into developmental crrorq Birth Delcc’t\ 198X:24 15-&i 9

Dale A Miles. DDS, MS Department 01‘ Dental Diugno\tic Sclcnce\ Indiana IJniver\ll) School of’ Dentistr! 1 I2 I \\ Michigan St. Indianapolis. IN 36203