Case Report

Delayed tooth eruption in congenitalhypertrkhosis lanuginosaDeborah L. Franklin, PhD, MDent Sci, BDS, FDSRCS (Eng), MRCD (C) Graham J. Roberts, MDS, PhD, FDSRCS (Eng), BDS, MPhil

Hypertrichosis in childhood is found in a vari-ety of conditions and may be localized orgeneralized.' Localized hypertrichosis may be

related to trauma, nevi, or spina bifida occulta. Gen-eralized hypertrichosis can occur with a variety ofmetabolic, chromosomal, and congenital disorders;these include Gorlin syndrome, Cornelia de Lange syn-drome, Leprechaunism, the porphyrias and muco-polysaccharidoses, trisomy 18, gingival hyperplasiawith hypertrichosis, and the congenital hypertrichoses.Pre- or postnatal drug exposure with drugs such as glu-cocorticoids, cyclosporin, and maternal alcohol abusein pregnancy may also result in hypertrichosis. In thecongenital hypertrichoses, excessive hair growth is theprimary disorder. The terminology of these disordershas been confused in the past but they have been de-scribed as congenital hypertrichosis universalis,transient congenital hypertrichosis universalis, andcongenital hypertrichosis lanuginosa.1

The present case is one of congenital hypertrichosislanuginosa in which the body is covered with denselanugo (fetal) hair at birth, which persists and is con-stantly renewed throughout life. Congenitalhypertrichosis lanuginosa is very rare; a review of theliterature in 1969 found reports of only 32 cases.2 Theinheritance is believed to be autosomal dominant withvarying expressivity2"7 and there are several families inwhich the disorder has been described in more than onegeneration,3'5'6 with a four-generation pedigree in oneBurmese family.5 Others have reported excessive hairi-ness in previous generations,7 suggesting the idea ofvarying expressivity. The disorder is primarily an aes-thetic one; the lanugo hair is constantly renewedthroughout life, but in some cases does appear to di-minish with age.7 The growth of the hair is dense alongthe back, particularly at the base of the spine, and canblock the external nose and external auditory canals,causing apparent deafness. The only parts of the bodyfree from hair are the palms of the hands and soles ofthe feet. In the past, individuals with extremes of hy-pertrichosis of all types have been widely exhibited inside-shows and described in terms such as "dog-facedboy", "the nondescript", and "human werewolf'.5'8'9

Dental anomalies such as neonatal teeth, hypodontia,the presence of supernumerary teeth, and "defects" inthe enamel have been reported in association with hy-pertrichosis lanuginosa.3'5'7 The present case illustratesdelayed eruption of primary and permanent teeth re-sulting in unusual root morphology of primary molarteeth, and also enamel hypoplasia.

Case reportA male child was born of unrelated parents follow-

ing a normal pregnancy and delivery. He was the firstborn and has an unaffected younger brother. Themother had taken no medication or vitamin/mineralsupplements during the pregnancy. The child was cov-ered in dense blonde lanugo hair at birth which wasparticularly dense around the base of the spine andexternal auditory canals. The palms of the hands andsoles of the feet were free from hair growth. The scalp,eyebrow, and eyelash hair were slightly coarser anddarker than that on the rest of the body. At birth, theright cornea was noted to be cloudy as a result of glau-coma; this was treated with a trabeculotomy.10 Duringthe first year of life much of the hair fell out, but thaton the face and ears persisted; this is shaved regularly(Fig 1). There is no known maternal or paternal fam-

ily history of congenitalhypertrichosis lanugin-osa. However the parentsand younger brother are"quite hairy", and themother reports that shehas relatives who have alarge amount of headhair. Low intelligenceand growth retardationhave been reported pre-viously in congenitalhypertrichosis lanugin-osa.3 The child in ourcase appears to have nor-

Fig 1. Full face illustrating ™al ™nt*1 and Physical

congenital hypertrichosislanuginosa development.(the face is shaved regularly). At the age of 2- no

192 American Academy ofPediatric Dentistry Pediatric Dentistry - 20:3, 1998

Fig 2a. Mandibular teeth showingpitting and discoloration of the incisaledges.

Fig 2b. Maxillary teeth showingpitting and discoloration of the

incisal edges.

teeth had erupted; the gum pads were normal in ap-pearance but the maxillary pad was noted to berelatively large. By the age of 3-and-a-half the mandibu-lar primary central incisors (71, 81) had erupted (Fig.2a) and by 5 years the maxillary primary central inci-sors (51, 61) were present. The child is now 6 yearsold and the upper right primary lateral incisor (52) hasalso erupted (Fig 2b). The teeth are chalky white withpitting and brown discoloration of the incisal edges,particularly in the maxilla (Fig 2b); this suggests thepossibility of an enamel defect. No treatment has yetbeen carried out and none is planned in the near fu-ture. Although the child appears to have developednormally, both physically and mentally, he is quite shyand reluctant to cope with dental examinations.

The radiographs of the present case confirm thepresence of all primary teeth; the permanent incisors,canines, and first molars (Fig 3). The unerupted pri-mary molars are still completely covered in bone. Thefirst permanent molars, particularly on the right side,appear closer to eruption than any primary molars. Theroots of the mandibular primary molars are very closeto the lower border of the mandible and the mesial anddistal roots have become divergent and splayed (Fig 3).The maxillary primary molar roots are unclear on theradiograph. There is evidence that the maxillary sec-ond permanent molars are showing signs ofmineralization. Between the mandibular primary mo-lars there are triangular areas of altered radiodensity,some of which extend from the alveolar crest to thelower border of the mandible.

Fig 3. Panoral radiograph showing unerupted teeth and splaying ofdeciduous molar roots. Patient cooperation has not yet been sufficientfor intraoral radiographs and photographs.

DiscussionA variety of dental findings have been described in

relation to congenital hypertrichosis lanuginosa. Theseinclude delayed eruption of permanent teeth,hypodontia, neonatal teeth, microdontia, and the pres-ence of supernumerary teeth.3'5'7 As there have beenseveral reports of hypodontia associated with congeni-tal hypertrichosis lanuginosa, it has been suggested thatthere may be a hypodontia/congenital hypertrichosislanuginosa syndrome.5 It is possible that teeth werepresent in some of the reported cases but failed to eruptand could have been seen radiographically. Onecase of congenital hypertrichosis lanuginosa hasbeen described in which there were no apparentdental anomalies.8

The present case exhibits delayed eruption of bothdeciduous and permanent teeth. At the age of 6-and-a-half years only five deciduous teeth have erupted, andno permanent teeth. This is the stage of dental devel-opment expected in a child younger than 1 year of age.In the present case, most of the permanent and decidu-ous teeth are actually present. The teeth, particularlythe deciduous molars, have failed to undergo eruptivemovement within the alveolar bone. During theintraosseous stage of tooth eruption, bone resorptionoccurs over the crown of the tooth with bone forma-tion beneath the roots forming an eruption pathway.The dental follicle produces growth factors and en-zymes, which initiate much of this tissue turnover.11 Itis possible that the t r iangular areas of alteredradiodensity extending from the alveolar crest to thelower border of the mandible seen in the radiographof this case represent extensions of the dental follicle.This may be an attempt to form an eruption pathway,which the teeth have failed to follow. This has resultedin splaying of the tooth roots.

There is at present no evidence of the developingpremolars and lower second permanent molars. Calci-fication of the crowns of the premolars is usuallycompleted between the ages of 5 and 7 years and thesecond permanent molar crowns are often not calci-fied until the age of 8; it is therefore possible that theseteeth may yet develop. Delayed eruption of the per-manent teeth has previously been described in a caseof congenital hypertrichosis lanuginosa,2 and delayedtooth eruption occurs in children with other disorders

Pediatric Dentistry -20:3, 1998 American Academy of Pediatric Dentistry 193

such as Down syndrome, cleidocranial dysplasia, hy-popituitarism, hypothyroidism, and hereditary gingivalhyperplasia associated with hypertrichosis. In cleido-cranial dysplasia, the deciduous teeth usually eruptnormally. In the permanent dentition, the delayederuption is often related to the numerous supernumer-ary teeth which may be present. There is noradiographic evidence of developing supernumeraryteeth in the present case that may be preventing theeruption of some teeth, but cooperation has not yetbeen good enough for intraoral radiographs to be taken.

The enamel of the erupted teeth of the present caseappears to be hypoplastic. Enamel hypoplasia can oc-cur for a variety of reasons,12 including disordersaffecting the skin like epidermolysis bullosa.~3 Teethwith enamel hypoplasia and other enamel defects suchas amelogenesis imperfecta may often be slow to erupt,and may exhibit other eruptive anomalies such as fol-licular cysts and impactions.14’ 15

Several cases of hypertrichosis of the terminal hairassociated with gingival hyperplasia have been re-ported,4, 9, 16. 17 and it has been suggested the two arepart of the same disorder. Congenital hypertrichosislanuginosa does not appear to be associated with gin-gival hyperplasia. The relatively large maxillary gumpad noted in the present case prior to eruption of themaxillary central incisors is probably insignificant andexcess gingiva has been described in association withdelayed eruption)8 As teeth have erupted it has becomeevident that gingival hyperplasia is not really present.In several of the reports of hypertrichosis of the termi-nal hair associated with gingival hyperplasia, the gingivahas been excised and the teeth exposed)6’ 17 This typeof procedure has also been carried out in other cases ofdelayed tooth eruption such as cleidocranial dysplasia.19At present this is not planned for our patient,and a "watch and wait" strategy is being carried outuntil such time as the child becomes concerned abouthis dentition.

The present case was reported soon after the birthof the child, as it is the first in which glaucoma has beenreported in conjunction with congenital hypertricho-sis lanuginosa.~° The present report is the first in whichthe dental findings have been described. Glaucoma hasbeen associated with various skeletal and dental mal-formations and it may be that there is a relationshipbetween neural crest development and all these disor-ders.1° This may have resulted in the delayed tootheruption described in the present case and the variousother dental anomalies described by others.

Dr. Franklin is senior registrar, Paediatric Dentistry, EastmanDental Hospital and Great Ormond Street Hospital for Childrenand Dr. Roberts is joint professor of Paediatric Dentistry, East-man Dental Institute and Great Ormond Street Hospital forChildren, London.

References

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2. Felgenhauer WR: Hypertrichosis lanuginosa universalis. JGenet Hum 17:1-44, 1969.

3. Freire-Maia N, Felizali J, de Figueiredo AC, Opitz JM,Parreira M, Maia NA: Hypertrichosis lanuginosa in a motherand son. Clin Genet 10:303-306, 1976.

4. Lee IJ, Im SB, Kim DK: Hypertrichosis universaliscongenita: a separate entity, or the same disease as gingivalfibromatosis? Pediatr Dermatol 10:263-66, 1993.

5. Bondeson J, Miles AE: The hairy family of Burma: a fourgeneration pedigree of congenital hypertrichosis lanuginosa.J R Soc Med 89:403-408, 1996.

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11. Marks SC Jr: The basic and applied biology of tooth erup-tion. Connect Tissue Res 32:149-57, 1995.

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13. Scully C: Oral manifestations of disease. Dent Update 7:53-60, 1980.

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16. Homing GM, Fisher JG, Barker BF, Killoy WJ, Lowe JW:Gingival fibromatosis with hypertrichosis. A case report. JPeriodontol 56:344-47, 1985.

17. Winter GB, Simpkiss MJ: Hypertrichosis with hereditarygingival hyperplasia. Arch Dis Child 49:394-99, 1974.

18. Evian CI, Cutler SA, Rosenberg ES, Shah RK: Altered pas-sive eruption: the undiagnosed entity. J Am Dent Assoc124:107-110, 1993.

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194 American Academy of Pediatric Dentistry Pediatric Dentistry - 20.’3, 1998